It is hard to believe the first quarter of 2025 is in the history books. In the space of hypertrophic cardiomyopathy and thick heart muscle disorders, the distance between the promise and the delivery of a reality freed from burden of disease is closer than it has ever been, not only in the United States but throughout the world. Unfortunately, we are navigating through some challenging health policy times, which will impact a large percentage of those with the diseases we seek to serve. While we navigate these challenging waters together, we remain committed to ensuring safe, accessible, affordable, healthcare while ensuring the rights of those with disabilities are maintained.
Last month, I attended two large conferences - one held in Stockholm, Sweden the other Chicago, Illinois. The research communities worldwide are holding their breath, waiting to see how we will move forward, even as we continue to develop new therapies, treatments and, even potentially, cures. It has never been more important to keep research moving, as we are so close to so many amazing improvements in our ability to care for those with thick heart muscle disorders, including HCM in all its forms, Amyloidosis, Fabry’s disease, Danon disease, and RASopathies.
There was amazing science presented at the American College of Cardiology, where we warmly welcomed new president, Dr Christopher Kramer, the original director of the hypertrophic cardiomyopathy center at University of Virginia. We look forward to his leadership and wish him well in his challenging tasks ahead.
Later this month we will be in Orlando Florida - please register and join us for this wonderful Bighearted warrior tour in person with our friends at AdventHealth and the incomparable Dr. Marcos Hazday. I even understand that there's some carpooling being organized from the Tampa area. If you're interested, reach out to the office and we will connect you.
Maybe, the most impactful thing that will happen in the month of April is that we will conduct our second visit to Capitol Hill. Our lead topic this year is something you have heard us talk about at many prior meetings of the HCMA and podcasts; the generic drug quality issue. We are proud to be partnering with David Light, Co-founder and President of Valisure, and retired Colonel Vic Suarez, to ask House and Senate members to support the inspection of all generic drugs purchased by the Department of Defense and the Veterans Administration and make results of these inspections open for public use. Secondly, we are seeking rational oversight of health insurance companies’ abuse of prior authorizations and step therapy requirements. These issues cost an estimated 1.3 billion dollars a year and provide nothing to keep a patient safer or a physician's office running more efficiently.
Common sense tells us to not waste money where there is no return. Additionally, prior authorizations and step therapies can keep patients sicker longer, ultimately costing the healthcare system more money.
Our briefing will educate Representatives to act in an informed manner when moving policies that impact us all. You can watch us live at our briefing Wednesday April 9th 5:00 to 7:00 p.m. on Vimeo:
https://vimeo.com/event/5043266
If you wish to get involved or more informed on any of the issues above, I encourage you to visit the website,
4hcm.org
, or reach out to the office and the staff will be happy to assist you.
On the day before I head out to Washington DC, I will leave you with this one thought - we have come a really long way in our understanding of HCM over the past 60 years. We have increased the lifespan of those with HCM, through collaborative research and implementation of best practices in an organized fashion throughout this country. We have worked so hard to end suffering for so many, and we are succeeding in our shared goal to outsmart hypertrophic cardiomyopathy and other thick heart muscle disorders.
It is important to continue the research into all aspects of these diseases, including the biological, the clinical, burden of disease measurements. System improvements, positive impact of timely diagnosis and treatment, and the value to society of all of these big hearts being here, keeping their families whole.
So we're off to DC to try to educate others about what it really means to live in our ecosystem.
by Victoria-Theresa Wyatt and Gordon Fox
First in a series
What is Shared Decision-Making?
Shared decision-making is a term used a lot in healthcare settings and medical education these days. It represents the latest understanding of the physician's and patient’s roles and responsibilities in helping patients make decisions about their health. Shared decision-making is intended to combine patient preferences, the physician's clinical expertise and the latest medical research to make more informed healthcare decisions.
What typically goes into making a decision?
Identification
- Identifying the decision you would like to make
(For example: Should I get pregnant as an HCM patient?)
. How does this decision affect the many other potential issues I might have as an HCM patient (
Would my HCM make my pregnancy risky? What is the chance my child will inherit my HCM?
)?
Analysis
- Bring together the information you have available
(such as risk factors and assessment, quality of life concerns, health history, doctor's recommendations, etc.)
. How do I get more and more accurate information to help make this decision?
Evaluation
- Using the information above to make your decision (in conjunction with your medical team and loved ones, like in treatment plans).
What does this look like in real life? Imagine you are planning a vacation. HCM might cause you to make additional decisions or consider additional factors when choosing where to go or what to do. If your HCM is stable and you are not very symptomatic, the proximity of quality cardiac care may not be at the front of your mind when choosing your vacation destination. If you are an HCM patient in advanced heart failure, you may want to vacation in areas where you can be certain you can obtain care. You might need to consider whether your trip requires strenuous activity or you can opt out of those activities. Perhaps your doctor has told you to avoid certain activities that might put you or others at risk if you have an issue and you want to take that into consideration when planning your itinerary.
What this series will do.
In this series of blog posts, we hope to break down the decision-making process with HCM, understanding risk, how to interpret it as the doctors may explain it, and how it applies to you, as well as discuss some common areas where HCM may affect your decision-making process. Using the information provided in this series, you will feel better equipped to apply some of the information you receive to make the right decisions for you!
Suppose you have been diagnosed with HCM through an EKG, echocardiogram, and a visit with a cardiologist. Most experts recommend that you have genetic testing to know for sure why your heart is too thick.
Why does it matter?
Some hearts look like HCM but have a genetic mutation for one of the HCM spectrum disorders - Amyloidosis, Fabrys, Danon, Sarcoidosis, etc. These disorders are often managed differently from HCM alone, so you need to know if you have one.
HCM is mainly caused by gene mutations (sometimes called variants or markers). Not all HCM is linked to a specific variant, and we believe more mutations will be identified in the future.
In recent studies at large HCM Centers, about 40% of those tested had a gene mutation known to cause HCM. As of 2023, 60% will not have a mutation currently identified as causing HCM. We still believe that HCM is a genetic disorder that families can pass down - even if the mutation is currently unknown.
Your genetic test can show one of three results:
Positive / Mutation identified (you have a known variant).
Negative / No mutation identified (you do not have a known variant).
VUS (a variant of uncertain significance whose meaning is still evolving). It's a bit confusing, but as researchers learn more, a VUS can be reclassified as a positive or negative.
If your genetic test is positive, this information can be used to screen family members to see if they have the same variant.
Your children, parents, and siblings can be tested for your variant, and if they don't have it, they can skip clinical tests (echocardiogram, etc.) unless they develop heart symptoms.
A negative genetic test DOES NOT take away your HCM diagnosis
,
and it DOES NOT mean that your family can safely avoid clinical screening for HCM
(echocardiogram, EKG, and an exam by a cardiologist). Researchers are still discovering variants that may cause HCM and are starting to look into combinations of two or more genetic variants (
polygenetic
) that could cause HCM. If you do not have a known variant, your close relatives must be screened regularly using clinical tests to see if they develop HCM.
Once you've gone through our free
Intake
process, we will invite you to join our
Nest
education program. For a great explanation of genetic testing in HCM, sign up for the Nest portal when you're invited.
Knowing your mutation may allow gene therapy to treat your HCM in the future. Clinical gene therapy trials for those with a mutation on MYBPC3 have started! We expect other common HCM variants (such as MYH7, etc.) to be included in future clinical trials.
A last thought: many people who test positive for one of the known variants say, "I have the gene for HCM," but this is misleading. They have a mutation on one of many genes that may contribute to HCM.
Some arrhythmias are harmless, while others are serious and need treatment.
by Sabrina Cuddy
An
arrhythmia
is a problem with the rate or rhythm of your heartbeat. It means that your heart beats too quickly, too slowly, or with an irregular pattern. This can be scary, but many arrhythmias are harmless, and others are very treatable!
Some common arrhythmias in HCM are atrial flutter/fibrillation, ventricular tachycardia/fibrillation, left or right bundle branch block, PVC, PAC, and others. Some arrhythmias are harmless, while others are serious and need treatment.
Which treatment your arrhythmia needs depends on where and what the problem is. Your cardiologist may send you to an electrophysiologist to help diagnose and treat arrhythmia.
Some arrhythmias can be controlled with medications, while others require ablation procedures. AFIB might be treated with cardioversion. Some arrhythmias require a pacemaker, and the most dangerous arrhythmias are best treated with an internal cardioverter-defibrillator (ICD).
Implantable devices used to treat arrhythmias
A
transvenous ICD
is a small battery-powered electronic device connected to the heart with wires called "leads." ICDs can shock your heart out of dangerous arrhythmias, especially ventricular tachycardia or fibrillation. Some ICDs can act as pacemakers and treat an arrhythmia before it becomes dangerous, thus avoiding a shock.
A
subcutaneous ICD
(S-ICD) is a newer type of ICD implanted under the skin on the side of the chest below the armpit. It's designed to prevent sudden cardiac arrest by delivering a shock if it detects a dangerous arrhythmia. It can't act as a pacemaker.
A
pacemaker
prompts the heart to beat at a regular rate. You may need a pacemaker if you have
bradycardia
- a slow heart rate. You might need a pacemaker if you have a heart block - the ventricle's electrical signal is partly or totally blocked. A pacemaker can't shock you out of a dangerous rhythm.
Sometimes, ablation can be done for other types of arrhythmias but may not be as effective as those for AFIB. If you have myectomy surgery and have AFIB, sometimes a procedure called
MAZE
is done during surgery to treat the arrhythmia.
The new drug Camzyos (mavacamten) has been nothing less than life changing for some patients who have HCM with obstruction. But like any drug, not all patients can take it, and not all those who take it benefit enough to stay with it. It can also add complication to a patient's life. Insurance coverage is often unpredictable. The FDA-mandated
REMS
(Risk Evaluation and Management System) and warnings may seem daunting to some.
REMS is a good thing
The REMS program has some important benefits. The idea is to reduce the risk of heart failure, especially if it requires hospitalization. For instance, if a patient's left ventricular ejection fraction(LVEF) drops below 50%, REMS mandates that the dosage of Camzyos be interrupted.
REMS data
REMS produces a lot of data, and that can help in assessing Camzyos. A group of scientists led by Matthew Martinez (Morristown Medical Center) and Milind Desai (Cleveland Clinic) recently analyzed the data from nearly 6300 patients who received at least one dose of Camzyos (Martinez et al. 2025). There were 5573 patients with at least one report on their status (including the data from their echocardiogram).
Reduced obstruction
Camzyos provided significant reduction of obstruction. Initially all patients were obstructed (that is, they had gradients of at least 30mmHg after valsalva maneuvers). After 3 months on Camzyos, about 57% were no longer obstructed. After 6 months, about 70% had no obstruction.
Heart failure found early
But, how often did patients have problems indicating heart failure? LVEF at 50% or lower was recorded in 256 patients, 4.6% of the total. Symptomatic heart failure that required hospitalization occurred 71 (1.3%) times, and both occurred in 17 (0.3%) of the patients. When the analysis was restricted to patients who had been on Camzyos for at least a year, the numbers in these categories were roughly similar.
Conclusions
We can conclude several things. (1) Camzyos eliminates (or greatly reduces) obstruction in a majority, but not all, patients; (2) the risk of heart failure is relatively low; and (3) the REMS program is effective at protecting patients from severe heart failure and its consequences.
Getting vaccinated (or not) for any disease is a decision that each of us has to make. Ideally, it should be based on understanding the potential risks and benefits of the vaccine - and the risks and benefits of not getting vaccinated.
What is a vaccine?
A vaccine is something that stimulates the immune system to respond to disease-causing agents like viruses or bacteria. One common misunderstanding is that "immune response" means that you cannot become infected. This isn't correct; an immune response means that your system can better fight off the infectious agent. Some vaccines can produce an immune response that makes the chance of getting the disease almost zero. Others may produce an immune response that helps fight off the disease but does not prevent it.
The COVID-19 vaccine
With current COVID-19 vaccines, sometimes people get the disease after being vaccinated. This does not mean the vaccine is ineffective. The course of the disease is typically much shorter and less dangerous if you're vaccinated than if you're not. And it also happens that people get infected by a viral strain that isn't covered by the vaccines they've received. In any case, we know this much: many fewer get the disease if they have been vaccinated. Among those who do get the disease, many fewer have severe consequences like hospitalization or death.
Increased risk among HCM patients
People with HCM are not at any increased risk for becoming infected. But we are at much greater risk of severe consequences like lung or heart issues if we do develop COVID-19. That provides a strong argument for vaccination, especially because the vaccines are quite good at preventing hospitalization and death.
Can vaccines have bad consequences?
Of course they can - like any medical treatment! Anything that causes an immune response may make you feel sick. After all, many symptoms are mainly caused by our immune responses and not directly by the infectious agent. Fever is an example; allergic reactions are also possible, though not extremely common.
Hearts, COVID-19, and vaccines
More particularly, can the COVID-19 vaccines lead to heart problems like myocarditis or pericarditis? Yes, but not often! There is an increased rate of myocarditis following vaccination, mostly among young men. On average, about 1 to 10 in 100,000 people in the US are diagnosed with myocarditis every year. The vaccines appear to increase risk, but not nearly as much as COVID-19 itself does!
A large American study
by Block et al. (2022) found that the risk of heart complications in men age 18-29 was 7-8 times greater among those infected with the COVID virus than among those vaccinated. Among males age 12-17 the risk was 2-6 times greater among those infected than among those vaccinated. It's not clear if the risk increased at all among females. So: yes, the vaccines can increase your risk or heart complications, as compared with someone who is not infected. But infection increases your risk even more.
Conclusion: docs recommend vaccination
For HCM patients, the COVID vaccine offers significant benefits with small risks. Not getting vaccinated offers no substantial benefits and fairly large risks. This is the reason HCM specialists unanimously and strongly recommend vaccination.
Literature cited
Block JP, Boehmer TK, Forrest CB, et al. Cardiac Complications After SARS-CoV-2 Infection and mRNA COVID-19 Vaccination — PCORnet, United States, January 2021–January 2022. MMWR Morb Mortal Wkly Rep 2022;71:517-523. DOI:
http://dx.doi.org/10.15585/mmwr.mm7114e1
You must advocate for yourself to get the best care for your HCM. The first step is to have a plan that includes the tests you need and how often to see your cardiologist. To make planning easier, the HCMA offers Navigation Calls. We encourage everyone with HCM to complete our
Intake and Navigation Call
at least once to help you get on track with your care. This is a free service, although paid members may take advantage of extra calls if needed during the year.
We encourage you to see an HCM expert at an
HCMA Recognized Center of Excellence (COE)
. We are growing this program to give you more options. For those outside the US, we can often help you find an HCM expert, although we have yet to cover every country.
Is cost limiting your ability to fully take advantage of HCMA services? We offer scholarship memberships. You can apply alone or with your application to the Lori Fund, which grants up to $600 per year to cover the cost of traveling to a COE.
For stable HCM patients, here are some general guidelines for regular
testing
:
If your symptoms change, you should contact your cardiology team to discuss whether a medication change or other treatment would help you stay stable. Be flexible in your plan to handle changes in your situation. Remember, each patient is different – some can safely go 2-3 years between visits, while others may need to see their team every six months or less.
Gratitude has benefits for both mental and physical health as well as our relationships with those around us. When we’re thankful for anything positive in our lives, it leads to a shift in mindset that helps us feel better and take action to stay as healthy as possible. What can you think of that’s been good for you this month? What about this year? Who are the people in your life you appreciate? What in your life makes you feel grateful?
Being grateful can help us manage stress. If we have recently felt grateful, it can even help keep blood pressure from rising in response to stress.
Gratitude can help improve mood and stave off depression. Robert Emmons is a researcher who has studied gratitude and well-being. His research shows that happy people are more likely to take steps to stay healthy, such as exercising, eating right, and seeing their doctor or dentist regularly. People who write a few things they’re grateful for in a journal every evening sleep better, and we all know how much better we feel when we have a good night’s rest!
At the HCMA, we talk a lot about resilience. Gratitude helps you be more resilient when something bad happens to you and can give you some insulation against all the things happening in the world. Instead of focusing on what’s wrong, someone who practices gratitude can see what’s going right.
A study in Massachusetts of those with acute coronary syndrome found that patients had more improvement in health-related quality of life as well as less depression and anxiety when they showed gratitude and optimism during recovery. Now, this isn’t HCM, which we know is a chronic condition, but it also applies to us. (
Millstein, Celano, Beale, et al., 2016
)
People who practice gratitude regularly are more likely to be socially thoughtful and empathetic. They are more sensitive towards other people. They also feel less competitive and often have higher self-esteem. It’s one of the easiest ways to improve your satisfaction with your life. Remember, if you’re happy, you’re more fun to be around, which can benefit your social and professional life.
Ways to practice gratitude
★Try keeping a journal of times you feel grateful each day.
★If someone gives you a gift this holiday season, be sure to express your thanks to them because this can strengthen your relationship, make them feel good, and make you feel good! If you didn’t want that ugly sweater, that’s ok – regift it next year (or donate it next week), but allowing yourself to feel grateful that someone cared to give you a gift is the most important thing because of the mental and emotional boost it provides.
★Thank someone who served you in some way. Genuinely thanking them can make up for past customers who were rude and put a smile on both your faces.
At the HCMA, November is when we’re thinking about weight management. We all know that winter months and holiday foods can lead to potential weight gain, and it happens to the best of us. It’s easy to gain weight with all the less healthy options in front of us – face it, we all love yummy treats! Those of us with HCM do better if we stay as close to our ideal weight as possible, so having an eating strategy over the holidays can help.
Here are some tips to think about:
Some people with HCM report that they don’t feel well or have worse symptoms after eating meals, particularly large ones or those with their “trigger foods” – researchers haven’t formally studied this, so pay attention to signs that your body reacts badly to carbs, large meals, or alcohol. Those with atrial fibrillation may find that alcohol, chocolate, cheese, and other foods may trigger them into an episode of afib.
Your symptoms are a good guide! You may feel better eating smaller amounts of food at each meal.
If you’re like most people, telling yourself you can’t have a particular food can frustrate you. That’s why having a plan is essential. It may stop you from making poor choices that will hinder your enjoyment of the holiday season. Your plan can include a favorite treat or two. Creating a plan isn’t always a guarantee for success, but not having a plan may lead to feeling poorly and having to bow out of social activities – and that’s no fun.
Another way to avoid gaining holiday pounds is to get some exercise. Make it a family tradition to go for a walk between dinner and dessert! Remember that those with HCM can generally exercise at a level based on THEIR heart. If you still need to discuss an exercise plan with your medical team, please do so! Leading a sedentary lifestyle can add other health problems, which can add to complications of your HCM; you don’t need that. Finally, make sure you stay hydrated, set a plan, and have a wonderful holiday season!
Treating the whole person is essential because your mind, emotional state, and physical symptoms interact. One example is that you can increase an arrhythmia by becoming anxious when it happens. It’s natural to be anxious when your heart does something unusual, but through slow breathing, relaxation, and other coping techniques, you can help yourself feel better. You can balance your emotional state by learning when you must pay attention to your symptoms and when you can safely ignore them. The
HCMA
and your medical team can help you learn how your body works with HCM.
If you’re struggling with the emotional aspects of HCM, we want to help! Here are some of our resources:
We offer
Emotional Support Discussion Groups
via Zoom. These sessions are a great place to learn coping skills, talk about your feelings, and meet your peers so you know you aren’t alone! You can find groups on our calendar for many topics in HCM that can help you feel better.
From our Big Hearted Warriors Tour, the 3/10/22 webinar with
Ascension St. Thomas Heart
, there is a segment by Dr. Ronald Salomon titled “Coping with HCM – Building Resilience.” Dr. Salomon is a psychiatrist working with the HCM Center of Excellence, which gives him a unique understanding of those living with HCM. This talk starts at 1 hour, 26 minutes into the video.
If you aren’t already in our
Facebook private group
, consider joining! Simply request to join the group and answer all 4 questions. Only those with HCM or close family are allowed to join, so you can hear from others living with HCM and get support from them.
If you need more emotional health care, don’t be embarrassed to talk to a therapist. It isn’t a weakness that you need a specialist for your heart, and it isn’t weak to find a specialist for your mind! Ask your cardiac care team if they can recommend a mental health therapist specializing in HCM or chronic illness. Your health insurance may have lists of therapists in your area as well. It might take trying several therapists to find one that clicks with you – that will make a difference in how much they can help you!
If you have been experiencing symptoms of obstruction, such as shortness of breath, exercise intolerance, light-headedness, or fainting, despite using medications, it might be time to consider septal reduction. The most appropriate septal reduction therapy for each patient depends on several factors, which you can discuss with your HCM team. If you need assistance understanding these options or guidance on communicating with your doctor, we are here to help. Please do not hesitate to reach out to the
HCMA
for support.
Camzyos
is the first FDA-approved medication for alleviating symptoms of obstruction in HCM. It’s worth a try for some individuals before considering invasive procedures. It may serve as a long-term solution for others, helping them avoid invasive procedures. However, since it’s relatively new, we are still learning about its full potential. Other medicines for this purpose are also currently in clinical trials, showing continuous progress in the field.
A septal
myectomy
is an open-heart surgery that effectively treats the obstruction to blood flow caused by the thickening of the heart muscle or issues with the mitral valve, papillary muscles, or chordae. Patients who undergo myectomy often report rapid relief of their symptoms. For individuals with atrial fibrillation (AFIB), a
MAZE
procedure may be performed at the same time. Because open heart surgery allows all of these procedures to be performed at one time, and because of the relief of symptoms, the myectomy is called “the gold standard” of septal reduction. The safest place to have a myectomy is a high-volume
Center of Excellence
for HCM, ensuring the best care and outcomes.
For those with the appropriate anatomy, an alternative procedure called
alcohol septal ablation
(ASA) is available for septal reduction. This less invasive method involves threading a thin, flexible catheter through a blood vessel in your groin to the artery that carries blood to your septum, where alcohol is inserted. Myectomy has a stronger track record of both safety and success than ASA. ASA might be recommended for individuals deemed at poor risk for surgery due to age or other medical conditions. However, it’s important to remember that ASA cannot be performed on every patient.
In conclusion, both Camzyos and septal reduction procedures offer hope and potential relief for individuals with HCM. The ongoing progress in treatments and options is truly inspiring, and we are committed to supporting you every step of the way. Please feel free to contact the HCMA for any assistance you may need.
Real world experience shows that the Viz HCM algorithm can be utilized with high diagnostic power, particularly for certain phenotypes (obstructive and apical) and races.
Algorithm validation study included 1,463 patients with left ventricular hypertrophy referred to the HCM center between 2018-2022 in a blinded fashion. Of these, 531 had a confirmed HCM diagnosis with mean age of 54.6 ±18 years, of which 62% were female, 81.7% caucasian, and 7.5% black, and the sensitivity and specificity were 68% and 89%, respectively. In subgroup analyses based on race, the model performed well in the black race (sensitivity, 72.5%), compared to sensitivity 66.8% in the Caucasian race. In patients with obstructive HCM (oHCM) without septal reduction therapies (n=154), the sensitivity of detecting HCM was 70.7%, while the oHCM with a history of septal reductive therapy group (n=121) had a sensitivity of 80.2%. The model performed particularly well in patients with the apical HCM phenotype. Meet the Viz team at the HCM Summit 8
Innovation has come to HCM through new therapeutic options under investigation. Several trials are open, and several more are planned for later this year or early 2025.
So, what is a Clinical Trial?
A Clinical trial is a research study that tests a medicine, surgical, or behavioral treatment to see if it works. With the data from these trials, researchers determine if a new treatment is safe and effective in people. Research and its results help set the foundation for new research. When a medication is proven safe and effective for a group of patients, it may be considered for study in another population. By volunteering for a trial, we learn more about HCM and how we can live better with it, and maybe someday eradicate it all together.
Many scientific advances come from passionate patients and people like you participating in trials like the ones we have coming up.
How do I learn more about clinical trial opportunities?
Other types of engagements are available.
Sponsor-initiated Market Research Engagement:
The HCMA has several opportunities annually for unique engagements to share the patient and family member’s lived experience to help improve outreach and marketing efforts. Sometimes, these engagements are disease awareness-focused and other times, they may provide “branded” marketing feedback on an approved class of therapeutics.
So, what is a Sponsor-Initiated Market Research Engagement?
The sponsor-initiated marketing research engagement aims to gather and deeply understand information regarding HCM, its patients, caregivers, and behaviors. They are often interview-style (question-and-answer) phone conversations. These engagements tend to be smaller in number with a quick turnaround. For example, we may have 20 positions and must complete the activity in 4 weeks. Other times, the information may be collected in a survey or a focus group meeting. Most engagements will compensate you for your time. These opportunities typically include payment for service. To ensure we know you are interested in this type of engagement visit;
https://www.surveymonkey.com/r/5YPBF7B
Advisory board recruitment
So what is an Advisory board and what are their responsibilities?
An advisory board has several key responsibilities contributing to an organization’s success. Their primary role is to provide strategic advice and guidance to the management team. They use their professional or personal expertise and/or industry knowledge to help the organization make informed decisions and develop effective strategies.
The HCMA is proud to recognize 51 Centers of Excellence (COE), where patients can be confident they will be cared for by knowledgeable, skilled HCM experts. However, the distance and financial resources needed to reach a COE can be a burden for families. That’s why the HCMA started the Lori Fund in 2023. The Fund covers up to $600 in transportation, meals, and hotels for HCM patients traveling to a COE.
Sarah, a recipient of a Lori Fund travel grant, expressed the relief provided by the program,
“I can’t thank each and every one of you enough for the help along the way! Just having that extra peace of mind helped tremendously.”
Coy, an HCM patient, says he earmarked his donation to the Lori Fund because
“I am fortunate to live in close proximity to excellent HCM care. I am also fortunate to have personal resources that some with HCM may not have. I hope that our contribution will allow patients with fewer resources to be able to get the same level of care that I have access to.”
Another donor adds,
“I understand how difficult it can be financially to get to the right doctor, the right Center of Excellence for properly diagnosing and getting the right therapy. Along with education about the disease, getting someone to the right doctor is the most important thing we can do to support patients.”
Donating to the Lori Fund, you help ensure all HCM patients can access the care they need. Please use this
link donate or apply for travel funds
. Together, we can provide hope and support to HCM patients in need.
We understand that having a new diagnosis or changes in your condition can be daunting, but please know you’re not alone. The HCMA is here to support you every step of the way! In addition to the helpful info in this newsletter and on our website, we encourage you to contact us for an Intake and Navigation Call or a short Update Call if you’ve done Intake before. To get started, sign up at
https://4hcm.org/education-and-support/
or by calling +1 973-983-7429. Those outside the US can request a Zoom call to save on long-distance call costs.
I have HCM; now what?
First, take a deep breath. With proper care, people with HCM can expect to live as long as anyone else. It’s important to seek care at a high-volume center – a
Center of Excellence
. The American College of Cardiologists and American Heart Association guidelines for HCM 2024 agree with the HCMA about finding the best care at high-volume centers.
HCM is characterized by thickening of the heart muscle. Even with minimal thickening, we can have symptoms due to heart muscle stiffness and other factors caused by myocardial disarray, which means the heart muscle cells aren’t lined up normally. For more information, follow this link:
https://4hcm.org/newly-diagnosed
.
You can find great support in our
Discussion Groups
and on Facebook. It’s important to remember that individuals seeking support on the
Facebook group
often have more severe problems related to HCM. You can gain valuable insights from the group if you have a new diagnosis. Remember that your HCM experience may not be as severe as some of the accounts you read online. Most people have a few symptoms that medications can easily control. The group is a private space where you can find exceptional peer support.
You may develop new symptoms as time passes – but please don’t panic!
While HCM symptoms can remain stable throughout a patient’s lifetime, many individuals experience changes. Some may develop an arrhythmia, while others may have an increase in obstruction, leading to new or more intense symptoms. For these reasons, it’s vital to be followed regularly by your HCM specialist. You might need a change of medications or other treatment to improve your quality of life. The HCMA can help you understand your latest test results, organize your thoughts so you know what to ask your doctor, or help you find a new team to manage your care. We are here for you, so don’t hesitate to
contact us
!
In 2004, the HCMA launched the “HCMA Recognized Centers of Excellence” program. This program plays a pivotal role in ensuring that the services and procedures offered at recognized COEs align with the latest best practices for managing patients with HCM. These centers use a team-based approach to care, involving HCM specialist cardiologists, genetic counselors, imaging specialists, and more. A COE has state-of-the-art facilities, scanning protocols, and well-trained technicians.
Our hard work has paid off! The American Heart Association and the American College of Cardiologists have embraced the HCMA’s care model in their best practice guidelines for HCM, 2020/2024.
Why consider seeking care at a COE?
Because it matters! In the USA, most community cardiologists typically encounter around 5-10 cases of HCM in their practice. HCM is an incredibly diverse disease. These cardiologists may not be fully familiar with the intricate variations of HCM anatomy, such as the varying degrees and locations of thickening in the heart, which can impact heart function. A COE program may have experience with hundreds or even thousands of HCM cases, making them much more likely to understand your specific presentation of HCM. COEs are often located within large medical centers with top-quality, up-to-date equipment.
If you need invasive treatment for obstruction, such as myectomy surgery or alcohol septal ablation, it’s crucial to seek care at a high-volume center. Even at a COE, it’s vital to ask about the frequency of these procedures performed by your potential surgeon. The statistics overwhelmingly indicate that surgeons performing a higher volume of these specialized procedures are associated with significantly lower rates of complications. So, to make sure your surgery goes as smoothly as possible, we highly recommend consulting with a high-volume COE (which can be arranged via telemedicine in some instances) before consenting to a procedure.
For a deeper understanding of the contrast between myectomy in a high-volume center and lower-volume hospitals, we encourage you to explore
“Septal Reduction Therapy for Obstructive Hypertrophic Cardiomyopathy: Volume Still Matters for Septal Myectomy” in the Journal of the American Heart Association, Volume 12, Number 10, published on 15 May 2023
.
Seeking COE care?
Discover a list of recognized centers by visiting our website at
https://4hcm.org/center-of-excellence/
. Be sure to use the phone number on our website to reach the COE team directly. We want to make sure you see the HCM experts and not just any cardiologists at a large medical center! While our recognition currently extends to COEs in the United States, we are here to assist if you are looking for recommendations in other countries. Simply reach out to us for more information. We’re committed to expanding and evaluating new programs for COE status. We want to ensure that you can access COE care near your home.
Knowing that access to care can be challenging, we offer need-based travel grants to help individuals receive the best care for HCM. Contact us at +1 973-983-7429 and inquire about the
Lori Fund
, or apply directly on our website. The Lori Fund reimburses you for eligible gas, airfare, hotel accommodations, and food expenses, offering up to $600 annually to support your journey to a Center of Excellence.
We’ve also teamed up with Angel Flight East to facilitate patients’ travel to a COE for care. Even if you are not in the Eastern US, their network can help connect you with another regional Angel Flight partner. Find out more at
https://angelflighteast.org/
or call us, and we will gladly assist you in connecting with a suitable flight.
We are excited about helping you access exceptional COE care for HCM. Please don’t hesitate to contact us for any support, guidance, or information you may need on your journey toward receiving the best possible care.
There needs to be more clarity about exercise for HCM patients. Some doctors say, “don’t do anything physical,” and others say, “do whatever you want.” We can likely agree on one thing – they’re both wrong, and the best advice is somewhere in the middle.
Experts agree that exercise is healthy for people with HCM. Depending on symptoms, most people with HCM can safely do light exercise like walking.
Those with HCM who have no symptoms
may
be able to exercise without restrictions.
Most people with
symptomatic
HCM aren’t advised to do heavy exercise. It’s best to avoid intense activity that involves bursts of sprinting, heavy weightlifting, or contact sports like football.
Fast Facts About Exercising When You Have HCM:
An HCM specialist and team created a helpful approach to fitness at the Peter Munk Cardiac Centre in Toronto, Canada. This program has three fitness levels. Their website shows you how to maintain heart health through videos, medical information, and a proven exercise program.
https://hearthealthbydesign.com/
.
Lisa Salberg, CEO and Founder, and I will host two Meet and Greets during our travel on the West Coast in July!
La Jolla, CA, “Meet and Greet” on Thursday, July 18th, at Olive & Basil from 6:00 – 8:00 PM PT. Space is limited, so we ask all to register by July 16th for proper headcount and to ensure enough space is reserved. Venue details: Olive & Basil, 8008 Girard Ave #220, La Jolla, CA 92037. For additional information and to register for the La Jolla Meet and Greet, click here:
https://4hcm.org/inspire_events/la-jolla-meet-greet/
Seattle, WA “Meet and Greet” on Tuesday, July 23rd, at Ivar’s Salmon House from 6:30 – 8:30 PM PT. Space is limited, so we ask all to register by July 21st for proper headcount and ensure enough space is reserved. Venue information: Ivar’s Salmon House, 401 Northeast Northlake Way, Seattle, WA 98105. For more details and to register for the Seattle Meet and Greet, click here:
https://4hcm.org/inspire_events/seattle-meet-greet/
Our Meet and Greets require registration, although there is no registration charge. A light dinner menu and non-alcoholic beverages will be served at each event.
The HCMA has many volunteer opportunities to help create the world we want to see for HCM patients and their families. To learn more about HCMA volunteer opportunities and get involved, contact
julie@4hcm.org
or click
HERE
.
FAQ: What is an HCMA Legislative State Champion?
An amazing group of volunteers with A SHARED COMMITMENT TO FIND the undiagnosed in their state!
We seek to improve cardiac screening in the “Well Child” examination for all children 19 and younger through:
Our goal: To help you take the Healthy Cardiac Monitoring Act (HCM Act) from aspiration to legislation to law in your state.
If you are interested in becoming a Legislative State Champion, please email Julie Russo and julie@4hcm.org.
Share Your Story (SYS)
HCMA Theme of the Month Stories
The HCMA themes for July 2024 are “COE Care” and “Vacationing with HCM” featuring the story of Amy Lenhart.
I was encouraged to find a Center of Excellence and found it helpful talking to those who really understood my challenges and took the time and compassion to listen to me – this helped me emotionally, and it helped alleviate my fears. I have the opportunity to live my life normally. There are scary things about HCM, but I now have hope, and I will be forever grateful for that.
To read more about Amy’s HCM journey, click
HERE
.
If you are a patient (or the parent/guardian of a patient) and are interested in sharing your story about your HCM journey. In that case, we need more patient stories than ever to help educate and spread awareness about HCM. To sign up to Share Your Story, click
HERE
. Under “Projects,” choose “Share My Story Volunteer Group.”
HCMA Ambassador Program
HCMA Featured Ambassador for July 2024 – Karen Klimczak
A little about Karen…
“I was diagnosed with HCM at 27 years old, with no family history and years of passing out/concussions (early 20s) during physical activity. Having grown up super active: playing tennis, hiking and weightlifting, HCM wasn’t easy to understand or diagnose.”
Click
HERE
to learn more about Karen and follow her and our other HCMA Ambassador volunteers on social media.
#4hcm
#BigHeartBigLife
#hypertrophiccardiomyopathy
If you would like to share your HCM experience via social media as an HCMA Ambassador, click
here
to apply for future workshops.
Legislative Advocacy
In June we hosted our Legislative State Champion training session with 21 states represented! Our State Champions will lead a small group of volunteers within their state through the process of passing the Healthy Cardiac Monitoring Act into law. With the support of the HCMA Legislative Committee members and staff, our State Champions will obtain a bill number in their state and support its passage into law. Volunteers interested in becoming a State Champion should email Julie Russo at
julie@4hcm.org
. Include the words “
State Champion
” and
the state you live
in the subject line of your email.
Ohio HCM Act Update:
Michigan HCM Act Update:
Free Online Patient Discussion Groups
Our online discussion group meetings are recurring, but you must register for each meeting date. Our meeting dates, times, and topics are updated regularly, so check our event calendar regularly to join a meeting (or more than one) best suited for you!
HCMA’s July 2024 Featured Discussion Group Leader: Paul Perlman
Paul co-hosts the HCMA monthly “All Things Myectomy” discussion group. He also hosts our “Pre-Myectomy education session for patients scheduled for myectomy surgery. Click on our
event calendar
for exact dates and times to register for Paul’s groups or any other volunteer-led online discussion groups.
Our free online discussion groups are open to all.
About Paul:
Paul is a retired lawyer from Orchard Park, NY. He was diagnosed with HCM in 2013 at Cleveland Clinic and received an ICD later that year. After his symptoms became more pronounced, Paul had a surgical myectomy in 2016.Click
HERE
to learn more about Paul and to view other online discussion group leader bios and themes.
The HCMA has many volunteer opportunities to help create the world we want to see for HCM patients and their families. To learn more about HCMA volunteer opportunities and get involved, contact
julie@4hcm.org
or click
HERE
.
FAQ: What is an HCMA Ambassador?
What if every person with HCM had an accurate diagnosis, and access to proper care and felt a little less “alone” by hearing from another patient’s experience?
You can help make this happen by using social media to share your experience living with HCM as an HCMA Ambassador.
Sharing your HCM patient journey can be done in many different ways. Our HCMA Ambassadors use the power of social media to create awareness about HCM.
You can post about your HCM journey from diagnosis to the current day. You can post about your experience finding the proper medication, care provider, or exercise regimen. You can post about your worries and fears and how you overcame them in a way that will inspire others. You can post as little or as often as feels right for you.
The HCMA themes for June 2024 are “Exercise, Balancing Work, Family and HCM While Keeping Fit (Mentally and Physically)” and “Loss, Grief and Support” featuring the story of John Orlando.
With my family around me, at 11:00 PM that evening, I was taken to the operating room. That’s the last thing I remember. When I woke up, it was Tuesday! The first thing I thought was, “I’m alive.”
To read more about John’s HCM journey, click
HERE
.
If you are a patient (or the parent/guardian of a patient) and you are interested in sharing your story about your HCM journey. In that case, we need more patient stories than ever to help educate and spread awareness about HCM. To sign up to Share Your Story, click
HERE
. Under “Projects,” choose “Share My Story Volunteer Group.”
HCMA Ambassador Program
HCMA Featured Ambassador for June 2024 – Mary Ann Daniel
A little about Mary Ann…
” After an echocardiogram and wearing a heart monitor, my cardiologist detected HCM. He told me I was at risk of sudden cardiac death, and a week later I had my first cardiac arrest while at the gym.”
Click
HERE
to learn more about Mary Ann and follow her and our other HCMA Ambassador volunteers on social media.
If you would like to share your HCM experience via social media as an HCMA Ambassador, click
here
to apply for future workshops.
Legislative Advocacy
There is still time to register for our June 18, 2024, at 6 PM ET HCMA Legislative State Champion training session. State Champions will lead a small group of volunteers within their state through the process of passing the Healthy Cardiac Monitoring Act into law. With the support of the HCMA Legislative Committee members and staff, our State Champions will obtain a bill number in their state and support its passage into law. Volunteers interested in becoming a State Champion should email Julie Russo at
julie@4hcm.org
. Include the words “
State Champion
” and
the state you live
in the subject line of your email.
Free Online Patient Discussion Groups
Our online discussion group meetings are recurring, but you must register for each meeting date. Our meeting dates, times, and topics are updated regularly, so check our event calendar regularly to join a meeting (or more than one) best suited for you!
HCMA’s June 2024 Featured Discussion Group Leader: Lynda Neuhausen
Lynda hosts the HCMA a monthly “Emotional Support” discussion group. Click on our
event calendar
for exact dates and times to register for Lynda’s or any other volunteer-led online discussion groups.
Our free online discussion groups are open to all.
About Lynda:
“I was a retail manager for 20 years and started a career as an attorney just before diagnosis. I love spending time with my kids, traveling, and meditation/yoga. Learning to live with this illness has been a journey, and if I can lend and facilitate assistance and support to others on theirs, I think it can bring us all hope and courage.”
Click
HERE
to learn more about Lynda and to view other online discussion group leader bios and themes.
There needs to be more clarity about exercise for HCM patients. Some doctors say, “don’t do anything physical,” and others say, “do whatever you want.” We can likely agree on one thing – they’re both wrong, and the best advice is somewhere in the middle.
Experts agree that exercise is healthy for people with HCM. Depending on symptoms, most people with HCM can safely do light exercise like walking.
Those with HCM who have no symptoms
may
be able to exercise without restrictions.
Most people with
symptomatic
HCM aren’t advised to do heavy exercise. It’s best to avoid intense activity that involves bursts of sprinting, heavy weightlifting, or contact sports like football.
Fast Facts About Exercising When You Have HCM:
An HCM specialist and team created a helpful approach to fitness at the Peter Munk Cardiac Centre in Toronto, Canada. This program has three fitness levels. Their website shows you how to maintain heart health through videos, medical information, and a proven exercise program.
https://hearthealthbydesign.com/
.
Golf outings aren’t just about perfecting your swing or enjoying a sunny day on the course—they’re also a powerful tool for raising awareness and funds for the HCMA. The organization has benefited from many volunteer-led golf outings over the years. The longest standing is the
George Dooley Golf Outing
, which has supported the HCMA while honoring the memory of George Dooley since 2016. This year’s event will be on September 16 in Kenilworth, New Jersey. If you’d like to run a golf tournament in your local community, please reach out to
support@4hcm.org
to discuss what resources HCMA can offer.
On April 20th, HCMA spread awareness of HCM and sudden cardiac arrest (SCA) at the Denville Little League’s opening day ceremony, which attracted over 1,000 residents. At HCMA’s booth, Lisa Salberg, Elena Morgan, Adam Salberg, Lisa Vecchione, Kim Walsh, Arniella Santos, and John Titus, shared information about HCM and SCA preparedness, while promoting an upcoming training focused on sports teams–
Drill: Dr. Heart
.
On April 27th, HCMA led a
Drill: Dr. Heart
training session. This hands-on training was designed to equip attendees with the skills to respond effectively to cardiac emergencies. One of the highlights of the training was the introduction to the new Automated External Defibrillators (AEDs) at Denville sports fields, led by Denville Emergency Manager, Wesley Sharples. The training wasn’t just for sports enthusiasts; it was emphasized that these skills are invaluable in various settings including workplaces, schools, and social gatherings—anywhere hearts gather.
The goal of
Drill: Dr. Heart
is to ensure that every sports team, student activity, classroom, and workplace is prepared for sudden cardiac arrest. Thanks to support from Defibtech, HCMA will give away four AEDs to deserving schools, sports teams, houses of worship, or community organizations through the Drill: Dr. Heart initiative. If you’d like to win an AED for your organization, complete the drill with your group and then
complete this form
to enter our competition.
The In-Person Bighearted Warriors Unite featuring The Christ Hospital & Cincinnati Children’s event held in Cincinnati, Ohio was a tremendous success, where we were pleased to see so many of you in person. The event commenced with a warm welcome address by Lisa Salberg. The day was focused on educating people about HCM, and it was led by HCM Program Directors Dr. Wojciech Mazur and Dr. Ankit Bhatia. The event featured a group of distinguished speakers, including Dr. Edward Schloss, Dr. Puvi Seshiah, Courtney Hannum, Cassady Palmer, Dr. Ryan Moore, Dr. Tom Ryan, and the Anderson & Steel Family. The HCMA would like to thank all of the staff and volunteers who worked tirelessly to make this day successful and impactful for the HCM community. Lastly, Brittany Johnson of The Christ Hospital took some beautiful photos that captured the essence of the event and are available for viewing.
We are looking forward to the next in-person event. Stay tuned for more!
The HCMA has many volunteer opportunities to keep you inspired, fulfilled, and active within the HCM community. Are you interested in learning more about becoming a discussion group leader? Are you interested in making a difference through the legislative process at the state or federal levels? How about helping to spread awareness about HCM by becoming an HCMA Ambassador or even a “Share Your Story” volunteer? Many opportunities exist to help create the world we want to see for HCM patients and their families. To learn more about HCMA volunteer opportunities and get involved, contact
julie@4hcm.org
or click
HERE
.
FAQ: What happens after I sign up to volunteer?
We will schedule a
Volunteer Intake
to get to know you better and discover your strengths and interests. Next, if you haven’t done so already (or it has been a while), we schedule a
Client Intake
to learn a little about your HCM patient journey. This will help us identify projects best suited for your clinical status. For example, suppose we are looking for obstructive patients who are also symptomatic to participate in a focus group to share their patient experiences. We will know which volunteers meet these criteria by completing a client intake.
Share Your Story (SYS)
HCMA Theme of the Month Stories
The HCMA themes for May 2024 are “Medical Management: What’s New, What’s Old, and What Works” and “Clinical Trials in HCM,” featuring the story of Dennis Passis.
In early 2021, Dennis drove six hours to his first appointment with a COE doctor and his team. At this appointment, his cardiologist mentioned a promising new drug therapy that was going for FDA approval and that he felt Dennis would be a good candidate once it was released.
To read more about Dennis’ HCM journey, click
HERE
.
Suppose you are a patient (or the parent/guardian of a patient) and are interested in sharing your story about your HCM journey. In that case, we need more patient stories than ever to help educate and spread awareness about HCM. To sign up to Share Your Story, click
HERE
. Under “Projects,” choose “Share My Story Volunteer Group.”
HCMA Ambassador Program
HCMA Featured Ambassador for May 2024 – Bill Rossi
A little about Bill…
“Bill Rossi is an entrepreneur, a veteran business leader in the Chicago area, and a devoted partner and father of twin girls. He is an inspirational LGBTQ+ advocate and a passionate proponent of health and fitness.” Bill also serves as a HCMA Board of Directors and Legislative Committee member.
Click
HERE
to learn more about Bill and follow him and our other HCMA Ambassador volunteers on social media.
#4hcm
#BigHeartBigLife
#hypertrophiccardiomyopathy
If you would like to share your HCM experience via social media as an HCMA Ambassador, click
here
to apply for future workshops.
Legislative Advocacy
On June 18, 2024, at 6 PM ET, we will host our first HCMA Legislative State Champion training session. State Champions will lead a small group of volunteers within their state through the process of passing the Healthy Cardiac Monitoring Act into law. With the support of the HCMA Legislative Committee members and staff, our State Champions will obtain a bill number in their state and support its passage into law. Volunteers interested in becoming a State Champion should email Julie Russo at
julie@4hcm.org
. Include the words “
State Champion
” and
the state you live
in the subject line of your email.
Free Online Patient Discussion Groups
Our online discussion group meetings are recurring, but you must register for each meeting date. Our meeting dates, times, and topics are updated regularly, so check our event calendar regularly to join a meeting (or more than one) best suited for you!
HCMA’s May 2024 Featured Discussion Group Leader: Sabrina Cuddy
Sabrina hosts the HCMA Pre-myectomy education/discussion group. Click on our
event calendar
for exact dates and times to register for Sabrina’s or any other volunteer-led online discussion groups.
Our free online discussion groups are open to all.
About Sabrina:
“I hold a BA in Psychology from the University of California, Berkeley, and a Master’s of Public Health from San Jose State University. In my other life, I am a mom) and a costumer who sometimes performs onstage, works backstage, and loves performing at the Dickens Christmas Fair in San Francisco.”
Click
HERE
to learn more about Sabrina and to view other online discussion group leader bios and themes.
Medical Management means using medications and other non-invasive therapies to treat disease and relieve symptoms. It’s exciting and historic that new treatments targeted for HCM are being studied and that the FDA approved Camzyos in 2022!
HCM can cause various symptoms depending on how stiff the heart is, how much scarring (fibrosis) there is, and whether there is obstruction. Some people have no noticeable symptoms. Symptoms of HCM may include chest pain/pressure, shortness of breath, lightheadedness, fatigue, palpitations, syncope (fainting)/near-syncope, and brain fog.
Medications are the first-line treatment for symptoms of HCM. If patients can’t tolerate one medicine, they can try another one in the same class or a medication from a different class. Here are some medications used to treat HCM and what they’re for:
To learn more and see the side effects of these medications, click
HERE
.
The HCMA is going on the road! We are holding our 1st in-person Bighearted Warriors Unite- Featuring The Christ Hospital & Cincinnati Children’s Hospital.
Where: The Summit Hotel – 5345 Medpace Way, Cincinnati, OH 45227
When: Saturday, May 4, 2024
Time: 9 am – 4 pm
Cost: Admission for 1 – $25.00
Admission for 2 – $35.00
Admission for 3 – $45.00
Admission for 4 – $50.00
(Breakfast & Lunch provided)
**NOTE: FREE OR DISCOUNTED SCHOLARSHIP ADMISSIONS ARE AVAILABLE FOR THOSE WHO QUALIFY FINANCIALLY. CALL THE HCMA OFFICE FOR DETAILS (973)983-7429 OR EMAIL
SUPPORT@4HCM.ORG
**
All proceeds go toward the HCMA Lori Fund!
The HCMA Lori Fund provides micro travel grants to HCM patients traveling to an HCMA Recognized Center of Excellence for care or HCM patients traveling to a facility for heart transplant care. Awards up to $600.00 are available per calendar year.
Our scholarship financial thresholds are based on household size and are generally three times the annual Federal Poverty Guidelines listed by the U.S. Department of Health and Human Services.
TENTATIVE AGENDA
9:00 am – Register (light breakfast provided)
9:45 am – Welcome address and opening comments from the HCMA
10:00 am- HCM Disease State Overview and Medical Therapeutics
10:30 am- Imaging in HCM
10:50 am – Future of HCM (Clinical Trials)
11:10 am – SCD Stratification/ HCM Arrhythmias
11:35 am – Q&A Panel
12:00 pm – Lunch Break (lunch provided)
1:05 pm – Generations of HCM – A Patient Perspective
1:25 pm – Surgical/ Intervention Therapies for HCM (historical and current)
1:45 pm – Genetic Testing and Future Therapeutics
2:15 pm – Pediatric HCM and Patient Journey to Adulthood (Cincinnati Children’s)
2:45 pm – Q&A Panel
3:00 pm – Closing remarks
The Christ Hospital HCM Clinic is a multidisciplinary cardiovascular program. The HCM Clinic provides patient-specific care and collaborates with subspecialties within the institution to address the complexity often associated with hypertrophic cardiomyopathy. The Christ Hospital provides a team of subspecialized cardiologists, electrophysiologists, CT, and Vascular Surgeons with various advanced diagnostic services and treatments. In addition, the HCM Clinic offers dedicated support staff, including a devoted physician’s assistant, registered nurse, HCM program coordinator, medical assistant, and HCM scheduler. The mission of The Christ Hospital’s HCM program is that they are committed to providing the highest quality of care to hypertrophic cardiomyopathy patients in our community by forming personalized strategies to empower each patient along their clinical pathway. Their vision is to “Create a seamless and accessible pathway for hypertrophic cardiomyopathy patients. The Christ Hospital HCM program is excited to be able to offer a nationally respected team of physicians and have at our patient’s disposal today’s most advanced therapies for the treatment and management of hypertrophic cardiomyopathy.”
HCM Program Director Dr. Wojciech Mazur and HCM Program Co-Director Dr. Ankit Bhatia say, “Our HCM clinical team recognizes the uniqueness of each individual patient diagnosed with HCM. We truly pride ourselves in the time we spend getting to know more about their challenges and victories. Our working relationship with the HCMA has made us more aware of the needs of HCM patients, and we have modeled our program to address current gaps in HCM management. The Christ Hospital Hypertrophic Cardiomyopathy Clinic is the second center of excellence in the state of Ohio, which will now open up more opportunities for our community. We are excited to offer our patients the most up-to-date medical management as well as enrollment into ground-breaking research trials.”
Team Members:
Wojciech Mazur, MD HCM Clinic Director
Ankit Bhatia, MD HCM Clinic Co-Director
J Michael Smith, MD Surgery
Dean Kereiakes, MD Interventional Cardiology
Puvi Seshiah, MD Interventional Cardiology
Edward Schloss, MD Electrophysiology
Daniel Pelchovitz, MD Electrophysiology
Gregory Egnaczyk, MD Advanced Heart Failure
Burns Blaxall, PHd Genetics
Courtney Hannum, LGC Genetics
Abigail Patterson, PA Physician Assistant
Cassady Palmer, Cardiac Research Sonographer
Please visit for more information about The Christ Hospital Health Network HCM Program – Cincinnati, OH please visit:
https://4hcm.org/christhosp/
What inspires you? Sharing your experiences to help educate or encourage others? Advocating with or for those with whom you share a common goal? The HCMA has many volunteer opportunities to keep you inspired, fulfilled, and active within the HCM community. To learn more about HCMA volunteer opportunities and get involved, contact
julie@4hcm.org
or click
HERE
.
Share Your Story (SYS)
HCMA Theme of the Month Stories
The HCMA themes for April 2024 are “Genetics/Family History” and “Genetic Therapies,” featuring the story of Collin Dolder.
Collin and his wife conceived their son using In vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD). He was born healthy and with no gene mutation.
Collin has been connected with the HCMA for over 20 years. Starting as a child himself, through having a child of his own.
To read more about Collin’s HCM journey, click
HERE
.
If you are a patient (or the parent/guardian of a patient) and are interested in sharing your story about your HCM journey, we need patient stories now more than ever to help educate and spread awareness about HCM. To sign up to Share Your Story, click
HERE
. Under “Projects,” choose “Share My Story Volunteer Group.”
HCMA Ambassador Program
HCMA Featured Ambassador for April 2024 – Joey Ulery Graham
A little about Joey…
”Joey is an HCM advocate and founding member of the steering committee for the HCMA Ambassador Program. He is a frequent guest on HCMA’s “Tales from the Heart” podcast…” Click
HERE
to learn more about Joey and follow him and our other HCMA Ambassador volunteers on social media.
#4hcm
#BigHeartBigLife
#hypertrophiccardiomyopathy
If you would like to share your HCM experience via social media as an HCMA Ambassador, click
here
to apply for future workshops.
Legislative Advocacy
Ohio Representative Sara P. Carruthers is the Bill Sponsor for
HB 356
, the “Healthy Cardiac Monitoring Act” (HCM Act). The HCMA drafted the HCM Act with components designed to help find undiagnosed HCM patients and patients with other genetic cardiac diseases by adding family heart health history questions to the “Well-child” examinations. There will be a hearing some time in May 2024 at the State House in Columbus, OH, with patients and physicians testifying in support of this important legislation. If you are an Ohio constituent interested in attending or testifying during this hearing to show your support, contact Julie at
julie@4hcm.org
for more details.
Free Online Patient Discussion Groups
Our online discussion group meetings are recurring, but you must register for each meeting date. Our meeting dates, times, and topics are updated regularly, so check our event calendar regularly to join a meeting (or more than one) best suited for you!
HCMA’s April 2024 Featured Discussion Group Leader: Sydelle Zinn
Sydelle co-hosts a monthly “ICD” Discussion Group. Click on our
event calendar
for exact dates and times to register for Sydelle’s, or any of our other volunteer led online discussion group.
Our free online discussion groups are open to all.
About Sydelle:
“My name is Sydelle. I was diagnosed with HCM at 53, after I became lightheaded on a trip to the zoo. My cardiologist made HCM real to me: no alcohol and no caffeine!…”
Click
HERE
to learn more about Sydelle and to view other online discussion group leader bios and themes.
Suppose you have been clinically (through an EKG, echocardiogram, and a visit with a cardiologist) diagnosed with HCM. In that case, most experts recommend that you have genetic testing to determine the underlying reason your heart is too thick.
Why does it matter?
Some hearts look like HCM but have a specific genetic mutation for one of the HCM spectrum disorders – Amyloidosis, Fabrys, Danon, Sarcoidosis, etc. These disorders are often managed differently from HCM alone, so you need to know if you have one.
HCM is mainly caused by gene mutations (sometimes called variants or markers). Not all HCM is linked to a specific variant, and we believe more mutations will be identified in the future.
In recent studies at large HCM Centers, about 40% of those tested had a gene mutation known to cause HCM. As of 2023, 60% will not have a mutation currently identified as causing HCM. It is still believed that HCM is a genetic disorder that families can pass down – even if the mutation is currently unknown.
Your genetic test can show one of three results:
If your genetic test is positive, this information can be used to screen family members to see if they have the same variant.
Your children, parents, and siblings can be tested for your variant, and if they don’t have it, they can skip clinical tests (echocardiogram, etc.) unless they develop heart symptoms.
A negative genetic test DOES NOT take away your HCM diagnosis
,
and it DOES NOT mean that your family can safely avoid clinical screening for HCM
(echocardiogram, EKG, and an exam by a cardiologist). Researchers are still discovering variants that may cause HCM and are starting to look into combinations of two or more genetic variants (
polygenetic
) that could cause HCM. If you do not have a known variant, your close relatives must be screened regularly using clinical tests to see if they develop HCM.
Once you’ve gone through our free
Intake
process, we will invite you to join our new
Nest
education program. For a great explanation of genetic testing in HCM, sign up for the Nest portal when you’re invited.
Knowing your mutation may allow gene therapy to treat your HCM in the future. Clinical gene therapy trials for those with a mutation on MYBPC3 have started! We expect other common HCM variants (such as MYH7, etc.) to be included in future clinical trials.
Welcome Spring! Our volunteers plant seeds of hope and positive change for the HCM community that blossom year-round. Spring is a time to look around and within and reflect on all that has passed and all that is yet to come. Last month, with Heart Month & HCM Awareness Day, we received a significant amount of interest from individuals desiring to become HCMA volunteers. The future is bright!
To learn more about HCMA volunteer opportunities and get involved, contact
julie@4hcm.org
or click
HERE
.
Share Your Story (SYS)
HCMA Theme of the Month Stories
The HCMA themes for the month of March is “Managing Arrythmias” and “Life with Devices” featuring the story of Victoria Collins.
Victoria remained asymptomatic until about six years ago when she had an episode of atrial fibrillation (Afib). Her Afib resulted in a blood clot forming in her heart. She received care from an HCMA recognized Center of Excellence (COE), underwent surgery to remove the blood clot and had a
Maze
procedure to treat her irregular heart rhythm issues.
To read more about Victoria’s HCM journey, click
HERE
.If you are a patient (or the parent/guardian of a patient), and are interested in sharing your story about your HCM journey, we need patient stories now more than ever to help educate and spread awareness about HCM. We especially need stories to support our legislative efforts to pass the HCM Act into law and to pass a proclamation/resolution designating HCM Awareness Day on the 4
th
Tuesday of February every year in every state. To sign up to Share Your Story, click the following link:
HERE
Under “Projects” choose “Share My Story Volunteer Group”.
HCMA Ambassador Program
HCMA Featured Ambassador for March 2024 – Breanna “Bre” Restorick
A little about Bre…
”I was originally diagnosed with HOCM in 2017 at the age of 29. Due to the severity of my obstruction, I had a septal myectomy in July of 2017, only a few months after diagnosis…” Click
HERE
to learn more about Bre and to follow her, and our other HCMA Ambassador volunteers, on social media.
#4hcm
#BigHeartBigLife
#hypertrophiccardiomyopathy
If you would like to share your HCM experience via social media as an HCMA Ambassador, click
here
to apply for future workshops.
Legislative Advocacy
Our legislative volunteers are engaging on both Federal and State level legislators to advocate for the HCM community to help find the undiagnosed, especially among underserved communities, with screening initiatives in both “Well-Child” examinations and “Welcome to Medicare” visits. Other legislative initiatives include access to proper treatment, adequately funded research and supporting the development and approval of safe and effective therapies.
If you would like to get involved, click
HER
E
and under “category”, choose “Advocacy”.
Free Online Patient Discussion Groups
Our online discussion group meetings are recurring, but you must register for each meeting date. Our meeting dates, times, and topics are updated regularly, so check our event calendar regularly to join a meeting (or more than one) best suited for you!
HCMA’s March 2024 Featured Discussion Group Leader: Karen Klimczak
Karen co-hosts a free online “Transplant Pathway” discussion group monthly. Click on our
event calendar
for exact dates and times to register for Karen’s, or any of our other volunteer led online discussion group.
Our free online discussion groups are open to all.
About Karen:
“I was diagnosed with HCM at 27 years old, with no family history and years of episodes of passing out/concussions (early 20s) during physical activity. Having grown up super active: playing tennis, hiking and weightlifting, HCM wasn’t easy to understand or diagnose…” Click
HERE
to learn more about Karen and to view other online discussion group leader bios and themes.
Vanderbilt Heart and Vascular Institute is among the best heart programs in the nation and the top-ranked program in Tennessee. The Genetic Cardiomyopathy Program and the multidisciplinary care team deliver expert care for HCM in adults and children and provide genetic counseling for their families. The Vanderbilt Team has additional board certifications in advanced heart disease, advanced imaging, cardiopulmonary exercise testing, arrhythmias, congenital heart disease, structural catheter-based intervention, and cardiac surgery. The Vanderbilt Team works closely with the doctors at Monroe Carell Jr. Children’s Hospital at Vanderbilt to help transition families from pediatric care to adult care. The team creates a care plan that meets your unique health goals and needs. Vanderbilt Health is one of the top heart transplant programs in the world, providing patients with outstanding outcomes and access to innovative new research and treatments.
The HCMA held a BigHearted Warriors Unite Webinar Series on Tuesday, March 5th, 2024 with the team at Vanderbilt Heart and Vascular Institute. In case you missed it here is the link to view the recording on Youtube
HERE
.
For more information on the Vanderbilt Heart and Vascular Institue HCM Program in Nashville, TN, please visit:
HERE
For more information on all HCMA Recognized Centers of Excellence, please visit
HERE
This year’s Hill Day Event during Heart Month was a success by all measures. It was our first year participating, and while it was a success, we’ve already come up with ideas on how to make it even better next year. This is what the HCM Community does – make something good and make it better!
Hill Day is an event that takes place on Capitol Hill in Washington, D.C. It was a day for us to generate awareness and education about HCM for our lawmakers and elected officials.
Hill Day by the numbers
29 Volunteers
joined us in Washington D.C.
4 Staff members
: Lisa, Elena, Stacey, and Linda. Let’s not forget our staffers who stayed at home to be able to fix, set, re-route, etc things for us while we were there. A special shout-out to Julie, Olivia, Ross, Sabrina, and Kim.
4 Board members
: Rosemary Conlon, Billur Dowse, Kevin O’Connor, and Bill Rossi.
68 People
attended the briefing.
3 COE clinicians:
spoke on our behalf – Dr. Martin Maron, Ms. Deatrah Debose, NP, and Dr. Steve Ommen.
3 Amazing individuals
spoke on how HCM has touched their lives.
Jared Butler
from the NBA’s Washington Wizards spoke about his HCM journey while continuing to play basketball at the professional level.
Amy Blair
, with her bittersweet story of the loss of her daughter Jillian. A tragic story of loss, yet our hearts are so grateful to Amy for sharing Jillian’s story. Amy’s motivation is to prevent anyone else from experiencing the loss she has.
Marsha Rosenberg
, 81 years young shared her story about how, with good care, you can live a healthy, long, fulfilled life. She is a great example of this; she is an extraordinary example of how to look and feel decades younger than you are!
15 Meetings conducted
with legislators and/or their staff.
An
arrhythmia
is a problem with the rate or rhythm of your heartbeat. It means that your heart beats too quickly, too slowly, or with an irregular pattern. This can be scary, but many arrhythmias are harmless, and others are very treatable!
Some common arrhythmias in HCM are atrial flutter/fibrillation, ventricular tachycardia/fibrillation, left or right bundle branch block, PVC, PAC, and more. Some arrhythmias are harmless, while others are serious and need treatment.
Which treatment your arrhythmia needs depends on where and what the problem is. Your cardiologist may send you to an electrophysiologist to help diagnose and treat arrhythmia.
Some arrhythmias can be controlled with medications, while others must be treated with ablation procedures. AFIB might be treated with cardioversion. Some arrhythmias require a pacemaker, and the most dangerous arrhythmias are best treated with an internal cardioverter-defibrillator (ICD).
Implantable devices used to treat arrhythmias
A
transvenous ICD
is a small battery-powered electronic device connected to the heart with wires called “leads.” ICDs can shock your heart out of dangerous arrhythmias, especially ventricular tachycardia or fibrillation. Some ICDs can act as pacemakers and treat an arrhythmia before it becomes dangerous, thus avoiding a shock.
A
subcutaneous ICD
(S-ICD) is a newer type of ICD that is implanted under the skin at the side of the chest below the armpit. It’s designed to prevent sudden cardiac arrest by delivering a shock if it detects a dangerous arrhythmia. It can’t act as a pacemaker.
A
pacemaker
prompts the heart to beat at a regular rate. You may need a pacemaker if you have
bradycardia
or a slow heart rate. You might need a pacemaker if you have a heart block – the ventricle’s electrical signal is partly or totally blocked. A pacemaker can’t shock you out of a dangerous rhythm.
Ablation for Arrhythmia
When medications don’t control arrhythmia, treatment with ablation is sometimes possible. This is particularly common for
atrial fibrillation
(AFIB). Two types of ablation are
radio-frequency/cryoablation
and
pulmonary vein isolation
.
Sometimes, ablation can be done for other types of arrhythmias but may not be as effective as those for AFIB. If you have myectomy surgery and have AFIB, sometimes a procedure called
MAZE
is done during surgery to treat the arrhythmia.
Yale New Haven Hospital Heart and Vascular Center offer multidisciplinary services from the latest imaging techniques and genetic profiling of HCM to advanced diagnostic testing, treatment options, and clinical trials – all with an emphasis on compassion and communication.
Yale New Haven’s well-established HCM center provides specialized, expert physicians and staff specially trained to manage HCM. This multidisciplinary team has the experience necessary to provide seamless care to patients and their families at every age and stage of this disease. Yale has three Co-Directors of the HCM Program: Dr. Rachel Lampert, Dr. John Stendahl, and Dr. Sounok Sen.
The HCM team includes specialists in:
Services include medical management, genetic counseling, family screening, advanced management of heart rhythm disorders, catheter-based procedures, and surgical interventions when necessary. Yale New Haven HCM Team provides clinical trial access and monthly support group meetings.
The Yale New Haven HCM Team recently participated in our BigHearted Warriors Unite Webinar Series. If you would like to watch team members Dr. Rachel Lampert, Dr. John Stendahl, Dr. Sounok Sen, Dr.Arya Mani, and Dr. Nikhil Sikand’s free Bighearted Warriors education webinar, please visit
https://www.youtube.com/live/xXvmdTJNxKQ?si=oFRIw70lYUmM-FL6
.
For more information on the Yale New Haven HCM Program in New Haven, CT, please visit:
https://4hcm.org/yale/
Happy Heart Month! February is going to be a busy month for the HCMA but, with the help of our volunteers, it truly makes the load a lot lighter!
To learn more about HCMA volunteer opportunities and get involved, contact
julie@4hcm.org
or click
HERE
.
HCMA Theme of the Month Stories
The HCMA themes for the month of February is
“HCM Awareness”
and
“Sharing Stories of Life with HCM”
featuring the story of Lisa Salberg, HCMA Founder and CEO.
“I was 12 years old, and standing in the school nurse’s office waiting to get my heart listened to. The doctor, a little old man, sat on a round stool looking bored. As the stethoscope rose to my chest – suddenly he looked interested, maybe even a little panicked, he called over the nurse to take a listen. I had a pretty good idea of what was happening, and it was frightening but, kids were watching and I had to stay cool…”
To read more about Lisa’s HCM journey, click
HERE
.
Heart Month HCM Heroes of the Day
: During February 2024 (American Heart Month), we will be featuring one HCM Hero patient story each day while using social media to ensure their story reaches a broader audience. Many thanks to our Share Your Story volunteers who worked with us to present the story of their HCM journey during the month of February to help spread awareness about HCM.
If you are a patient (or the parent/guardian of a patient) and are interested in sharing your story about your HCM journey, we need patient stories now more than ever to help educate and spread awareness about HCM. We especially need stories to support our legislative efforts to pass the HCM Act into law and to pass a proclamation/resolution designating HCM Awareness Day on the 4
th
Tuesday of February every year in every state. To sign up to Share Your Story, click the following link:
https://bit.ly/3DNBKJI
Under “Projects” choose “Share My Story Volunteer Group”.
HCMA Ambassador Program
HCMA Featured Ambassador for February 2024 – Susan Shapiro
A little about Susan:
After losing another family member to HCM, Susan used what she had learned from the HCMA as she set out to educate her family members about risk assessment, genetic testing, and COEs in hopes of preventing another tragedy… Click
HERE
to learn more about Susan and follow her, and our other HCMA Ambassador volunteers, on social media.
#4hcm
#BigHeartBigLife
#hypertrophiccardiomyopathy
If you would like to share your HCM experience via social media as an HCMA Ambassador, click
here
to apply for future workshops.
Legislative Advocacy
We are ready for “The Hill” with
m
any thanks to those who volunteered to join us
as we embark on our first visit to the Capitol to begin working with Members of Congress to address the needs of the HCM community.
On
Wednesday, February 14th (Valentine’s Day!),
our volunteers will be meeting us in Washington, DC at 7 AM (you KNOW what they say about the “early bird”!). We will assign teams of 3 to 4 to work together attending pre-scheduled meetings with Members of Congress, and/or their staff. Our goal is to share patient stories and drive home the message of the importance of finding the undiagnosed, the need to adequately fund research, and the importance of breaking down the barriers to proper treatment. In between meetings, we will be handing out Valentine’s Day candies and printed invitations to members of targeted committees, inviting them to attend an HCMA-hosted legislative briefing & luncheon on February 15th.
On Thursday, February 15th,
we will start the day at 7:30 AM with more meetings with Members of Congress and/or their staff until 12 Noon where we will convene at the Rayburn House in Washington, DC for an HCMA-hosted Bipartisan Congressional Lunch Briefing. This briefing brings patients, parents, clinicians, and thought leaders together to discuss issues of great importance to our community with Members of Congress:
• Why screening for these heart disorders must become the norm – especially among underserved populations and those entering Medicare.
• Why access to proper treatment can save lives and reduce healthcare costs.
• Why research must be adequately funded.
• Why policymakers should support the development and approval of safe and effective therapies- and access
Free Online Patient Discussion Groups
Our online discussion group meetings are recurring, but you must register for each meeting date. Our meeting dates, times, and topics are updated regularly, so check our event calendar regularly to join a meeting (or more than one) best suited for you!
HCMA’s February 2024 Featured Discussion Group Leader: Gwen Mayes
Gwen hosts a free online “Emotional Support” discussion group monthly. Click on our
event calendar
for exact dates and times to register for Gwen’s, or any of our other volunteer led online discussion group.
Our free online discussion groups are open to all.
About Gwen:
“As a discussion group leader, I focus on self-awareness and stress management. During my career, I was a physician assistant, lawyer, and spent 30 years as a health policy leader in Washington, DC…” Click
HERE
to learn more about Gwen and to view other online discussion group leader bios and themes.
Here are some HCM basics that everyone should know:
Some HCM statistics
About 50% of adults with HCM present with symptoms. You can be diagnosed with HCM at any age. It’s common to be diagnosed during the teenage years, but the average age of diagnosis in the HCMA database is 39 years.
https://4hcm.org/hcm-development/
70% of those with diagnosed HCM are obstructed (called HOCM); for more info, please see the
obstruction
page on our website.
25% of people with HCM would benefit from ICD therapy to protect them from sudden cardiac arrest (SCA). Risk stratification for SCA can help you and your doctors decide if you need an ICD and what kind is best for you.
Traditional Transvenous ICD
–
Subcutaneous ICD
Fewer than 5% of those with HCM will eventually need a
heart transplant
.
The Hypertrophic Cardiomyopathy Program at Corewell Health (formerly Spectrum Health) in Grand Rapids, Michigan, was founded in 2013 and recognized as an HCMA Center of Excellence in 2017.
The Hypertrophic Cardiomyopathy Program at Corewell Health offers a “comprehensive patient-centered approach to diagnosis, education, and treatment, bringing our resources around our patients wherever possible. We facilitate family screening of HCM patients along with our pediatric cardiology clinic. Our echocardiography lab offers multiple regional locations to allow patients to remain in their community for much of their testing. Our approach has also evolved during the COVID-19 pandemic to include virtual visits with providers and our genetic counselor. Our more advanced services include cardiac MRI, heart catheterization and electrophysiology labs, as well as advanced heart failure therapies including heart transplant.”
Program Director Dr. David Fermin says, “Our clinic cares for 1028 HCM patients and their families. Our cardiothoracic surgeon, Dr. Timek, performed 14 septal myectomy surgeries last year, contributing to an increase in our patients’ quality of life. Excitingly, we participated in groundbreaking clinical trials for Mavacamten, including EXPLORER-HCM, MAVA-LTE and VALOR-HCM, enrolling several of our patients. We continue our involvement in clinical trials of both Mavacamten and Aficamten for patients with both obstructive and nonobstructive HCM.
We have enjoyed teaming with the HCMA to enhance the lives of those with Hypertrophic Cardiomyopathy. “
The Corewell Health HCM Team recently participated in our BigHearted Warriors Unite Webinar Series. If you would like to watch this free education webinar, please visit
https://www.youtube.com/watch?v=lo7U7jZUeIg&t=106s
.
For more information on Corewell Health (formerly Spectrum Health) HCM Program in Grand Rapids, Michigan, please visit:
https://4hcm.org/corewell/
By: Lisa Salberg, Founder and CEO Hypertrophic Cardiomyopathy Association
A new health insurance workaround could endanger the health of patients, particularly those with chronic illnesses like hypertrophic cardiomyopathy. This “new” concept is done in an attempt to cut costs for employers. This scheme is dubbed as the “alternative funding program.”
In the context of hypertrophic cardiomyopathy (HCM) — a heart condition in which the heart muscle becomes abnormally thick — timely and appropriate treatment is especially critical. HCM is a leading cause of sudden cardiac death in young athletes and can cause heart failure in patients of any age. Under these alternative funding programs, third-party vendors advise employers to exclude higher-cost specialty medications, which could include medication for HCM patients, from their employees’ benefit plans. They then steer these patients to apply to patient assistance programs, avoiding health plans’ financial obligations to pay for medications. Patient access programs are primarily designed for individuals who are uninsured or financially disadvantaged.
Vendors advocate for these programs as a mutual benefit. Yet, the reality unveils a slew of challenges while diverting the patient assistance funds directly to insurance plans and not to patients.
Detriments to Patient Health with HCM
Misusing programs, especially ones provided by patient assistance nonprofits or pharmaceutical companies’ foundations, leads to logistical, medical, and financial complications. These models benefit the payor and penalize the patients.
For HCM patients, the process of applying and receiving approval for patient assistance could delay access, increase risk, and prolong symptom relief. Without their medications, HCM patients can experience increased pressure in their hearts and severe symptoms. They are also at risk for arrhythmia, advanced heart failure, or stroke. Delays in care can be catastrophic.
Furthermore, since these alternative funding programs fall outside the purview of regular health plans, the payments made by HCM patients toward their medications do not contribute to their annual insurance deductible. Consequently, they might end up paying significantly more throughout the year.
As an example, in a traditional plan, if a medication costs $1,000 per month, the insurance company may pay $800, and the patient pays $200 in copays and deductibles. In an alternative funding model, the patient may pay $200 for that same $1,000 medication, but the insurance company pays $0, and the patient assistance program pays $800. The $200 paid by the patient does not count toward their copay, deductible, or out-of-pocket maximum for the year, thus resulting in them paying more for their healthcare over the year.
The Bottom Line for HCM Patients
Patients with hypertrophic cardiomyopathy need timely access to their prescribed treatments. These alternative funding schemes introduce unnecessary delays and exploit the financial assistance systems meant for genuinely needy individuals. While employers might dodge the bullet of high prescription drug prices, they’re still incurring charges from the alternative funding vendors. Meanwhile, the labyrinthine drug pricing system only becomes more convoluted and less patient-friendly.
Patients with HCM and other genetic heart condition-and frankly, all Americans-deserve the consistent access they anticipated when they signed up for their health plan. The “alternative” touted by third-party vendors is alarmingly inadequate for them and overly burdens patient assistance programs. We believe legislative efforts should be engaged to outlaw this dangerous practice.
To learn more, you may wish to review these links:
The
ORCCA study
aims to prospectively monitor clinical outcomes in athletes with potentially life‐threatening cardiovascular conditions. The study will assess long‐term cardiovascular outcomes, psychosocial well‐being, and sports eligibility decision‐making in competitive athletes aged 18 to <35 years diagnosed with a cardiovascular condition or borderline finding with potential increased risk of major adverse cardiovascular events. Athletes must be participating in competitive sport at the collegiate, semi-professional, professional, elite, or national level at the time of enrollment or within the last two years. Athletes with a qualifying cardiac diagnosis who return to sport, stop voluntarily, or are excluded from sport are eligible.
Attached are 1) a patient information pamphlet, 2) study inclusion criteria, and 3) the easy steps to enroll a patient. To enroll an eligible patient, simply go to our
ORCCA study
homepage, click the red “Register” tab in the upper right corner, and complete a brief enrollment form. We have found doing this with the patient in the exam room is best and takes less than 2 minutes. The ORCCA study team will contact the patient to obtain formal HIPPA and informed consent. There is a $100 gift to patients who complete enrollment and a $50 gift to patients who complete the follow-up surveys every 6 months. You can find more information on the
ORCCA study
homepage and in the full
ORCCA study protocol
recently published in JAHA.
Contributors to the ORCCA study who enroll at least one patient will be recognized as a member of the “ORCCA Study Group”. The ORCCA Study Group will be included on the author’s byline in subsequent publications with individual names listed at the end of the manuscript and registered in Medline.
We’ve been urging you to learn a few important points about your disease because HCM has various presentations and important metrics.
Knowing the answers to these questions gives a healthcare provider a snapshot of your disease and also facilitates eligibility for clinical trials.
Current trials:
If you are interested in any of these trial opportunities, please send me an email with your contact information – my email is
linda@4hcm.org
.
If you haven’t gone through the HCMA Intake process within the last two years, please schedule an Intake Call on the website
https://4hcm.org/education-and-support/
.
This will give us the best understanding of your current health, HCM presentation, and potential eligibility in upcoming trials.
We have the plan and the road map and, with the help of our volunteers, we will reach our destination to ensure our mission to provide support, education, advocacy and care to those with HCM.
To learn more about HCMA volunteer opportunities and get involved, contact
julie@4hcm.org
or click
HERE
.
Share Your Story (SYS)
HCMA Theme of the Month Stories
One of our HCMA themes for the month of January is “HCM Yearly Update” featuring the story of Nadia Morgan, who has graciously provided us with an update to her HCM journey.
If you want to share your HCM story, please email
julie@4hcm.org
to schedule an interview. Patient stories are essential to help educate and spread awareness about HCM!
HCMA Ambassador Program
HCMA Featured Ambassador for January 2024 – Maier Bianchi
If you would like to share your HCM experience via social media as an HCMA Ambassador, click
here
to apply for future workshops.
Legislative Advocacy
We are going to
The Hill!
On February 15
th
we are hosting a briefing with federal policymakers in Washington, DC to ask them to add cardiac screening questions to the “Welcome to Medicare” visit and Annual Wellness exam. We are also looking to highlight the urgent role they play in improving heart-health screening for the underserved and to urge them to help take down barriers to treatment. There has never been a better time to get involved to help find the undiagnosed and improve patient outcomes with these legislative efforts. Email
julie@4hcm.org
to learn how you can get involved!
Free Online Patient Discussion Groups
Our online discussion group meetings are recurring, but you must register for each meeting date. Our meeting dates, times, and topics are updated regularly, so check our event calendar regularly to join a meeting (or more than one) best suited for you!
HCMA’s January 2024 Featured Discussion Group Leader: Karen Newstrom
We are looking for HCM patients without obstruction experiencing shortness of breath, palpitations, tiring easily, and want to be in a clinical trial. In this trial, HCM non-obstructed patients will have the opportunity to participate in a myosin inhibitor trial, which assesses the safety and efficacy of mavacamten in this population. Mavacamten is an investigational product that has not been approved by FDA.
The trial name is ODYSSEY. You might be eligible if you are age 18 or older and experience symptoms related to your HCM. If interested, please
click the link
to take this quick survey to see if you pre-qualify.
In the survey, you can identify a clinical trial site and authorize HCMA to share your contact information with them, or you may contact them yourself.
You must advocate for yourself to ensure you get the best care for your HCM. An essential first step is having a plan that includes the tests you will likely need and how often you should see your cardiologist. To make this planning more manageable, the HCMA offers Navigation Calls. Members can take advantage of this every year. Non-members are encouraged to complete our
Intake and Navigation Call
at least once to help you get on track with your care.
We encourage you to see an HCM expert at an
HCMA Recognized Center of Excellence (COE)
if possible, and we are continually expanding this program to give you more options. For those outside the US, we can often help you find an HCM expert, although we have yet to cover every country.
Is cost limiting your ability to take advantage of these services? The HCMA offers
scholarship memberships
, and the
Lori Fund
can provide grants of up to $600 per year to cover the cost of traveling to a COE.
For HCM patients who are stable, here are some general guidelines for regular
testing
:
If your symptoms change, you should always contact your cardiology team to discuss whether a medication change or other treatment would help you stay stable. Make flexibility part of your plan to account for changes in your condition. Remember that each patient is different, and some can safely go 2-3 years between visits, while others may need to see their team every six months or less.
Yujiro Yokoyama and colleagues conducted a meta-analysis of studies that compared both techniques. They focused primarily on all-cause mortality with at least one year follow-up. Secondary outcomes they studied included permanent pacemaker implantations, 30-day mortality, cardiovascular mortality ≥1 year of follow-up, reduction in left ventricular pressure gradient, repeat operations for left ventricular obstruction, strokes, and rehospitalizations due to heart failure. The review included 27 studies, with over 6000 ASAs and over 9000 SMs.
Results: mortality
All-cause mortality was similar for the two methods at one-year. However, in the subset of studies that followed up patients for at least five years, the all-cause mortality was increased among ASA patients, with an increased risk of about 20%.
Results: efficacy and complications
ASA was associated with less reduction of the left ventricular pressure gradient (on average, about 11 mmHg less reduction). The chance of a patient needing a second ASA or SM was about 9 times greater for ASA than for SM. There were no significant differences between treatments in risk of stroke or hospitalization due to heart failure.
Last words
Septal myectomy is regarded as the “gold standard” for treating obstruction. ASA is recommended mainly for those who would be poor surgical candidates.
Literature cited
Y. Yokohama, et al. 2023. Alcohol septal ablation versus surgical septal myectomy of obstructive hypertrophic cardiomyopathy: systematic review and meta-analysis, _European Journal of Cardio-Thoracic Surgery, Volume 63, Issue 3, March 2023, ezad043,
https://doi.org/10.1093/ejcts/ezad043
Through collaboration with Reasonable Accommodations LLC, the HCMA has expanded some of our COE directories. This expansion will make it easier to find travel information, places to eat, lodgings, etc. Only a handful of COE directories have been updated so far, in 2024 we plan on populating the rest.
You can check out the new expanded directories using the links below.
Our volunteers give the HCM community so many things to be grateful for! They generously share their hearts, experiences and time to help so many and we are truly thankful for each and every one of you! There are so many more who are willing to be a part of our mission to provide support, education, advocacy and care to those with HCM and we are looking forward to engaging you all in the upcoming year in new and continuing projects. The HCMA would like to wish you all a safe, happy and healthy holiday season and New Year!
To learn more about HCMA volunteer opportunities and get involved, contact
julie@4hcm.org
or click
HERE
.
Share Your Story (SYS)
HCMA Theme of the Month Stories
One of our HCMA themes for the month of December is “Gratitude” featuring the story of Christine Callans.
If you want to share your HCM story, please email
julie@4hcm.org
to schedule an interview. Patient stories are essential to help educate and spread awareness about HCM!
HCMA Ambassador Program
HCMA Featured Ambassador for December 2023 – Lekeshia Henderson
Click
HERE
to learn more about Lekeshia and follow her, and our other HCMA Ambassador volunteers, on social media.
If you would like to share your HCM experience via social media as an HCMA Ambassador, click
here
to apply for future workshops.
Legislative Advocacy
Our legislative volunteers are working hard to help pass resolutions/proclamations and laws in all states to declare the 4
th
Wednesday in February of 2024 as “Hypertrophic Cardiomyopathy Awareness Day”. This effort, and our efforts to pass the “Healthy Cardiac Monitoring Act (HCM Act)” into law in every state, takes a large and dedicated team! If you are interested in helping with these efforts in your state, email
julie@4hcm.org
to learn how you can get involved!
Free Online Patient Discussion Groups
Our online discussion group meetings are recurring, but you must register for each meeting date. Our meeting dates, times, and topics are updated regularly, so check our event calendar regularly to join a meeting (or more than one) best suited for you!
HCMA’s December 2023 Featured Discussion Group Leader: Greg LeValley
Greg co-hosts an “All Things Myectomy” online discussion group monthly. Click on our
event calendar
for exact dates and times to register for Greg’s, or any of our other volunteer led online discussion group.
Our free online discussion groups are open to all.
Duke Hypertrophic Cardiomyopathy Center – Durham, NC
The Duke Hypertrophic Cardiomyopathy Center has been an HCMA Center of Excellence since 2018 and is a part of the Duke Heart Center in Durham, North Carolina. “We have created a dedicated, multi-disciplinary team of physicians, nurses, advanced practice providers, and genetic counselor who are focused on providing personalized, high quality, and evidence-based case for patients with HCM and improving the knowledge of this condition and its treatments. We were very pleased to describe the work of our experienced HCM team members at the recent HCMA Big Hearted Warriors Tour on November 16, 2023.” Duke’s recent Bighearted Warrior Webinar:
https://www.youtube.com/watch?v=nW4U1hYvZAE
Dr. Andrew Wang the director of the Duke Hypertrophic Cardiomyopathy Center, and because of the growing population in this area and HCM patients seeking expertise for their care, we have an additional cardiologist (Dr. Deepa Upadhyaya, with expertise in cardiac imaging) available to see patients in a timely manner. The practice can accommodate same-day testing in the same convenient location for HCM care, including genetic counseling and testing, and coordinate other tests and consultations. The cardiac MRI team is highly experienced in the evaluation of HCM and was one of the first groups to describe the ability of MRI to identify and quantify scar in the heart muscle of many HCM patients. Duke’s heart surgeon, Dr. Carmelo Milano, is highly experienced in surgical myectomy and mitral valve repair in HCM, and a leader in heart transplantation as well. Our Duke Heart Center is consistently among the centers in the US with the highest annual heart transplant numbers, with shortlisting times for patients requiring urgent treatment.
The Duke Hypertrophic Cardiomyopathy Center includes:
-Andrew Wang, MD HCM Program Director
-Carmelo Milano, MD Surgeon (Myectomy and Transplant)
-James Daubert, MD Adult Electrophysiology
-Adam DeVore, MD Advanced Heart Failure and Heart Transplantation
-Todd Kiefer Interventional Cardiology
-Deepa Upadhyaya, MD HCM Cardiologist and Echocardiography
– Kaitlyn Amos, MS, CGC Genetic Counselor
– Han Kim, MD Cardiac MRI
-Andrew Landstrom, MD Pediatric Cardiology
-Michael Carboni, MD Pediatric Electrophysiology
Please visit for more information about Duke Hypertrophic Cardiomyopathy Center in Durham, NC
The Hypertrophic Cardiomyopathy Association played a key role at this fall’s HFSA and AHA conferences, actively engaging as exhibitors and offering valuable educational opportunities for the medical community. Their presence emphasized a dedication to increasing awareness and fostering discussions on hypertrophic cardiomyopathy, contributing to the broader conversation on cardiovascular health. Through their participation, the association further solidified its position in advancing knowledge and support within the medical community.
A standout feature at both conferences was the William Clifford Roberts, MD Heart Collection—a testament to patient advocacy. Community members generously donated their HCM hearts for educational purposes. Observing an end-stage HCM heart provides a unique perspective compared to traditional imaging methods like echo or MRI, highlighting the necessity for medical management and care at high-volume centers of excellence.
Gratitude has benefits for both mental and physical health as well as our relationships with those around us. When we’re thankful for anything positive in our lives, it leads to a shift in mindset that helps us feel better and take action to stay as healthy as possible. What can you think of that’s been good for you this month? What about this year? Who are the people in your life you appreciate? What in your life makes you feel grateful?
Being grateful can help us manage stress. It can even help keep blood pressure from rising in response to stress if we have recently felt grateful.
Gratitude can help improve mood and stave off depression. Robert Emmons is a researcher who has studied gratitude and well-being. His research shows that happy people are more likely to take steps to stay healthy, such as exercising, eating right, and seeing their doctor or dentist regularly. People who write a few things they’re grateful for in a journal every evening sleep better, and we all know how much better we feel when we have a good night’s rest!
We at the HCMA talk a lot about resilience. Gratitude helps you to be more resilient when something bad happens to you, and it can give you some insulation against all the things happening in the world. Instead of focusing on what’s wrong, someone who practices gratitude can see what’s going right.
A study in Massachusetts of those with acute coronary syndrome found that patients had more improvement in health-related quality of life as well as less depression and anxiety when they showed gratitude and optimism during recovery. Now, this isn’t HCM, which we know is a chronic condition, but it also applies to us. (
Millstein, Celano, Beale, et al., 2016
)
People who practice gratitude regularly are more likely to act socially thoughtful and empathetic. They are more sensitive towards other people. They also feel less competitive and often have higher self-esteem. It’s one of the easiest ways to improve your satisfaction with your life. Remember, if you’re happy, you’re more fun to be around, which can benefit your social and professional life.
It’s been 24 years – and we will never forget. Twenty-four years without my brother, George, who was also a son, husband, father, teacher, coach and so much more than the roles he played.
George died at the young age of 41 from Hypertrophic Cardiomyopathy (HCM), leaving behind a wife, 2 small children, and family and friends who loved him dearly. It was an incredible shock to everyone. After all, he seemed healthy, was a high school teacher, a coach of several sports, and a young active person. But as we learned, HCM can impact anyone and often go undetected or misdiagnosed.
The Hypertrophic Cardiomyopathy Association (HCMA) has taught us a great deal. This is why we donate a percentage of the profits from our golf outing hosted by The George Dooley Memorial Foundation. George was an avid golfer, and the golf outing is a way to keep George’s legacy alive, raise awareness of HCM, and raise funds for a variety of causes.
How wonderful it was this year to hear that the golf outing was SOLD OUT and we unfortunately had to turn people away. But what an outstanding show of support for George, his family, and for the cause. Now of course we know golfers also come because they love the sport, the event is a lot of fun, and there is food, drink, and great raffle prizes!
So not only do we want to thank the many golfers, sponsors, donors, and volunteers, but we also want to thank HCMA for the important work they do every day. And we know that George, being quite the joker, was looking down upon us all, thinking, “I could have made that shot!” And then – he smiles.
-Linda Dooley
At the HCMA, November is when we’re thinking about weight management. We all know that winter months and holiday foods can lead to potential weight gain, and it happens to the best of us. It’s easy to gain weight with all the less healthy options in front of us – face it, we all love yummy treats! Those of us with HCM do better if we stay as close to our ideal weight as possible, so having an eating strategy over the holidays can help.
Here are some tips to think about:
Some people with HCM report that they don’t feel well or have worse symptoms after eating meals, particularly large ones or those with their “trigger foods” – researchers haven’t formally studied this, so pay attention to signs that your body reacts badly to carbs, large meals, or alcohol. Those with atrial fibrillation may find that alcohol, chocolate, cheese, and other foods may trigger them into an episode of afib.
Your symptoms are a good guide! You may feel better eating smaller amounts of food at each meal.
If you’re like most people, telling yourself you can’t have a particular food can frustrate you; that’s why having a plan is essential and may stop you from making poor choices that will hinder your enjoyment of the holiday season. Your plan can include a favorite treat or two. Creating a plan isn’t always a guarantee for success, but not having a plan may lead to feeling poorly and having to bow out of social activities – and that’s no fun.
Another way to avoid gaining holiday pounds is to get some exercise. Make it a family tradition to go for a walk between dinner and dessert! Remember that those with HCM can generally exercise at a level based on THEIR heart. If you still need to discuss an exercise plan with your medical team, please do so! Leading a sedentary lifestyle can add other health problems, which can add to complications of your HCM; you don’t need that. Finally, make sure you stay hydrated, set a plan, and have a wonderful holiday season!
The Christ Hospital HCM Clinic is a multidisciplinary cardiovascular program. The HCM Clinic provides patient-specific care and collaborates with subspecialties within the institution to address the complexity often associated with hypertrophic cardiomyopathy. The Christ Hospital provides a team of subspecialized cardiologists, electrophysiologists, CT, and Vascular Surgeons with various advanced diagnostic services and treatments. In addition, the HCM Clinic offers dedicated support staff, including a devoted physician’s assistant, registered nurse, HCM program coordinator, medical assistant, and HCM scheduler. The mission of The Christ Hospital’s HCM program is that they are committed to providing the highest quality of care to hypertrophic cardiomyopathy patients in our community by forming personalized strategies to empower each patient along their clinical pathway. Their vision is to “Create a seamless and accessible pathway for hypertrophic cardiomyopathy patients. The Christ Hospital HCM program is excited to be able to offer a nationally respected team of physicians and have at our patient’s disposal today’s most advanced therapies for the treatment and management of hypertrophic cardiomyopathy.”
HCM Program Director Dr. Wojciech Mazur and HCM Program Co-Director Dr. Ankit Bhatia say, “Our HCM clinical team recognizes the uniqueness of each individual patient diagnosed with HCM. We truly pride ourselves in the time we spend getting to know more about their challenges and victories. Our working relationship with the HCMA has made us more aware of the needs of HCM patients, and we have modeled our program to address current gaps in HCM management. The Christ Hospital Hypertrophic Cardiomyopathy Clinic is the second center of excellence in the state of Ohio, which will now open up more opportunities for our community. We are excited to offer our patients the most up-to-date medical management as well as enrollment into ground-breaking research trials.”
Team Members:
Wojciech Mazur, MD HCM Clinic Director
Ankit Bhatia, MD HCM Clinic Co-Director
J Michael Smith, MD Surgery
Dean Kereiakes, MD Interventional Cardiology
Puvi Seshiah, MD Interventional Cardiology
Edward Schloss, MD Electrophysiology
Daniel Pelchovitz, MD Electrophysiology
Gregory Egnaczyk, MD Advanced Heart Failure
Burns Blaxall, PHd Genetics
Courtney Hannum, LGC Genetics
Abigail Patterson, PA Physician Assistant
Cassady Palmer, Cardiac Research Sonographer
Please visit for more information about The Christ Hospital Health Network HCM Program – Cincinnati, OH please visit:
https://4hcm.org/christhosp/
Hello readers! I am sharing a letter I wrote to my sister on October 6, 2023 while sitting in a sesson at the Heart Failure Society of America annual scientific session held in Cleveland Ohio. I intended this letter as a way to talk to my sister who passed away in June 1995. For those of you who have lost a loved one, we know we talk to them often, but I felt on this topic I wanted to write a letter – I later read this letter at the HCMA annual meeting. Lori is truly the core of all work done at the HCMA – she is my super power, my guide, my heart and my very loved sister.
Dear Lori,
The day you left us our world shattered. Your children were in pain and it was our job to continue your work to give them roots and wings. Today they are grown, married, successful in their chosen career paths, happy, healthy, and kind humans. You are now the grandmother of 2 beautiful boys. You also are an aunt to my beautiful daughter Rebecca who you felt kick my very pregnant belly as you were in a coma prior to your passing, she was born a month after you left. You also have 3 great nieces who are beautiful young ladies.
Shortly after your passing I was incredibly angry, your death was preventable. I spent years making people, institutions, and policy makers accountable for their failures. I am going to tell you about some of this shortly.
You were 36 when you died, I was 26. Your children are now older than you ever were on earth. I have lived longer without you then with you. It is hard to believe because you have been the most influencetual person in my life.
Every holiday table or party your laugh is missed, your cooking… well it was always a topic of conversation which are also missed. We have missed you so very much in many ways. Everytime I hear Crocodile Rock I see you dancing in your bedroom, 20 years old, beautiful, happy, and full of life.
So why after 10,340 days or 28 years, 3 months, 21 days, am I writing to you? Do you remember the day we say in your house at the dining room table and talked about starting a support group for patients with HCM? Well Sis, I did a “thing”. I want to tell you about it.
I started a non profit organization to address the needs of the hypertrophic cardiomyopathy community and ensure the medical errors that lead to your death end, in short I dedicate my life to keep patients safe, families whole, and advancing clinical care and the science. I admit I am my harshest critic, but after 28 years I can look back and see the efforts have paid off but more work is needed.
The organization is the Hypertrophic Cardiomyopathy Association, we are a board of 12, staff and contractors of 15, 400 volunteers, 50 HCMA Recognized Center of Excellence (COE) programs, over 500 clinicians, researchers, and COE staff. A year ago a fund was created in your name to assist patient with travel to access health care for HCM. The newest challenge yet wonderful one is we are partnering with industry. Lori there are now drug therapies specifically for HCM and many under development. But, what happened this week is something I wasn’t sure I would see in my life. A young woman, 27 years old was given a simple injection in an IV which contained a piece of genetic material to correct the gene mutation that causes HCM, in fact the same mutation that runs in our family MYBPC3. It is early days and only one brave amazing woman, it’s so incredibly inspiring that a cure may someday be possible for some, including your children and grandchildren and mine.
My work isn’t done, in fact in someway it feels like it’s just begun.
Lori – you changed the HCM world, your story is known around the world, patients have found their way to care worldwide because of you and I wanted to let you know what an honor it has been being your sister.
I will write again, I miss you, love you and know someday we will be together again but for now I have lots of work to do down here.
The Christ Hospital HCM Clinic is a multidisciplinary cardiovascular program. The HCM Clinic provides patient-specific care and collaborates with subspecialties within the institution to address the complexity often associated with hypertrophic cardiomyopathy. The Christ Hospital provides a team of subspecialized cardiologists, electrophysiologists, CT, and Vascular Surgeons with various advanced diagnostic services and treatments. In addition, the HCM Clinic offers dedicated support staff, including a devoted physician’s assistant, registered nurse, HCM program coordinator, medical assistant, and HCM scheduler. The mission of The Christ Hospital’s HCM program is that they are committed to providing the highest quality of care to hypertrophic cardiomyopathy patients in our community by forming personalized strategies to empower each patient along their clinical pathway. Their vision is to “Create a seamless and accessible pathway for hypertrophic cardiomyopathy patients. The Christ Hospital HCM program is excited to be able to offer a nationally respected team of physicians and have at our patient’s disposal today’s most advanced therapies for the treatment and management of hypertrophic cardiomyopathy.”
HCM Program Director Dr. Wojciech Mazur and HCM Program Co-Director Dr. Ankit Bhatia say, “Our HCM clinical team recognizes the uniqueness of each individual patient diagnosed with HCM. We truly pride ourselves in the time we spend getting to know more about their challenges and victories. Our working relationship with the HCMA has made us more aware of the needs of HCM patients, and we have modeled our program to address current gaps in HCM management. The Christ Hospital Hypertrophic Cardiomyopathy Clinic is the second center of excellence in the state of Ohio, which will now open up more opportunities for our community. We are excited to offer our patients the most up-to-date medical management as well as enrollment into ground-breaking research trials.”
Our volunteers are true “GEMS” to the entire HCM community and the HCMA has created the Volunteer GEM Awards program to help us formally recognize each of our volunteers individually for their role in helping the HCMA educate, support, and spread awareness to our HCM community.
The VGA program will encourage our volunteers to track the hours they dedicate throughout the year so we can recognize them at the end of each year with fun prizes and other forms of appreciation.
Prizes will be awarded for volunteer hours accumulated between September 1st and August 31st each year, and can include social media frames, an honorable mention in our newsletter, on our website, or in social media, a thank you voucher for a gift of your choice from our HCMA online store (the value of this voucher goes up with each GEM Award level) and more! In last month’s newsletter, we gave a big “shout-out” to our first GEM Award winners and we will be awarding even more prizes for their contributions this month. We look forward to even more winners next year! Click
HERE
to learn more about the HCMA Volunteer GEM Awards program. Start logging your volunteer hours today! Click
HERE
for instructions on how to log your hours or contact our Volunteer Coordinator at julie@4hcm.org.
Share Your Story (SYS)
HCMA Theme of the Month Stories
Our HCMA themes for November are “Weight Management” and “Preparing for the Holidays – Meals, Family and Holiday Stressors” featuring the story of Bill Rossi.
Bill had always been involved in competitive sports, including weightlifting and participating in numerous 5k and 10k runs. When Bill began experiencing shortness of breath after mild physical activity, he decided to see a cardiologist. He was diagnosed with Hypertrophic Obstructive Cardiomyopathy (HOCM). According to Bill, “From that moment, my life changed seemingly overnight. I was told I could never compete in sports again. Ever.” …read more about Bill’s story
HERE
.
If you want to share your HCM story, please email
julie@4hcm.org
to schedule an interview. Patient stories are essential to help educate and spread awareness about HCM!
HCMA Ambassador Program
HCMA Featured Ambassador for November 2023 – Gwen Mayes
A little about Gwen: I’m in my mid-60s, and have had symptoms of HCM since
childhood, diagnosed in my 20s, and have done well with medication and lifestyle
changes. I’m followed at two COEs and by a local cardiologist. For me, the frightening
arrhythmias and emotional toll have been the most difficult to manage.
Click
HERE
to learn more about Gwen and how to follow her, and our other HCMA
Ambassador volunteers, on social media.
#4hcm
#BigHeartBigLife
#hypertrophiccardiomyopathy
If you would like to share your HCM experience via social media as an HCMA
Ambassador, click here to apply for future workshops.
Legislative Advocacy
Many state legislators are back in session now and our legislative volunteers are working hard to help pass resolutions/proclamations and laws in all states to declare the 4th Wednesday in February of 2024 is “Hypertrophic Cardiomyopathy Awareness Day”. This effort, and our efforts to pass the “Healthy Cardiac Monitoring Act (HCM Act)” into law in every state takes a large and dedicated team! If you are interested in helping with these efforts in your state, email julie@4hcm.org to learn how you can get involved!
Free Online Patient Discussion Groups
Our online discussion group meetings are recurring, but you must register for each meeting date. Our meeting dates, times, and topics are updated regularly, so check our event calendar regularly to join a meeting (or more than one) best suited for you!
HCMA’s November 2023 Featured Discussion Group Leader:
Lynda Neuhausen
Lynda leads an “Emotional Support” online discussion group monthly. Click on our
event calendar
for exact dates and times to register for Lynda’s, or any of our other volunteer-led online discussion groups. Our free online discussion groups are open to all.
About Lynda:
I live in Tampa Bay, Florida, and am a single mom of three. I experienced major heart symptoms at age 39 but was not diagnosed until 46. I had 2 myectomies in 2012 and continued to struggle with symptoms. I was a retail manager for 20 years and started a career as an attorney just before diagnosis. I love spending time with my kids, traveling, and meditation/yoga. Learning to live with this illness has been a journey, and if I can lend and facilitate assistance and support to others I will.
If you’re
Newly Diagnosed
with HCM or have been living with symptoms for a long time, you may sometimes struggle with the emotional aspects of this condition. The HCMA is here to help you! Here are some of the resources we have available:
Twice a month, we offer
Emotional Support Discussion Groups
via Zoom. These sessions are a great place to learn coping skills, talk about your feelings, and meet your peers so you know you aren’t alone! You can also find Zoom groups on our calendar for other topics in HCM that may help you feel better.
From our Big Hearted Warriors Unite Tour, during the 3/10/22 session with
Ascension St. Thomas Heart
, there is a video segment by Dr. Ronald Salomon titled “Coping with HCM – Building Resilience.” Dr. Salomon is a psychiatrist working within the HCM Center of Excellence, which gives him a unique understanding of the challenges of those living with HCM. This segment starts around 1 hour 26 minutes into the video.
If you aren’t already a member of our
Facebook private group
, consider joining! Simply request to join the group and answer the 4 questions. Only those with HCM or close family members are allowed to join, so you can get the perspective of others living with HCM and be supported by your peers.
If you need more emotional health care, don’t be embarrassed to talk to a therapist. It isn’t a weakness that you need a specialist to care for your heart, and it isn’t weak to find a specialist to care for your mind! Ask your medical care team if they can recommend a mental health therapist specializing in HCM or chronic illness. You may need to research if they don’t know one in your area. You may also need to try several therapists to find one that clicks with you – that will make a difference in how much they can help you!
As a patient advocate, I believe that treating the whole person is essential, which means your mind, emotional state, and physical symptoms. One example is how you can increase an arrhythmia by becoming anxious when it happens. Of course, it’s natural to be anxious when your heart does something unusual, but through mindfulness, relaxation, and other coping techniques, you can avoid making yourself feel worse. You can balance your emotional state by educating yourself about when the feelings in your body are important signals to pay attention to and call your doctor about and when those feelings are things you can safely ignore. The
HCMA
can help you become educated in general, and talking with your medical team can help you become educated about your individual condition.
My experience with the medical system began when I was a young child running around like most little kids do, but I became very short of breath and tired after a brief bit of exercise. My pediatrician diagnosed me with asthma and gave me an inhaler.
When I was seven years old, I collapsed while running laps in gym class. This was the 1970’s and I was sent to the principal’s office to wait for my mother to pick me up. She didn’t think anything of it because I had been a sickly child all my life, but my grandmother pushed for me to see the pediatrician. He detected a heart murmur and referred me to the Children’s Hospital of Detroit.
At the Children’s Hospital of Detroit, I was diagnosed with Idiopathic Hypertrophic Subaortic Stenosis (IHSS). This would later be classified as Hypertrophic Cardiomyopathy (HCM). As a child, I had no idea what that meant and neither did my mother. I was given beta-blockers and had to return once every summer for checkups.
At the age of 16, I was transferred to the care of a new cardiology practice opening in our small town. This new doctor never talked to me, the patient, but spoke with my mother. She didn’t understand most of what he told her, only telling me that I was not expected to live past the age of thirty years.
When I became an adult, I continued to see the same cardiologist who told my mother of my “expiration date” because he was the only cardiologist in town. Growing up with a heart condition, I had become used to regular doctor visits and always following doctor’s orders, so I never thought to question anything he said.
When I turned thirty and didn’t die, I began to think that the doctor might be wrong. My symptoms worsened, even with beta blockers and antiarrhythmic drugs, and the same cardiologist suggested I might need a pacemaker. Due to my absolute lack of understanding of my condition, I thought he was suggesting open heart surgery and balked at the idea. He referred me to another cardiologist at a larger practice who might be better equipped to help me.
This new cardiologist swapped some of my meds for a different combination and told me I didn’t need a pacemaker. But he never gave me any further information about my condition, and I never thought to ask. At my last appointment with him, he was not concerned about my worsening symptoms.
During that appointment, I told him about a recent business trip where I ran through the airport to catch my flight. During that run, I felt light-headed and like I was going to pass out. This was not a feeling I had experienced before. He asked if I felt any shortness of breath climbing stairs, and I told him that I did not. He was not concerned about the airport episode, instead noting that I had gained eight pounds since my last visit six months earlier.
“I think you would feel better if you lost ten pounds,” he told me. That was it. There was no echocardiogram, no blood work, no outpatient heart monitor. The nurse took my blood pressure and the doctor listened to my heart for thirty seconds.
Several weeks later, I came down with what I thought was the flu. It was the Christmas holiday weekend, and I went to the urgent care nearest my home. The doctor on duty confirmed the flu and prescribed Tamiflu. After Christmas, I followed up with my primary care physician because my cough had worsened. He diagnosed bronchitis. I returned to work after the New Year’s holiday, but I kept getting sicker, developing a worsening shortness of breath. This time, my primary care physician diagnosed pneumonia.
Two days later, I went to the emergency department at the hospital because I had reached the point that I could not breathe lying flat and even sitting up in the recliner to sleep had me struggling to draw a breath. I felt like I was drowning in dry air and began to panic.
It was the doctor at the emergency department who accurately diagnosed me with Congestive Heart Failure (CHF) and admitted me for treatment. After five days of receiving diuretics, several liters of fluid were removed from my body, and I could breathe freely again.
Even at this point, my understanding of my heart condition was sorely lacking. I falsely believed that the fluid removal had cured me. Unfortunately, I learned very quickly that the fluid was only one symptom of my underlying condition.
During this hospital admission, my original cardiologist came to my bedside. He was not surprised by the sudden failure of my heart, and he said the words I will never forget.
“This is the normal progression of your disease. Your heart will grow weaker until it stops. There is nothing more we can do for you.”
This was January of 2004, and the internet was still in its infancy. I read everything I could find about my heart condition and joined Yahoo Groups dedicated to CHF. One of the people I met online gave me the advice that saved my life. She told me to go to the Cleveland Clinic for a second opinion.
It was a stroke of luck that I was able to get an appointment at the Cleveland Clinic and it was there that I received an accurate diagnosis and a thorough plan of care. Just as important, they educated me on my condition and how to care for myself. They were the first medical providers to suggest a heart transplant for my condition.
I still had a long road ahead of me, but I had learned about my condition and how to advocate for myself. Without this, I would not be alive today. Always ask questions and push for answers. Don’t be afraid to seek a second opinion.
September brings many opportunities for our community to learn and share our experiences with HCM through
trials, focus groups, and survey work
.
You have heard us stress the importance of understanding your presentation of HCM and if you are obstructed or non-obstructed. This is the prime factor in two of our projects.
We are also building focus groups to look at the KCCQ tool for use in HCM, a focus group of men who have HCM and are symptomatic, and continuing our work with focus groups for genetic therapy.
If you are interested in any of these trial or focus group opportunities, please send me an email with your contact information – my email is
ross@4hcm.org
. If you have not gone through the HCMA Intake process within the last two years, we will be asking you to complete an intake so we can have the best understanding of your current health and HCM presentation.
Volunteers significantly contribute to the success of the Hypertrophic Cardiomyopathy Association and our commitment to providing support, education, advocacy, and advancement of research, understanding, and care to those with HCM. The tireless dedication of our volunteers gives us the extra hand needed to make our community’s healthcare experiences positive. To learn more about HCMA volunteer opportunities and get involved, contact
julie@4hcm.org
or click
here
.
Share Your Story (SYS)
Our HCMA themes for September are “Septal Reduction Options” and “Managing Non-Obstructed HCM” featuring the story of
Maya Warren
.
If you want to share your HCM story, please email
julie@4hcm.org
to schedule an interview. Patient stories are essential to help educate and spread awareness about HCM!
HCMA Ambassador Program
HCMA Featured Ambassador for September 2023 – Reinhard (Fritz) Kirchhof
A little about Fritz:
My Name is Reinhard Kirchhof. Everyone calls me Fritz. 72 Years old, retired, born in Frankfurt Germany, immigrated in 1957 with my parents and presently residing in Howell, New Jersey. Diagnosed 27 years ago for HCM way before we had all these COE’s. I am widowed from Janet, my wife of 44 years and have 2 sons, one of who is diagnosed with HCM. Additionally, I have 2 grandchildren, one of whom has also been diagnosed. Both are being followed.
Click
HERE
to learn more about Fritz and our other HCMA Ambassador volunteers on social media. If you would like to share your HCM experience via social media as an HCMA Ambassador, click
here
to apply for future workshops.
Legislative Advocacy
Thank you to our volunteer state “Champions” in OH, FL, MA, DE, MD, NY, NV, CT, IL, IN and IA who are getting the word out to state legislators about the
Healthy Cardiac Monitoring Act (HCM Act).
We aim to pass the HCM Act into law in all 50 states. This effort takes a team! If you are interested in helping any of our champions in the above states or, if you would like to become a champion in another state, email
julie@4hcm.org
to learn how you can get involved!
Free Online Patient Discussion Groups
Our online discussion group meetings are recurring, but you must register for each meeting date. Our meeting dates, times, and topics are updated regularly, so check our event calendar regularly to join a meeting (or more than one) best suited for you!
HCMA’s September 2023 Featured Discussion Group Leader: Trudy Tynan
Trudy hosts a monthly “HCM Symptoms” Discussion Group. Click on our event calendar for exact dates and times to register for Trudy’s online discussion group.
Our free online discussion groups are open to all.
About Trudy:
My name is Trudy Tynan and I am retired after 30 years as a reporter with The Associated Press. Fifteen years ago, I was diagnosed with HCM, at the age of 60, and have undergone and alcohol ablation and later an ablation for a-fib. I work part-time as a writing tutor at Holyoke Community College in western Massachusetts where I live. I have a passion for birding, especially seabirds. Being a discussion group leader affords me the opportunity to help a group that will ultimately encourage and support each other in facing our own individual journeys with HCM.
The volunteer hours have been calculated from September 1, 2022 through August 31, 2023 and we would like to say congratulations to our HCMA Volunteer GEM Awards Recipients! As a big “thank you!”, each GEM Award winner will receive prizes commensurate with the GEM level they have achieved.
When symptoms of obstruction (such as shortness of breath, exercise intolerance, light-headedness, and fainting) persist despite using medications, or if obstruction severely restricts blood flow from the heart to the body, it’s time to consider septal reduction. What kind of septal reduction therapy is suitable for any patient depends on many factors you can discuss with your HCM team. If you need help understanding these options or would like guidance on how to speak with your doctor, please
contact the HCMA
.
Camzyos
is the first FDA-approved medication for the treatment of symptoms of obstruction in HCM. It’s worth a try for some people before they move on to invasive procedures. For others, it may be a long-term solution that allows them to avoid invasive procedures but because it is so new we don’t know. Other medicines for this purpose are currently in clinical trials.
A septal
myectomy
is open-heart surgery used to treat the obstruction to blood flow caused by thickening of the heart muscle or an interplay between valves, papillary muscles, or chordae (parts of the internal functioning of the left ventricle and mitral valve). Myectomy removes tissue from the septum that separates the left and right ventricles below the aortic valve. A myectomy eliminates or significantly reduces the obstruction. After this procedure, patients often report feeling rapid relief of their symptoms.
Sometimes obstruction is partly caused by structural issues of the mitral valve, and these can be repaired or the valve replaced during the myectomy surgery. In addition, if atrial fibrillation (afib) is present, a
MAZE
may be performed during the myectomy surgery.
Because open heart surgery allows all of these procedures to be performed at one time, and because of the relief of symptoms, the myectomy is called “the gold standard” of septal reduction. The safest place to have a myectomy is a high-volume
Center of Excellence
for HCM.
For those with the proper anatomy, an alternative, less invasive procedure is available for septal reduction called
alcohol septal ablation
(ASA). In an ASA, a thin, flexible catheter with a balloon tip is threaded through a blood vessel in your groin to the artery that carries blood to your septum. Alcohol is inserted through the catheter. This will kill some heart muscle cells, causing the tissue to shrink over time. The balloon is then deflated and removed from your body.
While ASA seems appealing because it is less invasive, myectomy has a stronger record of both safety and success. Myectomy is not recommended for patients who are poor risks for surgery. Generally, this means people who are frail because of age or other medical conditions. An ASA may reduce obstruction in those people and relieve many symptoms. Because ASA requires very particular heart anatomy, it cannot be done in every patient. If you also need mitral valve repair, coronary artery bypass, or repositioning of the papillary muscles, they cannot be done during an ASA. Finally, ASA often causes a Right Bundle Branch Block, which disturbs the heart’s electrical conduction (although you aren’t likely to have any symptoms or problems from it alone). Septal myectomy often causes a Left Bundle Branch Block. If you have an ASA and your obstruction isn’t relieved, and a myectomy is needed later, this may lead to a complete heart block, and you could become pacemaker dependent.ASA is a good tool in our HCM toolbox, but it is not a miracle or a replacement for myectomy when septal reduction is appropriate.
Septal Reduction September
When symptoms of obstruction (such as shortness of breath, exercise intolerance, light-headedness, and fainting) persist despite using medications, or if obstruction severely restricts blood flow from the heart to the body, it’s time to consider septal reduction. What kind of septal reduction therapy is suitable for any patient depends on many factors you can discuss with your HCM team. If you need help understanding these options or would like guidance on how to speak with your doctor, please
contact the HCMA
.
Camzyos
is the first FDA-approved medication for the treatment of symptoms of obstruction in HCM. It’s worth a try for some people before they move on to invasive procedures. For others, it may be a long-term solution that allows them to avoid invasive procedures but because it is so new we don’t know. Other medicines for this purpose are currently in clinical trials.
A septal
myectomy
is open-heart surgery used to treat the obstruction to blood flow caused by thickening of the heart muscle or an interplay between valves, papillary muscles, or chordae (parts of the internal functioning of the left ventricle and mitral valve). Myectomy removes tissue from the septum that separates the left and right ventricles below the aortic valve. A myectomy eliminates or significantly reduces the obstruction. After this procedure, patients often report feeling rapid relief of their symptoms.
Sometimes obstruction is partly caused by structural issues of the mitral valve, and these can be repaired or the valve replaced during the myectomy surgery. In addition, if atrial fibrillation (afib) is present, a
MAZE
may be performed during the myectomy surgery.
Because open heart surgery allows all of these procedures to be performed at one time, and because of the relief of symptoms, the myectomy is called “the gold standard” of septal reduction. The safest place to have a myectomy is a high-volume
Center of Excellence
for HCM.
For those with the proper anatomy, an alternative, less invasive procedure is available for septal reduction called
alcohol septal ablation
(ASA). In an ASA, a thin, flexible catheter with a balloon tip is threaded through a blood vessel in your groin to the artery that carries blood to your septum. Alcohol is inserted through the catheter. This will kill some heart muscle cells, causing the tissue to shrink over time. The balloon is then deflated and removed from your body.
While ASA seems appealing because it is less invasive, myectomy has a stronger record of both safety and success. Myectomy is not recommended for patients who are poor risks for surgery. Generally, this means people who are frail because of age or other medical conditions. An ASA may reduce obstruction in those people and relieve many symptoms. Because ASA requires very particular heart anatomy, it cannot be done in every patient. If you also need mitral valve repair, coronary artery bypass, or repositioning of the papillary muscles, they cannot be done during an ASA. Finally, ASA often causes a Right Bundle Branch Block, which disturbs the heart’s electrical conduction (although you aren’t likely to have any symptoms or problems from it alone). Septal myectomy often causes a Left Bundle Branch Block. If you have an ASA and your obstruction isn’t relieved, and a myectomy is needed later, this may lead to a complete heart block, and you could become pacemaker dependent.ASA is a good tool in our HCM toolbox, but it is not a miracle or a replacement for myectomy when septal reduction is appropriate.
What is the recall
: The FDA has issued a Class 1 recall of Medtronic ICDs and CRT-Ds, manufactured after 2017, with a glassed feedthrough.
Why are these devices recalled
: These devices were recalled because they may deliver low or no energy output when high voltage therapy is needed. This is due to inappropriate activation of the Short Circuit Protection (SCP) feature.
How to check if it affects me
: You can find this information on the device card you received when your device was implanted. You can visit the Medtronic website
here
to look up your device by product name, model or serial number to see if your device is affected.
What should I do if it affects my device
: If your device is affected by this recall, you should receive a letter in the mail or a call from your device clinic. If you have not received a letter or call, you can always reach out to your clinic.
What is being recommended
: Medtronic is
not
recommending replacement of these devices.They are recommending that patients with the affected ICDs continue with routine remote monitoring and in-clinic visits. Reprogramming can be performed at your in-clinic visit, if needed.
You can read more about the Medtronic recall
here.
What is the recall:
Philips is notifying customers of a potential issue with the Adult SMART Pads Cartridge (M5071A) and the Infant/Child SMART Pads Cartridge (M5072A) for use specifically with the HeartStart HS1/OnSite/Home AEDs.
Which AED pads does it affect
: This recall affects only the Philips Adult SMART Pads Cartridge [REF: M5071A] and the Infant/Child SMART Pads Cartridge [REF: M5072A] for use with the HeartStart HS1/OnSite/Home AEDs.
Why are these pad cartridges recalled
: Philips has identified that for affected pads, some gel may fold onto itself, resulting in reduced surface area of gel on the pad, or it may separate almost completely leaving only a small amount of gel on the pad to make contact with a patient’s skin. If this occurs, the HS1 AED could deliver less effective or ineffective therapy. As affected pads are stored in sealed cartridges, this issue will not be visible until the cartridge is opened for use.
How to check if it affects me
: M5071A Adult and M5072A Infant/child pads cartridges with a LOT number that begins with “Y” may experience the issue. You can check this on your cartridge box.
What should I do if it affects my device
: Philips will provide to customers who respond one updated Adult pads cartridge, free-of-charge, per HS1/OnSite/Home AED in service. Unexpired M5071A spare pads cartridges with a LOT number that begins with “Y” will be replaced, free-of-charge. Infant/child pads cartridge updates will be handled separately. If you own an M5072A Infant/child pads cartridge, Philips will provide, free-of-charge, update M5072A Infant/child pads cartridges when available to replace unexpired Infant/child pads cartridges.
Linda hosts our “Newly Diagnosed” education groups. These free online education sessions are ideal for those newly diagnosed (within the past two years) or those new to the HCMA. Linda offers several dates ×s each month to make it convenient for all to attend.
About Linda:
I am one of seven children, which has taught me how to get along with different personalities, stand up for those who need it, and never forget where I came from. I’ve had an amazing career in Global Pharmaceuticals over the past couple of decades. Getting closer to the patients was always my goal, so I changed careers and entered Patient Advocacy as an employee of the HCMA. As an HCMA employee and a Discussion Group Leader of the Newly Diagnosed, I’ve had the privilege of conducting many of your Intake Calls. I hope I’ve made you feel warmly welcomed into the HCMA community.
While I do not have HCM, I am passionate about helping people with rare diseases and transplantation. I work as a volunteer for an Organ Donation group.
I live in NJ, and in my time away from the office, I enjoy visiting my son in Dallas, spending time with my English Bulldogs, and being outdoors.
Volunteers significantly contribute to the success of the Hypertrophic Cardiomyopathy Association and our commitment to providing support, education, advocacy, and advancement of research, understanding, and care to those with HCM. The tireless dedication of our volunteers gives us the extra hand needed to make our community’s healthcare experiences positive. To learn more about HCMA volunteer opportunities and get involved, contact
julie@4hcm.org
or click
here
.
Share Your Story (SYS)
HCMA Theme of the Month Stories
Our HCMA themes for August are “Newly Diagnosed or Change in Symptoms/Status” and “Adjusting the Sails,” featuring the story of
Armonnie (Monnie) Hawkins
.
If you want to share your HCM story, please email
julie@4hcm.org
to schedule an interview. Patient stories are essential to help educate and spread awareness about HCM!
HCMA Ambassador Program
Please follow our
HCMA Ambassadors
on social media. Like, comment, or share their posts to help them spread awareness about HCM.
#4hcm
#BigHeartBigLife
#hypertrophiccardiomyopathy
HCMA Featured Ambassador for August 2023 – Lauren Donoghue-Cinelli
About Lauren:
Lauren was born and raised in the Boston suburbs and was diagnosed with HCM when she was 16. During a routine well-visit, her pediatrician suggested having a heart murmur checked as a precaution. While all was well that year, she was diagnosed two years later at the next check-up. HCM runs in her family, though she was the first diagnosed.
Nearly 25 years, two ICDs, and five heart surgeries later, Lauren is thrilled to be volunteering with the HCMA!
Lauren does campaign marketing for an events company, works with healthcare and life science companies, and loves to read and buy books (which are two different hobbies!). Follow her bookstagram account @laurenlizlibrary to see recommendations and funny memes about reading! She loves spending time at her home-away-from-home, Lake Winnipesaukee in New Hampshire and currently lives with her husband in the Boston suburbs. They continue to debate getting a dog!
Follow Lauren on social media and help spread awareness about HCM:
Facebook – Lauren Donoghue-Cinelli
Twitter – laurenliz615
Instagram – laurenliz615 and laurenliz_hcmwarrior
LinkedIn – Lauren Donoghue-Cinelli
If you would like to share your HCM experience via social media as an HCMA Ambassador, click
here
to apply for future workshops.
Legislative Advocacy
We are looking for “Champions” in every state to get the word out to legislators about the Healthy Cardiac Monitoring Act (HCM Act). We aim to pass the HCM Act into law in all 50 states. State Champions will be trained and supported through the process, from beginning to end, by HCMA staff members and members of the HCMA Legislative Committee. We’ve had a lot of interest from our community (thank you!), and we will reach out in August to those who have already signed up to volunteer for our legislative effort. If you have not already signed up, it’s not too late.
Sign up to be a legislative volunteer
Our online discussion group meetings are recurring, but you must register for each meeting date. Our meeting dates, times, and topics are updated regularly, so check our event calendar regularly to join a meeting (or more than one) best suited for you!
HCMA’s August 2023 Featured Discussion Group Leader: Linda Montgomery
Linda hosts our “Newly Diagnosed” education groups. These free online education sessions are ideal for those newly diagnosed (within the past two years) or those new to the HCMA. Linda offers several dates ×s each month to make it convenient for all to attend.
About Linda:
I am one of seven children, which has taught me how to get along with different personalities, stand up for those who need it, and never forget where I came from. I’ve had an amazing career in Global Pharmaceuticals over the past couple of decades. Getting closer to the patients was always my goal, so I changed careers and entered Patient Advocacy as an employee of the HCMA. As an HCMA employee and a Discussion Group Leader of the Newly Diagnosed, I’ve had the privilege of conducting many of your Intake Calls. I hope I’ve made you feel warmly welcomed into the HCMA community.
While I do not have HCM, I am passionate about helping people with rare diseases and transplantation. I work as a volunteer for an Organ Donation group.
I live in NJ, and in my time away from the office, I enjoy visiting my son in Dallas, spending time with my English Bulldogs, and being outdoors.
Please remember to log your volunteer hours regularly to participate in our Volunteer GEM Awards (VGA) program and be recognized at the end of the year with fun prizes and other forms of appreciation. Click
GEM
to learn more about our HCMA Volunteer GEM Awards Program and how you can get involved.
It may feel overwhelming to learn about this new diagnosis or figure out how to “adjust the sails” to manage your HCM if things are changing. The HCMA is here for you – you are not alone! Besides the information in this newsletter and on our website, you can contact us for an Intake and Navigation Call or, if you have already spoken with us, an Update Call. Either way, sign up with Intake first and let us know if you need a new intake or an update:
https://4hcm.org/education-and-support/
. If you are outside the US, you can request a Zoom call to save on long-distance call costs.
I have HCM; now what?
Breathe! On average, we live as long as anyone else when we properly care for our HCM. We are more likely to get good care at a high-volume center – a Center of Excellence. The American College of Cardiologists and the American Heart Association guidelines for HCM agree about high-volume centers.
HCM is characterized by thickening of the heart muscle (hypertrophy means “a thickening of muscle fibers”). Even with minimal thickening, though, we can have symptoms due to stiffness of the heart muscle and other factors caused by myocardial disarray, which means that the heart muscle cells aren’t lined up normally. For more information, follow this link:
https://4hcm.org/newly-diagnosed
.
You can find great support in our
Discussion Groups
and on Facebook. Remember that those of us seeking support from the
Facebook group
are most often those with more problems related to HCM. If you are newly diagnosed, you can learn a lot from the group, but you may be alarmed by what some of us are going through. Just know that your HCM may not be as dire as some of the accounts you read online. Most people have a few symptoms that are easily managed with medications. The group is private, and you will find excellent peer support if you become a member.
You may develop new symptoms over time – don’t panic!
HCM symptoms can stay the same for a patient’s lifetime, but for many of us, things change. Some will develop an
arrhythmia
– an irregular heart rhythm that may be concerning or may just be annoying. Obstruction can increase over time, causing new symptoms or more intense symptoms. For these reasons, it is vital to be followed regularly by your HCM specialist. You might need a change of medications or other treatment to improve your quality of life. The HCMA can help you understand your latest test results, organize your thoughts so you know what to ask your doctor, or help you find a new team to manage your care. We are here for you, so don’t hesitate to
contact us
!
Volunteers significantly contribute to the success of the Hypertrophic Cardiomyopathy Association and our commitment to providing support, education, advocacy, and advancement of research, understanding, and care to those with HCM. The tireless dedication of our volunteers gives us the extra hand needed to make our community’s healthcare experiences positive. To learn more about HCMA volunteer opportunities and get involved, click
here
.
Share Your Story (SYS)
HCMA Theme of the Month Stories
Our HCMA themes for July are “Center of Excellence Care” and “Vacationing with HCM,” featuring the story of
Elizabeth Wessman
.
If you want to share your HCM story, please email
julie@4hcm.org
to schedule an interview. Patient stories are essential to help educate and spread awareness about HCM!
HCMA Ambassador Program
In June, we held orientation workshops for our inaugural team of HCMA Ambassadors.
Each month, starting August 2023, we will spotlight one (or more!) of our HCMA Ambassadors to help further boost their social media presence. We encourage you to support our ambassadors as they create HCM awareness through the power of social media. A single “share” of an ambassador’s post can really make an impact, helping them create a more extensive following. By sharing their messages, you might help a patient get an accurate diagnosis, access to HCMA-vetted education, and support resources to help them advocate for themselves or their loved ones to receive proper care.
If you would like to share your HCM experience via social media as an HCMA Ambassador, click
here
to apply for future workshops.
Legislative Advocacy
Our fantastic summer interns are researching laws in every state related to Well-Child Examinations, AED, CPR, Pre-Participation Evaluations for athletes, and many more critical data points that are included in our proposed legislation, the Healthy Cardiac Monitoring Act (HCM Act). We will use this information to create a “Report Card” identifying how each state’s existing laws measure up compared to the HCM Act. Utilizing a state “Report Card” as a tool will help legislators understand where their state’s existing laws could improve and if critical components are missing entirely from their state laws. Our goal is to gain their support in closing the gaps necessary to find undiagnosed children and families at risk for heart conditions to avoid tragedy.
It only takes a few clicks to get the message about the HCM Act to your state legislators to help save lives. Click
here
to contact your state representatives and show your support for the HCM Act
(please, share this link with others too!!)
IMPORTANT NOTE: We are looking for volunteers to help us obtain Bill Numbers in the following states: AR, AZ, CA, CO, CN, IL, IN, IA, KY, MA, NV, NY, OH, SD, TX, and UT. If you are a resident in any of these states and want to be involved in a state-specific working group, please email me at
julie@4hcm.org
.
Free Online Patient Discussion Groups
Our online discussion group meetings are recurring, but you must register for each meeting date. Our meeting dates, times, and topics are updated regularly, so check our event calendar regularly to join a meeting (or more than one) best suited for you!
HCMA’s July 2023 Featured Discussion Group Leader: Debra Rafson
About Debra:
Debra hosts the “Life with HCM” discussion group. She was diagnosed with HCM in 2011 at age 32, after a lifetime of red flags and unexplained symptoms. The following year, she made her way to an HCMA-recognized Center of Excellence for the first time, where she found the care team she needed. In October 2016, she had a septal myectomy, mitral valve adjustment, and ICD implant at Tufts Medical Center in Boston. She currently resides in South Florida. By trade, Debra is an arts administrator, having worked as a theatrical stage manager and managing director. She hopes to transition to more work in writing and helping people with chronic illnesses navigate their medical journeys. Debra is one of the original HCMA Online Discussion Group Leaders, beginning in late 2020, and loves meeting other people with this disease and sharing our stories of “Life with HCM.”
Please remember to log your volunteer hours regularly to participate in our Volunteer GEM Awards (VGA) program and be recognized at the end of the year with fun prizes and other forms of appreciation. Click
GEM
to learn more about our HCMA Volunteer GEM Awards Program and how you can get involved.
If you have any questions about our volunteer projects, you can reach Julie Russo via email at
julie@4hcm.org
. We truly appreciate the many generous people who donate their time and talent to advocate for and support our community.
A Center of Excellence is a team of specialists who come together to provide high-quality care to patients with a specific disease using accepted best practices. It is common for medical facilities to seek COE status if they have a team working with a particular disease, such as Cancer, Diabetes, Alzheimer’s, or, of course, HCM.
The HCMA created the “HCMA Recognized Centers of Excellence” program in 2004. This program ensures that the services and procedures offered at recognized COEs align with current best practices for managing patients with HCM. Centers must use a team approach to care, including HCM specialist cardiologists, genetic counselors, imaging specialists, and more. In addition, a COE has up-to-date equipment and scanning protocols, with technicians trained to get the right angles during your testing.
The American Heart Association and the American College of Cardiologists support this model of care in their best practice guidelines for HCM, 2020.
For a list of centers, please visit our website at
https://4hcm.org/center-of-excellence/
. You can also see the criteria used in the review of these programs. We currently recognize COEs in the United States, but we can often recommend somewhere for you to go if you are in another country – please contact us for more information. The HCMA continues to grow new programs and evaluate them for COE status. We want you to have COE care near your home.
We also offer need-based travel grants to help people get the best care for HCM. Call us at 973-983-7429 and ask about the Lori Fund, or apply on our website.
https://secure.4hcm.org/forms/lori-fund-scholarship
The Lori Fund can reimburse you for gas, airfare, hotel, and food up to $600 annually to help you get to a Center of Excellence.
We recently met with a wonderful organization that supplies flights to those in need. It is a non-profit organization that can get you to an HCMA Recognized Center of Excellence.
The organization is called Angel Flights East. They are mainly in the North East but can fly up to 1,000 miles. Should your trip be longer, they will work with their partners nationwide to get you to your destination. There is a quick and simple process for approval. They have been helping patients in need for thirty years.
Some of their pilots have flown commercial airplanes and have five times more flight time relative to what the FAA requires. There are no TSA issues to deal with; they usually have clearance to land within a few miles of major hospitals.
They have added ‘ground service’ to get you from the plane to your destination. Should you need a car service, they can help.
This group is dedicated to getting you to the care you need. You deserve the best care. To contact Angel Flights East, call 973-983-7429 or go to their website at
https://angelflighteast.org/
Allegheny Health Network HCM program is the HCMA’s newest Recognized Center of Excellence. AHN is a multi-disciplinary team of cardiovascular specialists trained in diagnosing and treating hypertrophic cardiomyopathy. The AHN team will provide patients with a comprehensive assessment and conduct a diagnostic test to determine the most appropriate therapy. Team members collaborate to provide patients with coordinated care, education, and support, including but not limited to heart failure specialists, cardiac surgeons, cardiac electrophysiologists, cardiac imagine specialists, interventional cardiologists, nurses, advanced practice providers, genetic counselors, dietitians rehabilitation specialists, high-risk obstetricians, and supportive care specialists. The HCM programs offer medical therapy, interventional therapy, such as alcohol septal ablation, and surgical therapy, such as septal myectomy. AHN also offers enrollment in clinical trials investigating new therapies for HCM. Program Director Pietro Bajona, MD, Ph.D. – Cardiac Surgeon trained at the Mayo Clinic and University of Toronto HCm programs and served as Surgical Director of the HCM Program at UTSW in Dallas, TX, before starting the HCM program at Allegheny General Hospital.
Program Director/Director of Cariac Surgery- Dr. Pietro Bajona
Co-Director/Advanced Heart Failure and Transplant- Dr. Craig Alpert
Cardiac Surgery – Dr. Stephen Bailey, MD
Interventional Cardiology – Dr. David Lasorda
Interventional Cardiology – Dr. Mithun Chavarthy
Advanced Cardiac Imaging (MRI) – Dr. Victor Farah
Advanced Cardiac Imaging (Echo) – Dr. Rachel Hughes-Doichev
Cardiac Electrophysiology – Dr. George Shaw
Pediatric Cardiology – Dr. Brian Feingold (UPMC Children’s Hospital of Pittsburgh)
Nursing Team – Jennifer Keely, DNP, & Kathleen Ridgeway, RN
Genetic – Kyla Morphy
Pediatric Cardiology – Dr. Brian Feingold (UPMC Children’s Hospital of Pittsburgh)
Nutrition- Nonnie Toth
Gynecology & Family Planning – Dr. Diego Vasquez & Dr. Devon Ramaeker
Please visit for more information about Allegheny General Hosptial HCM Program – Pittsburgh, PA please visit:
https://4hcm.org/directory/
The Patient Education Committee has been busy in recent months! Some of the projects we’re working on or planning include:
Caregiver education
:
We will develop guides to help family members, and friends know when patients need help and what steps (emergency room, call the doctor, additional medications) to take if they do.
Decision making:
There are a number of other things in the hopper. We are discussing ways to use new forums and new approaches to reach people who may have HCM. And in the not-too-distant future, watch for an update on our website! We are always happy to listen to suggestions, whether big (new projects) or small (say, an error on the website).
If there is a resource that you would find helpful, please email
elena@4hcm.org
, and she will forward it to the HCMA Patient Education Committee.
The Hypertrophic Cardiomyopathy Program at the University of Maryland Heart & Vascular Center is Recognized as an HCMA Center of Excellence and the only HCMA-recognized center in the state of Maryland at this time. The University of Maryland’s team of cardiologists, cardiac surgeons, geneticists, electrophysiologists, nutritionists, and physical therapists are ready to treat you and guide you toward healthy lifestyle choices as you learn to live with this disease. An accurate diagnosis is the first step to treatment. Once we have confirmed your specific condition, The University of Maryland Team can begin tailoring your care plan. The team is currently seeing patients in Baltimore, Columbia, Owings Mills, and Westminster.
The University of Maryland team consists of the following members:
Please join the HCMA as we feature The University of Maryland HCM team for our next virtual stop of the Bighearted Warriors Unite tour on June 15th at 6:30 PM EST. Highlights are as follows: Taking care of children with HCM, One year with Mavacamten, Improving the care of atrial fibrillation in HCM & Gene therapy for HCM. Register here for this free event:
https://4hcm.org/inspire_events/bighearted-warriors-unite-featuring-university-of-maryland/
Please visit for more information about The University of Maryland – Heart & Vascular Center in Baltimore, MD please visit:
https://4hcm.org/maryland/
Share Your Story (SYS)
HCMA Theme of the Month Stories One of HCMA’s themes for the month of June is “Exercise and Balancing work/family/HCM while keeping fit (mentally and physically)” featuring the story of Michael Duddy. If you are willing to share your HCM story, please email
julie@4hcm.org
to set up an interview. Patient stories are essential to help educate and spread awareness about HCM!
HCMA Ambassador Program
We were happy to see so much interest in our HCMA Ambassador Program. With so many people willing to share their HCM experience on various forms of social media, we will reach a much broader audience to spread HCM awareness. All applicants desiring to become HCMA Ambassadors are required to attend our orientation/training workshop. This workshop will educate participants on HCMA’s guidelines for social media posting as an HCMA Ambassador and will provide tips and best practices for optimizing your social media feed. Ambassadors will learn to educate their audience using the HCMA’s repository of accurate information to ensure HCM public awareness is factual and sound. We have selected a small group of volunteers to participate in our inaugural orientation workshop. They will be encouraged to provide suggestions and feedback to ensure that future workshops are successful. After the program is successfully launched, we will be scheduling additional workshop sessions. If you would like to share your HCM experience via social media as an HCMA Ambassador, click here to apply for future workshops.
Legislative Advocacy
HCMA Legislative Intern Corner We have some new faces at the HCMA, our Summer 2023 interns! Each of our interns possesses the education, experience, and enthusiasm needed to succeed in helping us move forward with the introduction and passing of the Healthy Cardiac Monitoring Act in each state.
June 2023 featured intern: ARIANAH BELL
About Arianah:
I recently graduated from Drew University with a Bachelor’s degree in Political Science. I also plan to pursue my master’s and Juris doctorate degrees in the future, ultimately focusing on a career in non-profit work. I am an ardent supporter o community-based projects in areas involving: healthcare, reproductive rights, social justice, and education. I applied for this position at HCMA because their mission-driven work deeply aligned with my belief in working to make the world a better place and improve the lives of people. I hope to contribute to HCMA’s mission and work collectively to bring awareness to this fundamental cause.
Healthy Cardiac Monitoring Act (HCM Act)
Thank you, Ohio Representative Sara Carruthers, for agreeing to co-sponsor the HCM Act in your state! Representative Carruthers is currently working on obtaining a bill number and is assisting us with getting additional co-sponsors as the next step to passing the HCM Act into law in Ohio. It only takes a few clicks to get the message about the HCM Act to your state legislators to help save lives. Click here to contact your state representatives and show your support for the HCM Act (please, share this link with others too!!)
To view the HCM Act proposed legislation, click the following link: Health Cardiac Monitoring Act – Hypertrophic Cardiomyopathy Association (
4hcm.org
)
IMPORTANT NOTE: We are currently looking for volunteers to help us obtain Bill Numbers in the following states: AR, AZ, CA, CO, CN, IL, IN, IA, KY, MA, NV, NY, OH, SD, TX, UT. If you are a resident in any of these states and would like to be involved in a state-specific working group, please email me at
julie@4hcm.org
.
Free Online Patient Discussion Groups
Our online discussion group meetings are recurring, but you must register for each meeting date. Our meeting dates, times, and topics are updated regularly, so check our event calendar regularly to join a meeting (or more than one) best suited for you!
HCMA’s June 2023 Featured Discussion Group Leader:
PAUL PERLMAN
Paul hosts the “Pre-myectomy” education group and co-hosts the “All Things Myectomy” discussion group.
About Paul:
I am a retired lawyer from Orchard Park, NY. I was diagnosed with HCM in 2013 at the Cleveland Clinic, and received an ICD later that year. After my symptoms became more pronounced over the next three years, I had a surgical myectomy in 2016.
Since retiring in 2017, I have taught at a local college, and served on my college’s Foundation Board. For 25 years before I was diagnosed, I was a general aviation pilot. Being an online discussion group leader is important to me because one of the greatest sources of anxiety for people living with HCM is fear of the unknown. I believe that anxiety can be reduced by sharing our questions and experiences.
To view our event calendar for meeting dates and times, please click the following link: Patient Discussion Groups – Hypertrophic Cardiomyopathy Association (
4hcm.org
)
HCMA Volunteer GEM Awards Program
Please remember to log your volunteer hours regularly to participate in our Volunteer GEM Awards (VGA) program and be recognized at the end of the year with fun prizes and other forms of appreciation. Click GEM to learn more about our HCMA Volunteer GEM Awards Program and how you can get involved.
If you have any questions about our volunteer projects, you can reach Julie Russo via email at
julie@4hcm.org
. We truly appreciate the many generous people who donate their time and talent to advocate for and support our community.
There is finally more clarity about exercise for HCM patients. Some doctors say, “Don’t do anything physical,” and others say, “Do whatever you want.” We can likely agree on one thing – they’re both wrong, and the best advice is somewhere in the middle.
A
recent study
of the exercise habits of over 1500 HCM patients has shed additional light on this important topic. You can hear about the research findings and recommendations for yourself. Lisa Salberg, Dr. Rachel Lampert, and Dr. Sharlene Day discussed the study and its implications for HCM patients during a webinar on May 30th, which you watch now.
Highlights of the study:
In summary, 1660 people enrolled, of which 42% exercised vigorously. The rest of the patients either exercised moderately or were less active. Less than 5% of the total group experienced one serious cardiac event (cardiac arrest, appropriate ICD shock, syncope, or death).
Those exercising vigorously did not have a higher rate, with 4.7% of the vigorous group and 4.6% of the non-vigorous experiencing one of these events.
Participants were, in general, seeing HCM experts while participating in the study.
If you are considering changing your exercise activities, touch base with your HCM care team. You must work with experienced HCM doctors such as HCMA’s Recognized Centers of Excellence.
Fast Facts About Exercising When You Have HCM:
If you have questions about talking with your doctor regarding an exercise routine,
Linda
or
Sabrina
can assist you. Don’t hesitate to contact the HCMA with any other questions regarding your exercise plan or the resources available.
Last week, I had the privilege to moderate a panel, “Novel Nursing: Helping Patients Adapt to Medical Innovation,” on the challenges and opportunities created by Myosin Inhibitors in Hypertrophic Cardiomyopathy at the PACH Cardiovascular Health Policy Summit in Washington DC. I was joined by Sue Philpott, RN, BSN – Corewell Health in Grand Rapids, MI, and Amy Beatty Marzolf, CRNP, MSN – Hospital of the University of Pennsylvania, who are impressive and articulate.
At the summit, I also met Scott Barrokas, a member of the HCMA Legislative Committee, who attended the Summit to learn more about patient advocacy in a legislative setting through sharing experiences and stories. It was a great experience as we can all learn to improve patient care and outcomes by sharing our experiences and providing a voice to patient needs. As a member and employee of the
Hypertrophic Cardiomyopathy Association
, I hear these stories daily, but many of our legislators don’t, and sharing is caring.
Vigorous Exercise in Patients With Hypertrophic Cardiomyopathy – JAMA Cardiology | Original Investigation
Exercise has well-established physical and mental health benefits and is an integral part of life for millions of people worldwide. However, for individuals with hypertrophic cardiomyopathy (HCM), the possibility that physical activity may heighten the risk of sudden cardiac death (SCD) has led to exercise restriction and disqualification from competitive sports.
HCM is defined by unexplained left ventricular hypertrophy (LVH) and has a worldwide prevalence of approximately 1 in 500 individuals.1 It is the most common genetic cardiomyopathy and is inherited as a mendelian trait in approximately 50% of patients, predominantly due to pathogenic variants in genes that encode sarcomeric proteins. In others, it is expressed as a complex trait with contributions from both polygenic and acquired factors. Some patients with HCM may experience symptoms of heart failure and atrial and/or ventricular arrhythmias, whereas others have normal longevity and good quality of life.
Results of this cohort study suggest that among individuals with HCM or those who are genotype positive/phenotype negative and are treated in experienced centers, those exercising vigorously did not experience a higher rate of death or life-threatening arrhythmias than those exercising moderately or those who were sedentary. These data may inform discussion between the patient and their expert clinician around exercise participation.
Rachel Lampert, MD; Michael J. Ackerman, MD, PhD; Bradley S. Marino, MD; Matthew Burg, PhD;
Barbara Ainsworth, PhD, MPH; Lisa Salberg; Maria Teresa Tome Esteban, MD, PhD; Carolyn Y. Ho, MD;
Roselle Abraham, MD; Seshadri Balaji, MBBS, PhD; Cheryl Barth, BS; Charles I. Berul, MD; Martijn Bos, MD;
David Cannom, MD; Lubna Choudhury, MD; Maryann Concannon, MSW; Robert Cooper, MD;
Richard J. Czosek, MD; Anne M. Dubin, MD; James Dziura, PhD; Benjamin Eidem, MD; Michael S. Emery, MD;
N. A. Mark Estes, MD; Susan P. Etheridge, MD; Jeffrey B. Geske, MD; Belinda Gray, MBBS, PhD; Kevin Hall, MD;
Kimberly G. Harmon, MD; Cynthia A. James, PhD; Ashwin K. Lal, MD; Ian H. Law, MD; Fangyong Li, MS;
Mark S. Link, MD; William J. McKenna, MD; Silvana Molossi, MD, PhD; Brian Olshansky, MD;
Steven R. Ommen, MD; Elizabeth V. Saarel, MD; Sara Saberi, MD, MS; Laura Simone, MS; Gordon Tomaselli, MD;
James S. Ware, MD; Douglas P. Zipes, MD; Sharlene M. Day, MD; for the LIVE Consortium
The University of Colorado is one of our newest HCMA Recognized Centers of Excellence. The UCHealth Team is honored to be recognized and work in partnership with the HCMA to genuinely provide the highest standard of care for patients with Hypertrophic Cardiomyopathy. The mission of the University of Colorado’s HCM Program is to improve the lives of patients with HCM by providing first-class medical care to patients and their families, by educating others and increasing the awareness of HCM, and by participating in innovative research to advance the field. The UC Health Team provides multidisciplinary care across the spectrum of the disease, with all adult specialists in a single location and pediatric specialists on an adjacent campus. The program’s values are patients first, integrity, and excellence.
The University of Colorado team consists of the following members:
David Raymer MD and Edward Gill MD as Co-directors
Co-Director Edward Gill says, “With regard to scientific advancements, we anticipate participating in a number of clinical trials regarding HCM drugs in patients.
The breakthrough myosin inhibitor, Mavacamten, was developed at the University of Colorado at the Cardiovascular Institute at CU Boulder under Leslie Leinwand, Ph.D. Also, Dr. Mestroni has just recently learned of funding of her NIH RO1 grant that deals specifically with cardiac genetics.”
Please join HCMA as we feature The University of Colorado HCM team for our next virtual stop of the Bighearted Warriors Unite tour on May 23 at 8:30 PM EST. Highlights are as follows: Introductions to the UCHealth team, Comprehensive HCM Center Care, HCM Echocardiography: A Primer for Patients, Kids are Not Little Adults: Unique Issues Affecting Children with HCM, & A Look into the Future: Artificial Intelligence & Gene Therapy for HCM. Register here for this free event:
https://4hcm.org/inspire_events/bighearted-warriors-unite-featuring-university-of-colorado-hospital/
Volunteers significantly contribute to the success of the Hypertrophic Cardiomyopathy
Association and our commitment to providing support, education, advocacy, and
advancement of research, understanding, and care to those with HCM. Our volunteer’s
tireless dedication gives an extra hand needed to make our communities healthcare
experiences positive. To learn more about HCMA volunteer opportunities and get
involved, click here.
HCMA Volunteer GEM Awards Program
Please remember to log your volunteer hours regularly to participate in our Volunteer
GEM Awards (VGA) program and be recognized at the end of the year with fun prizes
and other forms of appreciation. Click
GEM
to learn more about our HCMA Volunteer
GEM Awards Program and how you can get involved.
Share Your Story (SYS)
HCMA Theme of the Month Stories
One of HCMA’s themes for the month of May is Medical Management: what’s New,
what’s old and what works,” featuring the story of Joseph Caruso.
If you want to share your HCM story, please email
julie@4hcm.org
to schedule an
interview. Patient stories are essential to help educate and spread awareness about
HCM!
HCMA Ambassador Program
We are reviewing the applications we have received for our HCMA Ambassador
Program’s inaugural class of 2023. Selected candidates will participate in a workshop
designed to develop best practices for optimizing your social media feed to raise
awareness of HCM through storytelling on various social medial platforms. They will
learn to educate their audience using the HCMAs repository of accurate information to
ensure HCM public awareness is factual and sound. To apply to share your HCM
experience via social media as an HCMA Ambassador,
click here
.
Legislative Advocacy
We have some new faces at the HCMA, our Summer 2023 interns! Each of our interns
possess the education, experience, and enthusiasm needed to succeed in helping us
move forward with the introduction and passing of the Healthy Cardiac Monitoring Act in
each state.
Healthy Cardiac Monitoring Act (HCM Act)
Our interns and volunteers have been working hard to set appointments and meet with
legislators in Ohio and Connecticut. They aim to gain support and obtain a bill
number as the next step to passing the HCM Act into law in these states. You can help
us introduce the HCM Act in your state right now! It only takes a few clicks to get the
message about the HCM Act to your state legislators to help save lives.
Click here
to
contact your state representatives and show your support for the HCM Act (please,
share this link with others too!!)
To view the HCM Act proposed legislation, click the following link: Health Cardiac Monitoring Act – Hypertrophic Cardiomyopathy Association (
4hcm.org
)
HCM Awareness Day Resolution/Proclamation:
The HCMA and Bristol Myers Squibb have partnered for a legislative initiative to designate the fourth Wednesday in February each year as Hypertrophic Cardiomyopathy Awareness Day in every state.
These resolutions/proclamations will support our efforts to educate people about
hypertrophic cardiomyopathy.
**State by state, as we progress with these efforts, we will reach out to our
volunteers to help champion these efforts in their home state.
If you want to volunteer for our legislative advocacy group, click the link:
https://bit.ly/3DNBKJI
. Under Elizabeth T. McNamee, LEGISLATIVE ADVOCACY VOLUNTEER GROUP
Free Online Patient Discussion Groups
Our online discussion group meetings are recurring, but you must register for each
meeting date. Our meeting dates, times, and topics are updated regularly, so check our
event calendar regularly to join a meeting (or more than one) best suited for you!
UPDATE: Our “Newly Diagnosed/New to the HCMA” online education sessions will now
be held three times monthly, at various times, for even more opportunities to join a
meeting.
To view our event calendar for meeting dates and times, please click the following link:
Patient Discussion Groups – Hypertrophic Cardiomyopathy Association (
4hcm.org
)
If you have any questions about our volunteer projects, you can reach Julie Russo via
email at
julie@4hcm.org
. We truly appreciate the generous people who donate
their time and talent to advocate for and support our community.
May is about medical management here at the HCMA. Medical management means using medications and other non-invasive therapies to treat disease and relieve symptoms. It’s exciting that new treatments for HCM are being studied and that the FDA approved Camzyos last year! It is historic for treatments to be targeted for HCM.
HCM can cause various symptoms depending on how stiff the heart is, how much scarring there is, and whether there is obstruction. Some people have no noticeable symptoms. Symptoms of HCM may include chest pain/pressure, shortness of breath, lightheadedness, fatigue, palpitations, syncope (fainting)/near-syncope, and brain fog.
Medications are the first-line treatment for symptoms of HCM. Here are some medications used to treat HCM and what they’re used for:
To learn more and see the side effects of these medications, click
HERE
.
Between 1 in 250 to 1 in 500 people are impacted by Hypertrophic Cardiomyopathy, a genetic heart condition that took the life of Lisa Salberg’s sister. Lisa, her daughter and many other family members live with this condition. That’s why she’s dedicated her life to advocacy.
“Heart disease has always been a heavy weight on my shoulders, but I never anticipated the role I would play in supporting others who were also affected. As the founder of the Hypertrophic Cardiomyopathy Association (HCMA), I’ve dedicated my life to spreading awareness of hypertrophic cardiomyopathy (HCM), the heart muscle disease that causes the muscle to become thick and unable to pump blood normally. It’s the most common of all genetic heart conditions, but throughout my life, I saw the lack of education and resources surrounding the disease firsthand. That’s why I knew I needed to make a change.
At age 12, I was diagnosed with hypertrophic cardiomyopathy when little to no information was available surrounding this disease. Several of my family members struggled with heart-related issues; others were also diagnosed with HCM. With constant hospital visits, medical treatments, and a stroke at 21, I struggled to find control over this disease for the majority of my life.
My life took a turn in 1995 when my sister, Lori Anne Flanigan-Munson, passed away at 36 from medical errors and complications related to HCM and overall mismanagement of the disease. Her death was something that should have never happened and could have been prevented with the right guidance and information.
Because of the untimely passing of my sister, I decided to take control of my condition and help others in similar positions. After the losses I experienced, I felt called to do something so others wouldn’t have to go through the same. I decided to start a website that could provide information to others with much-needed information, support and advocacy.
We were excited to announce on HCM Awareness Day 2023 our new partnership with Nest Genomics, a provider of services that helps educate patients to achieve the best outcomes in care and shared decision-making. As the HCMA grows, we must find new ways to provide personal attention and scale up to the larger community we are serving. One of my personal challenges has been how to communicate effectively on topics that are critical to the patient journey experience, including why tests are needed, where they can be done most effectively, what these tests and procedures are, and provide these and other important items in a place you can revisit them later. Additionally, we wanted to create a way to update records effectively to prepare for navigation calls as well as provide updates on frequently asked questions, quick updates of changes in care guidelines, or educating people with new opportunities.
Nest is the KEY!
Here is an interview I had during HCM Awareness Day with Moran Snir, the founder/CEO of Nest Genomics. We review our goal for the Nest portal and how we work together.
I hope you are as excited about this new tool in our toolbox to help support you and the HCM community. Together, we can make things better for the diagnosed, find the undiagnosed, help with new treatment options, and learn together to save lives.
We are rolling it out in stages, so please be patient as we launch, but when we reach you, please don’t let our invitation to participate sit too long. We need to help over 10,000 people have their turn to join us in the HCMA Nest Portal. If you have questions, don’t hesitate to get in touch with our office: pm@4hcm.org
Many HCM patients have issues with
metoprolol, the beta-blocker
most widely prescribed for HCM. There may be multiple reasons for this, but a key one has been known for some time: many generic formulations of metoprolol succinate have time-release mechanisms that do not work in a similar fashion to the brand-name Toprol XL.
Consequences
The result is that patients receive doses that are not equivalent to what was prescribed. Some develop symptoms as a result.
A good summary of the problem
A new
blog post
by pharmacologist Joe Graedon on The People’s Pharmacy blog describes the problem well.
Causes
The HCMA has been aware of this problem for quite some time. It’s caused by lax oversight of generic drugs by the FDA, especially those manufactured in other countries.
How patients can protect themselves
What can HCM patients do? Dr. Lever emphasizes:
Further information
You can find useful information in our video library, especially in these interviews:
Today I should be calling my sister and signing… “when I’m 64”, but instead, I will remember the beautiful soul we lost when she was only 36.
Yesterday I went to see the new movie “A Man called Otto”, in this movie, Tom Hanks character Otto has HCM. I haven’t been to the movies much, but I needed to see how the subject was addressed. I did this on the eve of what should have been my sister’s birthday.
I have had HCM since 12 and lost 5 close relatives or more to HCM, and I found Tom Hanks performance 100% accurate, authentic, and raw reality.
At the end of the movie, which I purposely went to alone, I sat in a dark theater as the credits ran and cried (I’m not a crier). Not only was the depiction of HCM so real, but it also reminded me of the countless number of HCM warriors I’ve had the honor and privilege of knowing, supporting, advocating for, and loving since we lost Lori. The movie was the first time I had seen my family (bio and community) so accurately depicted. It touched my soul. Thank you, Mr. Hanks for being remarkable at your craft.
Commotio Cordis
appears to have occurred at the Bill’s game, Monday, January 2, 2023, with the collapse of Damar Hamlin. If you don’t know what this is… sudden cardiac arrest occurs after a chest blow. While uncommon, it speaks to the need for AEDs on all playing fields. The HCMA shares in the hopes for a positive outcome for this young man.
Sudden Cardiac arrest occurs out of the hospital nearly 1000 times a day from many different root causes.
Are you prepared to respond at home, at work, at the gym, or during a game? AEDs and well-done CPR can be all the difference between life and death. Create an action plan today.
Download the Dr. Drill kit here
.
I’m proud of all the researchers, clinical experts, advocates, patient safety experts, and all my heart warriors who have helped advance the science and change public policy to prepare to respond to sudden cardiac arrest. We never know when it will occur; however, prompt use after CPR and an Automatic External Defibrillator AED can significantly improve survival.
These situations can bring back very traumatic memories for families who have had personal experiences with sudden cardiac arrest. Let’s hope that all the preparation, planning, practice, and persistence will pay off for this young man… and the others who will not capture the public’s attention.
Learn more about putting together a plan for your team using the Dr. Heart Drill to prepare
for cardiac arrest response
Here are the basics of the “Dr. Heart” drill. Know the chain of survival and YOUR part in it:
● Early Access to the patient, including early recognition of the condition and call for
help. Chance of survival increases by 5%
● Early Basic Life Support (Rescue Breathing and External Chest Compressions), Chance
of survival increases by 10%
● Early Defibrillation (An electric shock to restart the heart) Chance of survival increases
by 75%
● Early Advanced Life Support (Drug therapies to maintain condition)
We’ve all had the experience: holidays can mean eating too much (much of which isn’t good for you), drinking too much, and getting no exercise. It doesn’t have to be like that!
A
new article
in
Cardiology Magazine
(published by the American College of Cardiologists) suggests a strategy for heart-healthy holidays. There are strategies for modifying recipes to make them more healthy, scheduling your exercise to make sure you do it, and more. There are even a couple of recipes included.
Give it a read
!
Learning that you have a serious chronic disease can be stressful. Now a
group of researchers in Korea provide evidence
(Park et al. 2022) that mental health problems can be an important consequence of diagnosis with HCM.
Methods
The research team was led by Hyung-Kwan Kim of Seoul National University. These scientists
compared
the risk of mental health disorders in newly-diagnosed HCM patients with people who had not been diagnosed with HCM. They used National Health Insurance Service records to identify more than 4,000 HCM patients and more than 12,000 controls. Kim et al. used a technique called propensity scoring to find a group of controls with similar characteristics for a range of social, medical, and lab test results. Then they compared the numbers of patients in the two groups who developed mood, anxiety, stress-related, or sleep disorders.
Results
In the first month after diagnosis, HCM patients were 3.07 times more likely to be diagnosed with at least one mental health issue. This increased risk of new mental health diagnoses declined over time: the hazard ratio was 2.3 over the first 1-12 months, 2.09 over years 1-3, and 1.3 for greater than 3 years.
Further study needed
Are these mental health disorders transient? How much do they impact patients’ lives? Further research is needed to clarify this issue.
Mental health component of HCM programs
Mental health issues appear to occur more frequently in HCM patients after diagnosis. This suggests that HCM centers and individual cardiologists need to be aware of mental health issues, screening patients and referring them as appropriate. One resource in the USA is provided by the
Department of Health and Human Services.
The HCMA is working toward building better resources both within HCMA-recognized Centers of Excellence and within the HCMA’s internal service model to help meet the mental health challenges that come with HCM.
HCM patients commonly suffer from
diastolic dysfunction
(also called heart failure with preserved ejection fraction (HFpEF), or left-sided heart failure): their hearts do not fill adequately. As a result, even after septal reduction therapy (SRT:
myectomy
or
alcohol septal ablation
), some patients are quite symptomatic. Can
mavacamten (Camzyos)
help relieve their symptoms? Now a study (
Cremer et al. 2022
) provides results on how mavacamten affects diastolic dysfunction among patients who have been referred for SRT.
Study design and goals
Researchers randomly assigned patients already on maximal doses of drugs like
beta blockers
or
verapamil
to either mavacamten or a placebo. These patients underwent both
resting
and
stress
echocardiograms, allowing the researchers to measure
diastolic
function. The researchers repeated the echos after 16 weeks. They asked several questions: How much did the patients’ diastolic function change? Which parameters from the echos related to changes in diastolic function? What proportion of patients improved in their grade of diastolic dysfunction?
Results
Fifteen of 51 patients (29%) receiving mavacamten showed improvement in their diastolic dysfunction grade. By contrast, 6 of 47 (13%) of patients in the placebo group improved. Thus mavacamten may have some efficacy in treating diastolic dysfunction. These improvements related to reductions in the E/e’ ratio (an index of the rate of filling in the left ventricle), and to the volume of the left atrium (LAVi) relative to body size. Importantly, the improvements did not depend on changes in the patients’ gradients or their mitral regurgitation.
Looking forward
The improvement in diastolic dysfunction grade is encouraging, suggesting new therapeutic approaches. However, the fact that improvement occurred in fewer than a third of the patients suggests that there is still much to be done in finding more effective treatments.
Literature cited
Cremer, P.C., Geske, J.B., Owens, A., Jaber, W.A., Harb, S.C., Saberi, S., Wang, A., Sherrid, M., Naidu, S.S., Schaff, H.V. and Smedira, N.G., 2022. Myosin Inhibition and Left Ventricular Diastolic Function in Patients with Obstructive Hypertrophic Cardiomyopathy Referred for Septal Reduction Therapy: Insights from the VALOR-HCM Study.
Circulation: Cardiovascular Imaging
.
doi.org/10.1161/CIRCIMAGING.122.014986
An expert panel of HCM clinicians and researchers has published (
Brignole et al. 2022
) a set of guidelines for diagnosing the causes of syncope (fainting) in HCM patients, and for treatment if indicated.
Fainting is fairly common among HCM patients (about 15%,
Mascia et al. 2022
), but its causes are usually unknown. Indeed, it is often assumed to be caused by arrhythmias, and used to make decisions about implanting
ICDs
. As there are many other things that can cause syncope, though, this can lead to inappropriate ICD implantation, as well as to failing to understand and treat the real cause of the syncope.
Causes of syncope
Most syncope (about 91%) among HCM patients appears to be unexplained, according to an earlier meta-analysis by the same panel (
Mascia et al. 2022
). In addition to ventricular arrhythmias that can be prevented or aborted by ICDs, there are many other cardiac causes of fainting. There are also multiple causes of syncope that are neural in origin, as well as conditions that mimic syncope. Distinguishing among these is quite valuable clinically.
The recommended workup for HCM patients with syncope is
Mascia, G., Crotti, L., Groppelli, A., Canepa, M., Merlo Andrea, C., Benenati, S.,
et al.
Syncope in hypertrophic cardiomyopathy (part I): an updated systematic review and meta-analysis. 2022. Int. J. Cardiol., S973-983-7429,
10.1016/j.ijcard.2022.03.028
Brignole, M., Cecchi, F., Anastasakis, A., Crotti, L., Deharo, J.C., Elliott, P.M., Fedorowski, A., Kaski, J.P., Limongelli, G., Maron, M.S. and Olivotto, I., 2022. Syncope in hypertrophic cardiomyopathy (part II): An expert consensus statement on the diagnosis and management.
International Journal of Cardiology
.
10.1016/j.ijcard.2022.10.153
We understand how challenging it can be to manage life with HCM, and we want to lend a hand.
As such, this is the first in a series of short articles to help to get you started concerning
issues such as a 504 plan for your child’s school. Other examples are, what qualifies you for
Social Security Disability Insurance benefits, or what you are entitled to as far as the Family
Medical Leave Act (FMLA). As always, if you have any questions, please contact the office at
(973) 983-7429.
Sample 504 Plan for HCM
As a school official, I will assume that you are aware of 504 plans which come from Section 504
of the Rehabilitation Act of 1973. In summary, a 504 plan includes accommodations that
promote student success academically and behaviorally in the classroom. Hypertrophic
Cardiomyopathy (HCM) meets the criteria for a disability under this law, and therefore, the
student is eligible for accommodations. (1)
HCM is the second most common form of heart muscle disease affecting children and
adolescents and is a leading cause of sudden death in young athletes. The cause of HCM
varied in children. However, most cases of HCM in childhood are caused by changes in cardiac
(heart) protein genes. (2)
The diagnosis of HCM in infants is often made during a check for a heart murmur or heart
failure. Older children are usually referred for symptoms, such as abnormal ECGs, and
echocardiograms. Sometimes it may be that a child is found to have HCM after being screened
after a relative was diagnosed. (3)
● Allow the child to have and fill water bottles as needed. A lack of water can
result in serious cardiac issues.
● Ensure automated external defibrillator(s) are available and operational to quickly
get to a child who is having an event. Depending on the size and layout of your
school, multiple units might be necessary.
● Put plans in place to allow someone to start CPR until the defibrillator is
retrieved. Having this plan in place will allow lifesaving efforts to start with no lag
time for getting the defibrillator.
● Consider implementing ‘Hands-only CPR in Schools Training’ and defibrillator
training too if applicable.
● Allow the child to take part in physical education classes, but modify the activity
level, thereby allowing her/him to be active but not stressed or isolated from their
peers.
● Allow more time to take tests, particularly standardized tests as some of their
medication can cause dizziness, weakness, drowsiness, or fatigue. For
example,
● Allow more time for HCM children to get from one classroom to another. The
increased time will depend on how big your school is and how congested the
halls are between classes.
Having our HCM children well hydrated, granting a few needed allowances, and implementing
the appropriate equipment and training, will help ensure we are keeping our children safe.
With these minor revisions and requests, we can save lives- very young lives. Some schools
may already have invested in this equipment and training. Find out if your child’s school is one
of them. By having these devices on-site, students, faculty, maintenance workers, and visitors
will all have a better chance of surviving a cardiac event.
What’s the status of septal
myectomy
today? A recent review paper by an Expert Panel for the American Journal of Cardiology (
Maron et al. 2022
) concludes that “Surgical myectomy remains the time-honored primary treatment for hypertrophic cardiomyopathy patients with drug refractory limiting symptoms due to LV outflow obstruction.”
One of the safest of heart procedures
Septal
myectomy
– especially at high-volume centers – is one of the safest of heart procedures, and has a strong record of safely improving patient’s symptoms of heart failure. The authors review
alternatives
– useful especially in those who are poor surgical candidates – and drug treatments. Myectomy is used in those who are unresponsive to drug therapy.
What about myosin inhibitors?
Does the emergence of the new myosin-inhibiting drugs (
Camzyos
, and others being tested) change this? No, the authors conclude. There will continue to be patients who will not respond to these drugs, or who cannot handle their considerable financial burden. Nor is it yet known whether myosin inhibitors will succeed as lifelong treatments; they may turn out to often be most useful in helping patients delay myectomy.
Conclusion
The authors emphasize that “As new medical initiatives emerge, it is particularly important to underscore the effectiveness of septal myectomy in the State-of-the-Art management of severely symptomatic obstructive HCM patients, careful to avoid delay or under-utilization of operative intervention.”
Literature cited
Maron, B. J., Dearani, J. A., Smedira, N. G., Schaff, H. V., Wang, S., Rastegar, H., Ralph-Edwards, A., Ferrazzi, P., Swistel, D., Shemin, R. J., Quintana, E., Bannon, P. G., Shekar, P. S., Desai, M., Roberts, W. C., Lever, H. M., Adler, A., Rakowski, H., Spirito, P., Nishimura, R. A., Ommen, S. R., Sherrid, M. V., Rowin, E. J., and Maron, M. S. 2022. Ventricular Septal Myectomy for Obstructive Hypertrophic Cardiomyopathy (Analysis Spanning 60 Years Of Practice): AJC Expert Panel.
The American Journal of Cardiology 180:
124–139.
https://doi.org/10.1016/j.amjcard.2022.06.007
We hear many different claims about what HCM patients (or heart patients in general) should or shouldn’t eat and drink. This is a big topic, and for much of it, the science doesn’t have simple answers – at least not yet. But it turns out that there are some answers for three things that many people like (and many people won’t touch): wine, chocolate, and coffee.
Dr. Thomas Lüscher is a highly respected cardiologist in London and Zurich. He was editor of the
European Heart Journal
for over 10 years. He and his coworkers reviewed this topic (
Lüscher 2021
) by reading over 3200 published research papers on the effects of wine, chocolate, and coffee on the heart. Their conclusions are for hearts in general and not specific to HCM, but their conclusions are sound and apply to HCM hearts as well.
Alcohol
It’s well known that alcohol isn’t good for hearts. It tends to increase blood pressure. It makes palpitations more likely. It promotes weight gain. And so on. A few years ago, an influential study (
Leong et al. 2014
) seemed to show that up to 4 or 5 drinks per week had a small protective effect in terms of stroke and heart attack. More careful studies (
Millwood et al. 2019
) that controlled for genetic factors concluded that there is no protective effect. Lüscher’s conclusion: “wine is truly a joy, but at best neutral when consumed in moderation.”
Chocolate
Research shows that dark, bitter chocolate does have a protective effect on the cardiovascular system. Importantly, other chocolates – especially milk chocolate – don’t have that effect. And milk chocolate comes with plenty of fat and sugar. Lüscher’s conclusion: “Chocolate is a joy for our CV system, if consumed in dark, bitter form.”
Coffee
Coffee contains stimulants, so we sometimes hear people insist that it must be avoided by heart patients. The research doesn’t support this in general. People who drink coffee regularly have a much smaller response to the stimulant. Those who drink 4 cups per day or fewer have a reduced risk of heart failure. Coffee also has a protective effect against Type II diabetes and against mortality from many causes (other than cancer). Lüscher’s conclusion: “It wakes us up, less so if you drink it regularly, and at that dose of up to 4 cups a day, might even be protective.”
Parting advice
Of course, if your doctor recommends avoiding coffee or dark, bitter chocolate, you should. If you don’t like them (or don’t like the way you react to them), by all means, avoid them! But there is no evidence that heart patients generally should avoid them, and they may even be good for you. That glass of wine? There isn’t any evidence that it’s protective, and we know that alcohol can cause us problems. It’s your choice, but if you do have some, don’t have much!
Literature cited
Leong, D. P., A. Smyth, K. K. Teo, M. McKee, S. Rangarajan, P. Pais, L. Liu, S. S. Anand, and S. Yusuf. 2014. Patterns of alcohol consumption and myocardial infarction risk: observations from 52 countries in the INTERHEART case-control study.
Circulation
130: 390–398.
Lüscher, T. F. 2001. Wine, chocolate, and coffee: forbidden joys?
European Heart Journal
42: 4520-4522.
Millwood, I. Y., R. G. Walters, X. W. Mei, Y. Guo, L. Yang, Z. Bian, D. A. Bennett, Y. Chen, C. . Dong, R. Hu, G. Zhou, B. Yu, W. Jia, S. Parish, R. Clarke, G. Davey Smith, R. Collins, M. V. Holmes, L. Li, R. Peto, and Z. Chen. 2019. Conventional and genetic evidence on alcohol and vascular disease aetiology: a prospective study of 500000 men and women in China.
Lancet
393: 1831–1842.
Doctors usually classify patients’ heart failure according to the severity of their symptoms. The table below describes the most commonly used classification system, the New York Heart Association (NYHA) Functional Classification
1
. It places patients in one of four categories based on how much they are limited during physical activity. In the HCM community, this NYHA class system is less than ideal as patients may vary in class in a short period of time and not maintain a fixed NYHA Class, but rather experience what we at the HCMA describe as “Good Day/Bad Day syndrome”. If you are asked in what class you are categorized you will understand it is based on observation.
For Example:
1
Adapted from Dolgin M, Association NYH, Fox AC, Gorlin R, Levin RI, New York Heart Association. Criteria Committee. Nomenclature and criteria for diagnosis of diseases of the heart and great vessels. 9th ed. Boston, MA: Lippincott Williams and Wilkins; March 1, 1994.
Original source: Criteria Committee, New York Heart Association, Inc. Diseases of the Heart and Blood Vessels. Nomenclature and Criteria for diagnosis, 6th edition Boston, Little, Brown and Co. 1964, p 114.
Septal reduction therapy (SRT), surgical myectomy, or alcohol ablation, is recommended for obstructive hypertrophic cardiomyopathy (oHCM) patients with intractable symptoms despite maximal medical therapy but is associated with morbidity and mortality.
OBJECTIVES
This study sought to determine whether the oral myosin inhibitor mavacamten enables patients to improve sufficiently to no longer meet guideline criteria or choose to not undergo SRT.
METHODS
Patients with left ventricular (LV) outflow tract (LVOT) gradient$50 mm Hg at rest/provocation who met guideline criteria for SRT were randomized, double-blind, to mavacamten, 5 mg daily, or placebo, titrated up to 15 mg based on LVOT gradient and LV ejection fraction. The primary endpoint was the composite of the proportion of patients proceeding with SRT or who remained guideline-eligible after 16 weeks of treatment.
RESULTS
One hundred and twelve oHCM patients were enrolled, mean age 60 12 years, 51% men, 93% New YorkHeart Association (NYHA) functional class III/IV, with a mean post-exercise LVOT gradient of 84 35.8 mm Hg. After 16 weeks, 43 of 56 placebo patients (76.8%) and 10 of 56 mavacamten patients (17.9%) met guideline criteria or underwent SRT, difference (58.9%; 95% CI: 44.0%-73.9%;P<0.001). Hierarchical testing of secondary outcomes showed significant differences (P<0.001) favoring mavacamten, mean differences in post-exercise peak LVOT gradient 37.2 mm Hg;$1 NYHA functional class improvement 41.1%; improvement in patient-reported outcome 9.4points; and NT-proBNP and cardiac troponin I between-groups geometric mean ratio 0.33 and 0.53.
CONCLUSIONS
In oHCM patients with intractable symptoms, mavacamten significantly reduced the fraction of patients meeting guideline criteria for SRT after 16 weeks. Long-term freedom from SRT remains to be determined.
(A Study to Evaluate Mavacamten in Adults With Symptomatic Obstructive HCM Who Are Eligible for Septal ReductionTherapy [VALOR-HCM];NCT04349072)
Kimberly A. Holst and her collaborators (2022) examined nearly 6,000 US myectomies reported from 2012 to 2019. Their data came from a database compiled by the
Society of Thoracic Surgeons
.
Mortality and post-operative risks lowest in high-volume centers
The researchers found that the chance of death was lowest in hospitals that performed more of the surgeries. But they also found that the risk of serious complications was much lower in these hospitals. The complications they studied included perforation of the interventricular septum and complete heart block.
Furthermore, those high-volume hospitals
replaced mitral valves
less often as part of the procedure.
Myectomy is safest in high-volume centers
These results strengthen the conclusions suggested by
Kim et al. (2016)
, that septal myectomy is safest at high-volume centers.
Literature cited
Holst, K. A., H. V. Schaff, N. G. Smedira, E. B. Habermann, C. N. Day, V. Badhwar, H. Takayama, P. M. McCarthy, and J. A. Dearani. 2022. Impact of Hospital Volume on Outcomes of Septal Myectomy for Hypertrophic Cardiomyopathy.
The Annals of Thoracic Surgery
, in press.
Kim, L. K., R. V. Swaminathan, P. Looser, R. M. Minutello, S. C. Wong, G. Bergman, S. S. Naidu, C. L. F. Gade, K. Charitakis, H. S. Singh, and D. N. Feldman. 2016. Hospital volume outcomes after septal myectomy and alcohol septal ablation for treatment of obstructive hypertrophic cardiomyopathy: US nationwide inpatient database, 2003-2011. J
AMA Cardiology
1:324–332.
Can we talk about grief for a moment? We all experience loss, and each loss impacts us differently. There is no rule book for processing grief, and that’s a beautiful thing – processing grief is unique to the individual it happens to. Grief is defined as a specific type of suffering that is often tied to loss. Grief is healthy to process, and I believe it is essential to discuss.
I have lost many loved ones, starting at a young age. At six, it was my maternal grandmother; at seven, my maternal grandfather, a dear great uncle at 16, an uncle at 21, a sister at 26, and many other family members and dear friends; many were like family. My parents were both gone by the time I was 46.
It is June 15, 2022, when I am writing this; tomorrow will be 27 years since my sister’s death. Each year the memories of the events of June 12, 1995, the day of the cardiac arrest, through the next 30 days mess with my soul. I find my thoughts distracted, am melancholy, and out of nowhere, there are tracks on my face as memories turn into tears of all that was lost and all that never was.
I am sure this is a form of PTSD, and I have tried to work through this for years, and while it is easier every year, there always seems to be a new twist. Life moves on, and my sister was supposed to be here with me going through all of it, the good, the bad, the sad, the joyful, the silly, the petty, the everyday life, all of it, and she is not.
Dates trigger many people; in this, I know I am not alone. This year the new areas that have impacted my grief are the new grandchild my sister should be with, and the reality is that this new wonderful little boy will never know his grandmother. The next issue is that my daughter is the age I was when my sister died; she was born a month later and never knew her aunt Lori. Looking at my daughter and thinking I was her age when we pursued custody of my niece and nephew – I was 26. OMG, I was only 26 years old. A few months later my life would take turns in my personal life, my work life, and my relationship with friends – EVERYTHING changed – like it or not, it changed forever.
This point was somehow lost on me all these years; I was only 26. When other late 20-somethings were my age, they were out partying, traveling, or starting their own families – BAM, I was in a whole new space and one I had never seen anyone manage before. I found no support, no resources, and no online community to gain input from, it was just “figure it out.” The reality that NOBODY created a system of support for families like mine was at the core of starting the HCMA. So yes, the HCMA was born from grief – and I see that as a positive thing. Grief brought positive change. I have to be honest and say it was not all good change.
My family changed. We lost contact with her step-children, who were very dear to us. We navigated new custody agreements, new schools, new conversations with doctors, new family dynamics, and so many other shifts in normalcy – it was the “After Lori Normal.” I still see the world “with Lori” and “After Lori.”
My friends – well, there wasn’t much time for that. I grieve the loss of connection and the time let fade without a call, getting together, group vacations, and all the fun things you do with your friends as adults. There was no time left in the day for a social life. There were three children then at 13, 11, and newborn. I would not change for a moment the time we spent together, the new family we created from the broken pieces. Did I do everything right – oh, hell no, I am sure I made a ton of mistakes. I hope they now understand how we tried to be “normal” in an” abnormal situation
But then, if I see the HCMA as a positive, how do I hurt so much each year when I think of what our family lost that day in 1995? I think it is partly because I believe Lori would have been a fantastic partner in building the HCMA and servicing this community. In April 1995, we began talking about starting a support group, so the idea had already come to life. I wish my sister were here to see how much things have changed in 27 years. I also know that each year at this time, I think of all the other families around the world that have experienced loss from HCM, and my heart and soul hurt for each of them.
My grief this year is processing a bit differently than it has in the past. Maybe it’s the number 27 – I lost an aunt at 27, I turned 27 the summer Lori died, and my daughter will be 27 in a few days. Maybe I see myself in my daughter’s young 27-year-old face and wonder how the hell did I survive, did my marriage survive, did the kids thrive, did my parents manage the loss, and how did something as beautiful as the HCMA come out of such a fucking disaster.
Grief brings so many things, and I now see it as an evolution. Maybe we process little bits of grief when we are ready, and perhaps it takes a year, a decade, or a lifetime to process it all. When I grieve my sister’s death, it is more than just the grief of her loss; it is grief for all the things that changed without our consent or approval – life just happened, and we were forced to make it work. I used the word PIVOT a lot in the office, and I am great at a PIVOT. What is a PIVOT to me? Plan A is no longer viable; try plan B – won’t fit, pull out Plan D. The moral really is to always think of plan B, C, and D when planning anything and KNOW your options.
The definition of “audacity” is a wiliness to take bold risks. I took a risk of putting my grief to work to bring about the change in the world that I believe would have provided my sister with the chance for a future. Lori is gone, and so are many others, too soon, and with your help, we can ensure no other is lost to HCM when care is within reach. We continue to learn about HCM, the patient journey, and the science evolves, as does our understanding. I have the AUDACITY to believe the future can be better and that suffering is not a requirement of the diagnosis is HCM.
Lori left this world far too soon, but she also left a legacy. I am sure she would be proud of all that has been done. Lori was a giving, caring, and wonderful mother, sister, daughter, and friend. She was also a single mother who worked hard to support her children and keep a roof over their heads and good healthcare available. We understand that funding to get quality healthcare might be complicated, so in In my sisters’ memory, we have created the Lori Fund to provide micro travel grants to the HCMA community.
So I am going to turn this blog post into a bit of a fundraising request – hey, I am a non-profit Founder; we always look for ways to help the mission.
In memory of my beautiful sister Lori, would you please make a donation to this critical fund?
Click here
The HCMA participated in an American Heart Association summit of more than 40 health care professionals to bridge gaps in awareness, detection, and appropriate treatment of cardiac implantable electronic device (CIED) infections.
As many as one in 20 patients with a CIED, such as a pacemaker or implantable defibrillator, develops an infection within three years of implantation. Despite current guidelines, only one in five patients with a CIED infection undergoes timely extraction – the most appropriate treatment option. Early extraction is associated with a 41% lower risk of death. Female and Black patients are even less likely to undergo this lifesaving procedure.
During the summit, participants – including clinicians and patient advocates – shared insights to inform educational webinars and podcasts that will be promoted and disseminated across the American Heart Association’s extensive health care professional network. The multidisciplinary group also recommended:
“To treat CIED infections well, you need a broad-based, interdisciplinary approach to gather and leverage the available experts,” said Dr. Bruce Wilkoff, MD, planning group chairperson of the Association’s CIED initiative and director of cardiac pacing and tachyarrhythmia devices at Cleveland Clinic. “The American Heart Association is the perfect organization to get the message out. We can improve awareness, detection, and treatment of CIED infections if we all work together.”
The Hypertrophic Cardiomyopathy Association recognizes the importance of monitoring patient health, especially post-implantation, and being alert to the potential for infection.
Learn more about this effort to drive evidence-based, equitable CIED infection care and sign up to receive the summit report and access related educational resources at
www.heart.org/treat2beatciedinfection
.
REDWOOD-HCM OLE: First Long-Term Data from Open Label Extension
Cytokinetics’ also announced positive data relating to
aficamten
from REDWOOD-HCM OLE (
R
andomized
E
valuation of
D
osing
W
ith CK-274 in
O
bstructive
O
utflow
D
isease in
HCM
O
pen
L
abel
E
xtension) and the results from two additional analyses of
omecamtiv mecarbil
from GALACTIC-HF (
G
lobal
A
pproach to
L
owering
A
dverse
C
ardiac Outcomes
T
hrough
I
mproving
C
ontractility in
H
eart
F
ailure), all presented in Late-Breaking Science Sessions at Heart Failure 2022, an International Congress of the European Society of Cardiology. The analysis from GALACTIC-HF related to low blood pressure has been simultaneously published in the
European Heart Journal
.
“This first analysis from REDWOOD-HCM OLE showed that ongoing treatment with
aficamten
, now out to 6 months, resulted in sustained and substantial reductions in LVOT gradients, as well as improvements in functional class and symptoms. Overall safety and tolerability remain favorable, and all patients enrolled remain on
aficamten
.
We look forward to sharing additional longer-term data later this year,” said Fady I. Malik, M.D., Ph.D., Cytokinetics’ Executive Vice President of Research & Development. “In addition, the analysis of patients from GALACTIC-HF with lower blood pressure, often very challenging to treat, showed that the treatment effect of
omecamtiv mecarbil
was greater than in the overall population, blood pressure was not adversely affected, and safety was similar to placebo in these patients. In another analysis, the treatment effect of
omecamtiv mecarbil
was also comparable in patients with or without tricuspid regurgitation. These findings add to the growing body of evidence demonstrating that patients with clinical features suggestive of high-risk heart failure respond favorably to
omecamtiv mecarbil
.”
Ahmad Masri, M.D., Assistant Professor of Medicine, Division of Cardiovascular Medicine, School of Medicine, Oregon Health & Science University, presented the first long-term data from REDWOOD-HCM OLE. Patients enrolled in REDWOOD-HCM OLE have completed participation in REDWOOD-HCM, the Phase 2 clinical trial of
aficamten
. The primary endpoint is the incidence of adverse events and left ventricular ejection fraction (LVEF) <50%. Secondary endpoints include measures of the long-term effects of
aficamten
on left ventricular outflow tract gradient (LVOT-G), and assessments of steady state pharmacokinetics. The trial also includes a cardiac magnetic resonance imaging sub-study to assess changes in cardiac morphology, function and fibrosis. All enrolled patients receive
aficamten
. After entry into REDWOOD-HCM OLE, each patient started at 5 mg once daily and underwent echocardiography-guided dose titration approximately every two weeks during the first six weeks and subsequently will continue to have study visits approximately every twelve weeks thereafter.
Data from 38 patients enrolled in REDWOOD-HCM OLE were presented today, including 30 patients treated for 12 weeks and 19 patients treated for 24 weeks. The data showed that treatment with
aficamten
was associated with substantial reductions in the average resting LVOT-G (mean change from baseline (SD) = -32.6 (28) mmHg, p<0.0001 at 12 weeks, -32.8 (32.3) mmHg, p=0.0003 at 24 weeks) and Valsalva LVOT-G (-42.7 (38.7) mmHg, p<0.0001 at 12 weeks, -51.1 (35.3) mmHg, p<0.0001 at 24 weeks). These reductions started to occur within two weeks of treatment, were sustained through 24 weeks of treatment, and were achieved with only modest decreases in the average LVEF (-3.2 (4.2) %, p=0.0038 at 24 weeks). Compared to baseline (47% Class II, 53% Class III), New York Heart Association (NYHA) Functional Class was improved in the majority of patients (p<0.0001 for improvement by one or more NYHA class), and no patients had a worsening of NYHA Class. At 12 weeks, 72% of patients improved by one class and 7% improved by two classes; at 24 weeks 61% of patients improved by one class and 17% improved by two classes. For patients reaching Week 24, 56% were Class I and 39% were Class II. There were also significant improvements in cardiac biomarkers including NTpro-BNP (reduction of 70% from baseline, p<0.001) and cardiac troponin (20% reduction, p=0.002). Treatment with
aficamten
was well-tolerated with one temporary discontinuation due to LVEF <50% and one temporary down-titration, neither related to drug. Both patients remain on treatment with
aficamten.
SEQUOIA-HCM: Clinical Trial Design
Cytokinetics, Incorporated (Nasdaq: CYTK) today announced that SEQUOIA-HCM (
S
afety,
E
fficacy, and
Q
uantitative
U
nderstanding of
O
bstruction
I
mpact of
A
ficamten
in
HCM
), a Phase 3 clinical trial of
aficamten
in patients with symptomatic obstructive hypertrophic cardiomyopathy (HCM), is open to enrollment.
Aficamten
is a next-generation cardiac myosin inhibitor in development for the potential treatment of HCM. SEQUOIA-HCM builds on the positive results from REDWOOD-HCM, a Phase 2 clinical trial of
aficamten
, that demonstrated that treatment with
aficamten
for 10 weeks resulted in reductions from baseline compared to placebo in the average resting left ventricular outflow tract pressure gradient (LVOT-G) and the average post-Valsalva LVOT-G, with no treatment interruptions or discontinuations, nor any treatment related serious adverse events.
“We are pleased to announce the start of SEQUOIA-HCM, especially today which marks HCM Awareness Day,” said Fady I. Malik, M.D., Ph.D., Cytokinetics’ Executive Vice President of Research & Development. “With this registrational trial we are investigating the potential of
aficamten
to improve exercise capacity measured by peak VO
2
, as well as heart failure symptoms and functional class in patients who have substantial resting and provoked gradients despite standard of care therapy. Like in REDWOOD-HCM, we will use a personalized dosing scheme employing echo-guided dose titration to maximize the potential treatment effect and enable patients to reach a target dose quickly. For patients who complete SEQUOIA-HCM, we are also pleased to offer enrollment in the open label extension trial to provide patients with continued access to
aficamten
, and to gather longer term data on its safety and efficacy.”
SEQUOIA-HCM is expected to enroll 270 patients, randomized on a 1:1 basis to receive
aficamten
or placebo in addition to standard-of-care treatment. Following the positive results from Cohort 3 of REDWOOD-HCM, patients whose background therapy includes
disopyramide
are eligible for enrollment. Randomization will be stratified by use of beta-blockers and CPET exercise modality (treadmill or bicycle). At screening, patients enrolled in SEQUOIA-HCM must have a resting LVOT-G ≥30 mmHg, post-Valsalva peak LVOT-G ≥50 mmHg, be NYHA functional class II or III, and have a pVO
2
<80% predicted. Each patient will receive up to four escalating doses of
aficamten
or placebo based on echocardiographic guidance alone. Patients receiving
aficamten
will begin with 5 mg dosed once daily. At weeks 2, 4 and 6 patients will receive an echocardiogram to determine if they will be up-titrated to escalating doses of 10, 15 or 20 mg. Dose escalation will occur only if a patient has a post-Valsalva LVOT-G ≥30 mmHg and a biplane left ventricular ejection fraction (LVEF) ≥55%. Patients who do not meet escalation criteria will continue to receive their current dose or may be down-titrated if their LVEF is below 50%. Patients who complete SEQUOIA-HCM will be eligible to participate in an open label extension trial. Additional information can be found on
www.clinicaltrials.gov
.
SEQUOIA-HCM is a Phase 3 randomized, placebo-controlled, double-blind, international multi-center clinical trial designed to evaluate
aficamten
in patients with symptomatic obstructive HCM on background medical therapy for 24 weeks. The primary endpoint is the change in peak oxygen uptake (pVO
2
) measured by cardiopulmonary exercise testing (CPET) from baseline to Week 24. Secondary endpoints include the change from baseline to Week 12 and Week 24 in Kansas City Cardiomyopathy Questionnaire (KCCQ) score, proportion of patients with ≥1 class improvement in New York Heart Association (NYHA) functional class, post-Valsalva left ventricular outflow tract gradient (LVOT-G), and proportion of patients with post-Valsalva LVOT-G <30 mmHg, as well as the change from baseline to Week 24 in total workload during CPET.
About
Aficamten
Aficamten
is an investigational selective, small molecule cardiac myosin inhibitor discovered following an extensive chemical optimization program that was conducted with careful attention to therapeutic index and pharmacokinetic properties and as may translate into next-in-class potential in clinical development.
Aficamten
was designed to reduce the number of active actin-myosin cross bridges during each cardiac cycle and consequently suppress the myocardial hypercontractility that is associated with hypertrophic cardiomyopathy (HCM). In preclinical models,
aficamten
reduced myocardial contractility by binding directly to cardiac myosin at a distinct and selective allosteric binding site, thereby preventing myosin from entering a force producing state. The development program for
aficamten
is assessing its potential as a treatment that improves exercise capacity and relieves symptoms in patients with HCM as well as its long-term effects on cardiac structure and function.
Aficamten
received Breakthrough Therapy Designation for the treatment of symptomatic obstructive HCM from the U.S. Food & Drug Administration (FDA) as well as the National Medical Products Administration (NMPA) in China.
About Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy (HCM) is a disease in which the heart muscle (myocardium) becomes abnormally thick (hypertrophied). The thickening of cardiac muscle leads to the inside of the left ventricle becoming smaller and stiffer, and thus the ventricle becomes less able to relax and fill with blood. This ultimately limits the heart’s pumping function, resulting in symptoms including chest pain, dizziness, shortness of breath, or fainting during physical activity. A subset of patients with HCM are at high risk of progressive disease which can lead to atrial fibrillation, stroke and death due to arrhythmias. There are no FDA approved medical treatments that directly address the hypercontractility that underlies HCM.
About Cytokinetics
Cytokinetics is a late-stage biopharmaceutical company focused on discovering, developing and commercializing first-in-class muscle activators and next-in-class muscle inhibitors as potential treatments for debilitating diseases in which muscle performance is compromised. As a leader in muscle biology and the mechanics of muscle performance, the company is developing small molecule drug candidates specifically engineered to impact muscle function and contractility. Cytokinetics is readying for the potential commercialization of
omecamtiv mecarbil
, its cardiac muscle activator, following positive results from GALACTIC-HF, a large, international Phase 3 clinical trial in patients with heart failure. Cytokinetics is also developing
aficamten
, a next-generation cardiac myosin inhibitor, currently the subject of SEQUOIA-HCM, the Phase 3 clinical trial of
aficamten
in patients with hypertrophic cardiomyopathy (HCM). Cytokinetics is also developing
reldesemtiv
, an investigational fast skeletal muscle troponin activator, currently the subject of COURAGE-ALS, a Phase 3 clinical trial in patients with amyotrophic lateral sclerosis (ALS). Cytokinetics continues its over 20-year history of pioneering innovation in muscle biology and related pharmacology focused to diseases of muscle dysfunction and conditions of muscle weakness.
In recognition of Mental Health Month, the HCMA is working to raise awareness of trauma and the impact it can have on the physical, emotional, and mental well-being of children, families, and communities. Mental health is important at every stage of life, from childhood and adolescence through older adulthood.
SAMHSA’s National Helpline,
1-800-662-HELP (4357)
(also known as the Treatment Referral Routing Service), or TTY:
1-800-487-4889
is a confidential, free, 24-hour-a-day, 365-day-a-year, information service, in English and Spanish, for individuals and family members facing mental and/or substance use disorders. This service provides referrals to local treatment facilities, support groups, and community-based organizations.
This is an exciting time for the HCM Community. The FDA has approved Mavacamten under the brand name
CAMZYOS
, the first-in-class medication for symptomatic obstructive hypertrophic cardiomyopathy and the first drug developed specifically for HCM.
Our
website
will provide as much information as possible as it is released by BMS to be a trusted source of information during this exciting time. For the latest information please
click here
.
In June, there will be a webinar with more information forthcoming discussing in detail the label, the patients who may benefit, drug interactions, how to access the patient assistance programs, and more.
This is a historic day for our community, and it is important to take a moment and take a collective deep breath and admire the view.
The approval notification from the FDA is as unique as HCM, as it has specific language that is intended to ensure patient safety by the requirement of serial echocardiography to be used in dosing and observation. We believe it to be the first-ever such requirement and we applaud both the FDA and BMS for this language.
While this is the finish line, it is only the beginning of the true journey of a deeper understanding of the utility of this novel medication.
We are simultaneously at a finish line and a starting line. About 8 and a half years ago the HCMA met with a small startup company with plans of bringing a new class of medication specifically to the HCM Community.
The concepts and the science sounded strong, however, there was a long process of development, safety testing, therapeutic testing, analysis, filing for approval, supply chain processes, provider education, payer education, patient education, and finally – a ruling from the FDA.
There is a very special group of people we must stand and applaud – those who participated in clinical trials – every single patient who answered a survey, attended an education session, spoke to a clinical trial coordinator, signed up, and completed the trial. It is your time, energy, bravery, commitment, and passion that brought us to this historic moment.
It did “take a village” to get us here so let us also acknowledge all stakeholders in this process, this starts with venture capital firms who provided the needed capital for a startup operation called MyoKardia to begin its work. The staff at every level of MyoKardia set the course – I include senior leadership, scientists, marketing, and contractors as well as the clinical investigator team which encompasses many of our HCMA recognized Center of Excellence partners.
In 2020 as the Covid-19 pandemic was unfolding, the HCMA held an externally led Patient-Focused Drug Development Meeting inviting the FDA to hear directly from HCM patients about the true burden of HCM in the lives of those with HCM.
Then about a year and a half ago, Bristol Myers Squibb purchased MyoKardia and this provided a completely different team stepping in to take Mavacamten to the “finish line” and beyond.
The new BMS team came in with a limited understanding of HCM and I am pleased to say that communications with the HCMA began within days of the BMS acquisition. Many long conversations took place to ensure our unique community was understood at the deepest level possible.
The efforts of Bristol Meyers Squibb to educate clinicians about HCM have been nothing short of extraordinary and the HCMA is a proud partner in nearly a dozen various educational programs with partners from AHA, ACC, WomanHeart, Global Heart Hub, PCM Scientific, Prime, Peerview, and many others.
While the VALOR, Explorer, and the long-term extension trials are complete and we have a label for those with symptomatic obstructive HCM (typically referred to as HOCM) we are all still learning together about the optimal patients for this new “tool” in the HCM “Toolbox”. We believe it will be a beneficial option for some but caution that it will not work for everyone. The HCMA wants to be clear in our communications that this is not a cure for HCM. It is in fact a targeted therapy that some will find very helpful in managing HCM.
This is why I say we are at the starting line. It is time to understand the real-world use of Mavacamten specifically and myosin inhibitors in general. We encourage those with obstruction to discuss this treatment option with your HCM Center of Excellence care team to determine if it is right for you.
Over the years there have been high hopes for particular therapies, DDD Pacing in the early 90s, Alcohol septal ablation in the early 2000s, and other novel agents that never made it to the finish line. We learned that each of these concepts was not THE answer for all, but an option for some. I believe it is time to celebrate new options for those in need of hope and improved quality of life.
We know you have many questions and the HCMA will be providing support during these changing times. This will include a new player in your healthcare team, a specialty pharmacy. Mavacamten will only be available from a unique class of distribution reserved for medications that are both expensive and need specific monitoring to prescribe. Your insurance programs will guide you to the specialty pharmacy number.
The price of Camzyos is likely to evoke a bit of sticker shock at $90,000 per year, however, there are patient assistance programs with the end price being under $20.00 for the majority of those in the USA. The HCMA has worked very closely with BMS to deliver the most expansive patient assistance program in the cardiovascular space including both medication cost assistance and echocardiogram payment assistance (first ever!).
A special message to those outside the USA – additional countries will be seeking authorization of Mavacamten in the coming months or years, and it is anticipated that by 2024 it may be available globally.
My sincere thanks to all who have been a part of this important chapter of HCM history. I end with a word of balance and cautious optimism. We will learn together the effectiveness, sustainability, and role of myosin inhibitors for the HCM community. On your marks, get set, go – cautiously into the future together.
Sincerely,
Lisa Salberg
Founder and CEO
Get evaluated by an HCMA recognized Center of Excellence to see if Camzyos (Mavacamten) is right for you. Camzyos is not available in local pharmacies.
Click here
to see the list our list of Centers of Excellence.
We recently became aware of a policy of a New Jersey family medical practitioner (in your region) that has the ability to create significant misinformation, confusion, and financial hardship.
New Jersey Statue C.18A:40-41.6 clearly communicates the role of student-athlete preparticipation physical examinations. The Hypertrophic Cardiomyopathy Association, HCMA, and other organizations in NJ worked to pass updates to this legislation to ensure all student-athletes are protected from all forms of cardiac complications up to and including sudden cardiac arrest (hypertrophic cardiomyopathy (HCM) it the most common cause of SCA in the young athletes). The assessment of cardiac arrest risk is a complex area covered in the required state-based training module for all practitioners performing both sports physicals and ‘well-child” exams. It is essential to ensure that school boards, school medical oversight providers, coaches, students, and parents are informed by evidence-based, scientifically proven theories and approaches to surveillance.
This practitioner has stated in a posted message in his office and on his website which was circulated through social media. After we saw this post we have learned posts with similar language have been circulating in many communities in the USA:
“Student-Athletes Sports physicals are done primarily to make sure you are not at high risk for sudden cardiac death on the playing field. Covid vaccinations affect your risk. In response to a worldwide experience and vaccine adverse event monitoring, we are adopting a more precautionary sports physical sign off policy:
If you have received one of any Covid vaccine, we will not be able to compete in sports without preforming lab work and possible echocardiogram to rule out potential heart damage.”
The American College of Cardiology, the American Heart Association, and other organization in the documents cited below have
comprehensively refuted this false narrative
. This policy and others like it may result in students being subjected to testing not covered by insurance as there is no medical necessity for the rationale behind this suggested testing. Additionally, it may result in vaccinated students being discriminated against and subject to disqualification from participation with no scientific or clinical reasoning.
Dr. Martinez, is the medical director of
Sports Cardiology at Atlantic Health System
and co-director of the
Hypertrophic Cardiomyopathy Program
. He also served as Chair of the Sports and Exercise cardiology section for the American College of Cardiology and routinely speaks nationally and internationally on the care of the athlete, hypertrophic cardiomyopathy, myocarditis, and COVID-19 related matters.
Specific to young athletes, is the risk of vaccine-associated myocarditis higher than risks of COVID-19?
Myocarditis is a rare complication after the COVID-19 mRNA vaccination and has a much lower risk compared to the risks associated with COVID-19, regardless of age or sex. Young males aged 12-29 years have the highest myocarditis event rate by age grouping with 40.6 cases per million reported.9 In a separate analysis within the Military Health System between January-April 2021, out of 2.8 million doses of mRNA COVID vaccinations administered, only 23 men were diagnosed with clinical acute myocarditis (median age 25 [20-51] years).10 It is important to emphasize the extremely favorable benefit-to-risk ratio for COVID-19 vaccination in all age and sex groups.9,11 For SARS-CoV-2 infection, the mortality rate is 0.1-1 per 100,000 individuals aged 12-29 years. Although 39-47 estimated cases of myocarditis (primarily mild in severity) would be expected for every 1 million men aged 12–29 years after the second administered dose of mRNA vaccination,9 with vaccination, approximately 11,000 COVID-19 cases, 560 hospitalizations, 138 ICU admissions, and six deaths would be estimated to be prevented. Furthermore, beyond helping to reduce the risk of hospitalization and death, vaccination also helps to mitigate the risk of the long-term, debilitating effects of post-acute sequelae of SARS-CoV-2 infection, which is estimated to occur in 10-30% of individuals affected by COVID-19.12,13 Therefore, we continue to support vaccination in all athletes to minimize the risk of serious infection with COVID-19, as well as reduce individual viral load and spread of infection.
We encourage all governing bodies to ensure the science is followed. Please do not be confused efforts of some to inaccurately state the impact of COVID-19 vaccinations. If you would like to speak to Dr. Martinez he can be reached at 973-971-5899; additionally, you may email the HCMA at
support@4hcm.org
or call us 973-983-7429. If you would like to learn more about HCM please sign up for
HCM Academy
or visit
4hcm.org
Since around 1990, HCM has been regarded as a disease
caused entirely by single mutation
s in genes affecting a protein in the cardiac sarcomeres. There is no doubt that sarcomere mutations play an important role. But in the last several years, there has been a growing realization among researchers that
this cannot be the entire explanation
for the causes of HCM. This is because a majority of HCM patients do not appear to carry these mutations, and many people who do carry them never develop HCM. The development and inheritance of HCM are
more complicated
than was previously thought. However, for patients,
many of the lessons previously taught
about HCM genetics remain true. Current research may open the way to a
much-improved understanding of HCM
.
What causes HCM?
What causes HCM? Certain gene mutations (especially in the protein
myosin
in the heart muscle structures called
cardiac sarcomeres
) have been known to be important since 1989-1990 (Jarcho et al. 1989; Solomon et al. 1990). Since then, it seemed that nearly all HCM would be explained this way (Ho and Seidman 2006, Burke et al. 2016). That would be great! If we understood the basis of almost all HCM, we might be able to predict which family members of HCM patients are at most risk of developing HCM. It may even become possible to tune therapies to specific mutations.
Reasons to look for broader answers
But in the last several years, most HCM researchers and specialists have revised their understanding of HCM genetics. Sarcomere mutations play a big role in contributing to HCM. But despite identifying more and more of these mutations (there are more than 1000 currently known), they still explain only about a third (Bos et. al 2014; Gruner et al. 2013) or fewer;(Bonaventura et al. 2019 , Hathaway et al. 2021) of the cases of HCM. What makes matters worse, it’s not uncommon for some people with these mutations to go through life free of HCM.
All of this makes it difficult to continue to believe that HCM is generally a disease caused by single mutations in the sarcomere (or, in the jargon of genetics, an autosomal dominant mutation). Leading researchers today are investigating broader hypotheses about the causes of HCM (Maron et al. 2019, Harper et al. 2021, Watkins 2021).
What are the other possibilities?
If HCM isn’t mainly explained by mutations in single genes, what are the other possibilities? Most variation in physical characteristics (phenotypes) is caused by a combination of
All of these are reasons we speak of mutations as “contributing to” HCM or “promoting” HCM.
Genetics can be complicated!
This isn’t what we all learned in school about genetics. But if you think about it, is it surprising to hear that your teacher’s story was a simplified explanation? After all, if the school science class story was all there was to it, why would we still have people who study how genes work? Some traits work in that simple way, but most don’t.
Which lessons about HCM genetics are unchanged?
A lot of what you have learned about HCM genetics is still the case, including these points:
Looking ahead
It may be challenging to process the idea that HCM has more complex causes than previously thought. But humans are complex organisms. Even something as seemingly simple as eye color can be complicated (Mackey 2021). Since the sarcomere mutations we know can cause HCM only account for 30% of cases, we have to keep looking to see if we can find out what’s going on in the majority of HCM cases. The fact that researchers have recognized this means that they can move forward in studying the causes of HCM!
There is a lot to be learned about the causes of HCM.
Many people first discover they have HCM because blood flow out of their heart is
obstructed
. Some of these patients eventually need to have their
septums
reduced physically by surgery (
septal myectomy
) or
alcohol septal ablation
. Can a drug replace these invasive treatments?
On April 2, 2022
Dr. Milind Y. Desai
, a leading HCM researcher and practitioner, will present initial results on
mava
camten
‘s use in severely obstructed HCM patients. Dr. Desai is Director of the
HCM Center at the Cleveland Clinic.
Scheduled for the
American College of Cardiology
meeting in Washington. His talk on “Mavacamten as an alternative to surgical septal myectomy or alcohol ablation in patients with severely symptomatic obstructive hypertrophic cardiomyopathy” will present results from the
VALOR-HCM
trial.
This will be the first set of results on mavacamten’s use in HCM patients who are obstructed. For further background on mavacamten, see this
interview
with Dr. Martin S. Maron.
An expert panel of HCM doctors published two state-of-the-art reviews in the Feb. 1, 2022 issue of
Journal of the American College of Cardiology
. The reviews are aimed at doctors who treat patients with HCM. But they include much information of interest to patients.
The reviews cover some ground different from the
2020 AHA/ACC consensus document on HCM diagnosis and treatment
, and the authors reach some conclusions that are different from the AHA/ACC document. The members of the expert panel are Drs. Barry J. Maron, Miland Y. Desai, Rick A. Nishamura, Paolo Spirito, Harry Rakowski, Jeffrey A. Towbin, Joseph A. Dearani, Ethan J. Rowin, Martin S. Maron, and Mark V. Sherrid.
Some topics covered
Some of the topics covered include questions frequently raised by HCM patients, including
Where to find the reviews
These reviews are open-access and freely available. You can use these links to read them:
There is a lot of confusion about exercise for HCM patients. Some doctors advise “don’t do anything physical,” while others say, “do whatever you want.” But we can likely agree on one thing – they are both wrong, and the best advice is somewhere in the middle.
Exercise is important!
Specialists agree that exercise is healthy for people with HCM. Depending on symptoms, most people with HCM can safely do light exercise like walking. But the HCM experts usually advise people with symptomatic HCM not to do heavy exercise. For example, it’s best not to do intense activity or contact sports like football. But those with HCM who have no symptoms may be able to exercise without restrictions.
How do you decide what to do?
While exercising (and afterward), listen to your body and slow down or stop if you find your symptoms are increasing. And make sure you stay well hydrated.
You should also work with your HCM specialist to find the best level of activity for you.
A guide to exercise for HCM patients
One useful approach to fitness was created by an HCM specialist and team at the well-regarded Peter Munk Cardiac Centre in Toronto. This program has three fitness levels. Their website shows you how to maintain heart health through videos, medical information, and a proven exercise program.
http://hcmfitness.ca/
by Lisa Salberg, Founder and CEO of the Hypertrophic Cardiomyopathy Association
11/30/2021
Of all the players in the healthcare system, patient advocacy organizations are often the most disadvantaged when a drug hits the market and they find themselves pitted against health providers, payers, pharmaceutical companies, and policymakers, all of whom want their piece of the financial pie. In my 25 years as the CEO and Founder of the Hypertrophic Cardiomyopathy Association (HCMA) this was never truer than during the last nine months while engaging with the Institute for Clinical and Economic Review (ICER) in their evaluation of the cost-effectiveness of a new drug, mavacamten.
Mavacamten is a first-in-class drug under review by the Food and Drug Administration (FDA) for the treatment of hypertrophic cardiomyopathy (HCM), a challenging cardiac condition that is relatively common but not well understood. Patients are often misdiagnosed which can delay treatment and exacerbate conditions such as shortness of breath, fainting, arrhythmias, and fatigue. Until mavacamten, HCM patients relied upon medications that were not tested nor labeled specifically for the condition leading to a plethora of “medication cocktails” that treat symptoms but not the underlying problem.
The HCM patient community is literally my family. I was diagnosed with the condition at the age of 12, lost my sister at the age of 36, lost my father when he was 73, and several other family members dating back to my grandfather who suffered a cardiac arrest at the age of 43 in 1953. Currently, eight family members are under a cardiologist’s care. Since forming HCMA, my goal has been to educate patients about the condition and ensure they have the best care possible. Until ICER’s decision to review the cost-effectiveness of mavacamten, HCMA had never faced the need to put a financial amount on what it meant to live a heart condition that varied to the point, for example, of putting some in the ER on a moment’s notice, others on disability, and others without access to insurance due to a pre-existing condition.
To say that patient advocacy organizations such as HCMA are ill-equipped to play a game of David & Goliath with ICER is an understatement. Never mind that ICER is a non-profit organization, independently funded with academic roots and doctorate expertise, the sheer inequity between HCMA’s resources and know-how and ICER’s parade of health economists, physicians, analysts, statisticians, lawyers, and health policy experts is an embarrassment to any claim that the process of evaluating mavacamten was fairly conducted.
To be clear, ICER’s claim that a cost-effectiveness analysis of a new drug will result in more reasonable and just coverage decisions by payers (and indirectly benefit patients and reduce healthcare spending for us all) is a laudable goal. But it’s the mountains of assumptions and hundreds of pages of economic modeling that leaves anyone involved with ICER with one simple question: how can ICER know so much about a drug the FDA has yet to approve for use?
Yes, I was part of the internal review committee and yes, HCM patients provided public comment and personal testimony at a public hearing. But while that ostensibly checks the box for patient engagement, it’s worth noting what it meant in easy-to-understand language. First, and most importantly, it meant a great deal of time. Over the course of the last nine months, I spent no less than 20 hours each week in conference calls with ICER, reviewing scoping documents, correcting statistics, deciphering tables and graphs, providing background materials, learning health economics, identifying clinical experts, consulting with outside economists, conferring with other national organizations, educating patients on the public comment process, identify gaps in data collection, appearing on “live” social media events, preparing videos of patients for a public hearing, talking to consultants, and debriefing the organization once the Final Report was issued.
Often my efforts were mired by statistics and terminology that were thrown around to describe the sheer nature of what I, and hundreds of thousands of other HCM patients, experience well beyond the medical bill that arrives in the mail. These ICER refers to as “contextual considerations” and are omitted from the official analyses due to their vague, difficult-to-measure quality. But they are hugely important to patients because they deal with such things as vocational choices, whether to have children, where to go to school, and the training needed for in-home care. All are factors that “cost” HCM patients dearly and yet my insistence that they be included fell short. The process was time time-consuming, tedious, and oftentimes, confrontational. None of this work was in the HCMA strategic plan for 2021.
Secondly, while fortunate to have Board members and HCM patients with professional expertise in health policy and reimbursement, their time alone required significant additional funding not in the organization’s budget for the year. Funds were also needed to prepare patients for public meetings, create surveys of insurance trends, hire consultants and writers, and ramp up communication and marketing efforts to educate patients through social media outlets and patient discussion groups.
ICER’s process moves at warp speed, and they did not slow down for an understaffed patient advocacy organization such as HCMA. It was an enormous commitment of time and money to participate effectively. As a small nonprofit, HCMA’s resources are limited, so every dollar and minute ICER demanded of me, or the organization was a dollar and minute taken from a patient in need of information and other responsibilities.
But most importantly, ICER’s review left an indelible impression on me that will resonate in the years to come as mavacamten enters the market – the undeniable truth that just because a new drug, with a promise of restored health exists, is no guarantee that it will be available to patients in need. With each document I reviewed and each hurdle I faced, I felt the weight of this reality facing the HCM community and wondered if my time was being well spent. Knowing ICER’s review could be misinterpreted or misused by health payers skittish about its value when whittled down to “quality-adjusted life years” sickened me.
In the end, however, I’m pleased that ICER clearly heard and incorporated many of HCMA’s perspectives in this assessment. They asked and we answered. Yet, our loss of time and the need for additional funds were unplanned for and have altered the plans for the organization significantly. Considering the drug is yet to be approved by the FDA and ICER’s evaluation relies on only one clinic trial comprised of 300 patients, it’s not difficult to conclude that it was based upon more assumptions than facts and has indelibly placed a monetary value on the unknown which may be hard to erase.
Unfortunately, patients are forced to navigate a complicated web of payer and provider priorities just to get treatment from a system that is ostensibly designed to serve them. While I appreciate that I was given a seat at the table, in the future I hope ICER will consider ways that make it easier for patients to engage, help patient advocacy organizations find funding and expertise to level the playing field, act only when sufficient data is available, and make investments in patient preference information and other outcomes data before making conclusions about the clinical or cost cost-effectiveness of treatment.
Getting access to high-quality treatment should not be this hard. Nor should it cost this much. We all have a role to play in patient-centered care.
It’s Thanksgiving in the U.S. But we’re not going to list things we should be thankful for, or rehash the history of the holiday. Instead, let’s think about gratitude, a response to some benefit given to you by someone (or something) else.
Mental attitudes have been shown to affect our health. And this seems to be true for HCM as well. But let’s be clear: you won’t cure your heart by having a “positive attitude.” Many of us with HCM have stories about how infuriating it can be to have people tell us that we need to be more optimistic instead of having (a myectomy, ICD, transplant, drug . . .). That said, attitude does matter.
There’s an old idea that the mind is entirely separate from the body. This is often called “Cartesian mind-body dualism” after the 17th century French philosopher René Descartes. Some people still think this. But research has shown that our minds are functions of our bodies, and that our state of mind can affect our bodies. By the way, let’s give Descartes credit. His work laid the basis for a lot of mathematics, scientific methodology, and philosophy. He wasn’t just some guy who thought odd stuff. But even really smart guys sometimes get things wrong.
Health and gratitude
There’s a fair bit of research on how gratitude affects health. It’s difficult to distinguish between people’s personalities (some people are just more likely to be grateful than others) and their responses to individual events. Researchers call the personality trait “trait gratitude,” and the responses to individual events “state gratitude.”
Gallagher et al. (2020) studied the effect of gratitude on healthy university students’ cardiovascular responses to stress. The stress was a repetitive arithmetic problem. Students were told they were not doing well, even when they were! Then they were told to repeat portions of the problem. The researchers asked if this affected blood pressure or heart rate. They scored gratitude with questionnaires: one about attitudes in life, and one about responses to events in the past week.
The result is impressive. The more students scored for state gratitude, the less their systolic blood pressure increased! There was no effect of trait gratitude. But neither measure of gratitude was related to changes in heart rate or diastolic pressure. The researchers controlled for a number of things that might confound the results.
This suggests that gratitude about recent life events may help people handle stress better.
What should we conclude about our own lives?
Our blood pressure may benefit from giving a bit of thought – and gratitude – to good things as they happen in life. That’s even relatively easy to do! I think it’s a bit comforting that there’s no suggestion in this study that we need to change our basic personalities. That’s hard to do!
We don’t know if gratitude may affect our cardiovascular health in other ways. We’ll have to wait for further research.
If we can ignore the tendency to eat and drink too much, Thanksgiving might actually offer some health benefits. Just remember to thank the cook!
Literature cited
S Gallagher, A. Castro Solano, and M. Fernández Liporace. 2020. State, but not trait gratitude is associated with cardiovascular responses to acute psychological stress.
Physiology & Behavior
221: 112896.
https://doi.org/10.1016/j.physbeh.2020.112896
The day that changed my life was June 12, 1995, a Monday. The phone rang at 5:50am, which is never a good thing. I managed to roll over with my 8-month pregnant belly and answer the phone on the second ring. The voice was familiar but panicked it was my mother. “She is not breathing… your father is on his way…we called 911… the kids are there watching this… I do not know if she is alive… ”. Adam, my husband of 5 years walked in the room as I sprang to my feet with a look of confusion and panic and he knew it was bad news. “Mom we are on our way down we will meet you at the hospital.”
Just 8 days earlier my sisters and mother gave me a baby shower. Everyone was so happy and excited for a new baby in the family and here we are a week later in a living hell.
June 3, 1995 arriving at my baby shower with my nieces Stacey and Laura walking me in for the “surprise”. 8 days prior to Lori’s sudden cardiac arrest.
I grabbed one of my husband’s white dress shirts and began to dress, I recall not being able to button it and he helped me. I looked at him and said “Lori, she is not breathing, dad is on his way.” I pulled on pants as I walked through the house with my mind racing. We lived in Sussex County, NJ about 45 minutes from the family home in Rockaway NJ and the hospital was a little further away in Denville. We tossed some food down for the dog and cat while I brushed my teeth and we ran to the car. We were on our way before 6am. The drive seemed to take forever that morning. It was 1995 – the days of no cell phones or internet access in a car; we had no way of knowing what was waiting for us at the hospital.
I recall walking into the all too familiar emergency room. My sister was in a critical care bed with a breathing tube, ventilator and cardiac monitors, she looked peaceful too peaceful… I panicked and said “what is her condition?”. “We got her back,” said a voice “Back?” I replied in a stunned voice. All these years later, there are moments of this day, this week that I can recall as clear as looking out my window today. “BACK?” I can hear myself say the word. “Back”, from where and would she leave us again?
Lori age 18.
A few weeks before this day my sister asked me something, at the age of 36 she looked worried and very serious. “If anything ever happens to me will you take the kids?” She was divorced from their father, a less than responsible individual, and recently remarried to a man with 2 children of his own. I said, “of course, I love them and would never let anything bad happen to them”. I was 26 years old at the time and about 6 months pregnant, who would ever suspect that you would ever have to act on that type of a promise. So now, here I stood at the foot of a hospital bed, discussing transport to a trauma center level hospital and wondering when my sister would wake up so I could yell at her for scaring the hell out of us all.
The family all met at the hospital later that day after she was transferred to
Morristown Memorial, now Morristown Medical Cente
r. We were in waiting mode. The doctors advised us to wait for her to wake up to see if there had been brain damage. Watching my niece and nephew ages 10 and 13 sitting at their mothers bedside scared and unsure of anything was just about the most heart wrenching thing anyone could watch. Then reality started to creep in… this scene is not new to my family it’s happened before… how many more would suffer the same fate? Am I next? I must protect my family!
In 1953 my grandfather suffered a sudden cardiac arrest at his home at the age of 43 and my father, then 17 yrs old, attempted to do chest compression’s to save him, it failed. In 1990, my uncle, age 47, died suddenly while at an event a few hours from his home in Montana and now my sister was laying lifeless in a bed hooked up to machines – this time Dad’s CPR worked and we have her back – but was it enough? We all had the same condition – and some of us knew it, others would learn later. We have
hypertrophic cardiomyopathy
, HCM (in the 1970’s it was called idiopathic hypertrophic subaortic stenosis, IHSS) – in short it is a genetic conditions that causes the heart muscle to become thick and stiff and can cause sudden cardiac arrest. I was diagnosed when I was 12 and had already had a stroke in 1990 weeks after my wedding due to complications from my diagnosis. My niece was diagnosed at 8 and I was carrying a child who had a 50/50 chance of having it too. My nephew’s status was unclear. My father was diagnosed in his late 50’s.
The next 4 days were surreal and heart breaking. There were moments that were gut wrenching – like when my sister Lynn and I took Lori’s jewelry off of her to keep it safe while she was in ICU, we each put on a ring and swore to wear it until she woke up. Then there were lighter moments like bargaining with Lori to wake up – you see Lori had gone grey very young and I had always told her to color her hair to make her look young, she would not do it. So I stood bed side saying things like “ya know if you don’t wake up soon I am pulling out the hair color and lord only knows what you will end up with”. For brief moments it made us smile. We bathed her, we watched, we waited… nothing really changed.
My sister and I had been involved in
medical research to learn more about the condition
we had in hopes of finding answers to serve the rest of our family. We thought we were in the best hands, it turned out that the best hands had been let go by the institute, the replacement had little experience in our condition, and lead many people astray. On June 12, 1995 I had no idea of this truth.
Wednesday June 14, 1995 the doctors wanted to do an EEG to measure brain activity. There was none to speak of, artifact at best they thought, but let’s give it time they said. We met as a family with the neurologist and discussed the extend of the brain damage – in short there was less than a 5% chance at any meaningful recovery and we would know more with a confirmation EEG in the morning. Lori was unable to breathe on her own and much of her brain was destroyed by the lack of oxygen and length of time to defibrillation. We all knew she was gone, but we all wanted more time. We discussed the option of her saving the lives of others, and we all opted to permit organ donation should she be a suitable candidate.
The rest of the day passes with no change and we arrived at Friday morning June 16. The final EEG is done, there is no brain activity at 4:36pm her cardiologist walks in and checks her vital signs and does the most compassionate thing I have ever witnessed to this day – he leaned over and kissed her forehead and cried. I walked back into the room after he left. I closed the blinds… took my sisters hand to my belly and begged and pleaded for her to wake up! I begged for her to see her niece just once, I made deals with heaven and hell and in the end I just cried. It was about 30 minutes later that I realized that the reason the doctor was there was to pronounce my sister legally dead and to begin the process of organ donation. My sister was dead.
My sister and I had been involved in medical research to learn more about the condition we had in hopes of finding answers to serve the rest of our family. We thought we were in the best hands, it turned out that the best hands had been let go by the institute, the replacement had little experience in our condition, and lead many people astray. On June 12, 1995 I had no idea of this truth.
Lori’s death lead me on a quest for knowledge to learn all I could about this condition that had claimed the lives of, to my knowledge at that time, 4 family members. I began to ask questions, to dig, to not take no for an answer… my life and the lives of those I loved were on the line and I had lost enough. Damn it I was angry I had lost my sister and a best friend. My digging lead me to learn about other specialists in my condition and that the Doctor we had entrusted was actually not as well regarded as I had been lead to believe. In a strange twist of fate a man I had worked with told me one day in the early 1990’s that his niece suffered from a rare heart problem and it turned out to be the same condition as ran in my family, HCM. I had given the name of our doctor to his family and they too had sought care with this man. In November 1995 this little girl, Jennifer, also passed away at the age of 8. First Lori, now Jennifer… who else?
Michael Moss appearing on CBS This Morning 2016
I reached out to reporters to help me learn more and found an amazing man who was at the time working for the Wall Street Journal, Michael Moss, – over the next 6 months I dug, read, learned and cried more than any one person should. On the one year anniversary (to the day) of my sisters’ cardiac arrest the largest article ever written in the
Wall Street Journal
on a medical topic appeared on the front page and my family filed a law suit against the United States of America, because the doctor we trusted was an employee of a government agency. During this same time I became frustrated with the lack of information available for patients with my condition. Then a conversation that I had with my sister a few months before she died came back to me – she had said we should have a support group for people like us. I was never the “support group” kind of person, but I did think a hybrid support and education organization could do a great deal of good. In February 1996 I filed for non-profit status of the
Hypertrophic Cardiomyopathy Association
and launched our first website shortly thereafter. While the beginning of the organization was nothing more than a website and a few newsletters it soon grew as did my little girl, now 21 and in college. Our first annual meeting took place in 1997 and has grown each year as has our website. To date the HCMA has helped over 7600 families learn about their condition, make wise healthcare choices, educated physicians, families and the public, helped thousands patients access heart surgery and a similar number access lifesaving ICD therapy and about 5% be listed for transplant. We have created risk assessment tools and hands on approaches to identify those at risk for sudden cardiac arrest in time for action.
So when I look to the day that changed it all…. It was June 12, 1995 and it took me many years to fully understand that my sister did not die without leaving her mark on this world. Each and every person who is helped by the HCMA is helped not because my sister died, but because she lived. There is an expression some call it the chaos factor – a butterfly flaps her winds in Europe and its wind can create a hurricane across the globe – My sister Lori is that butterfly and the winds of change are here – its time to not let our loved ones die when options are available to protect them. Oh… and if you are wondering… I wore Lori’s ring every day until February 2, 2017, when I handed the ring to Lori’s daughter Stacey as I was preparing to receive my heart transplant but that is a story for another day.
Today is the 22nd anniversary of the day that changed my life. I still miss my sister and I still fight for change. The last words I said to my sister on June 11, 1995 at 9:30pm… were “talk to you later, bye”, what I wouldn’t give to have just one more phone call, one more conversation, or one last “Lori look”.
I encourage readers to remember to make the most of each day and never forget how fragile life truly is. Say what needs to be said because you never know when “talk to you later” means never again.
In Memory of Lori Anne Flanigan Munson January 9, 1959 – June 16, 1995 – Love never dies – it simply changes form.
Florence Italy graffiti art, while randomly thinking of Lori while walking in Florence during a cardiology conference, this image appeared on a building, there is an LA written in the heart – Lori Anne
The day that changed my life was June 12, 1995, a Monday. The phone rang at 5:50am, which is never a good thing. I managed to roll over with my 8-month pregnant belly and answer the phone on the second ring. The voice was familiar but panicked it was my mother. “She is not breathing… your father is on his way…we called 911… the kids are there watching this… I do not know if she is alive… ”. Adam, my husband of 5 years walked in the room as I sprang to my feet with a look of confusion and panic and he knew it was bad news. “Mom we are on our way down we will meet you at the hospital.”
Just 8 days earlier my sisters and mother gave me a baby shower. Everyone was so happy and excited for a new baby in the family and here we are a week later in a living hell.
I grabbed one of my husband’s white dress shirts and began to dress, I recall not being able to button it and he helped me. I looked at him and said “Lori, she is not breathing, dad is on his way.” I pulled on pants as I walked through the house with my mind racing. We lived in Sussex County, NJ about 45 minutes from the family home in Rockaway NJ and the hospital was a little further away in Denville. We tossed some food down for the dog and cat while I brushed my teeth and we ran to the car. We were on our way before 6am. The drive seemed to take forever that morning. It was 1995 – the days of no cell phones or internet access in a car; we had no way of knowing what was waiting for us at the hospital.
I recall walking into the all too familiar emergency room. My sister was in a critical care bed with a breathing tube, ventilator and cardiac monitors, she looked peaceful too peaceful… I panicked and said “what is her condition?”. “We got her back,” said a voice “Back?” I replied in a stunned voice. All these years later, there are moments of this day, this week that I can recall as clear as looking out my window today. “BACK?” I can hear myself say the word. “Back”, from where and would she leave us again?
A few weeks before this day my sister asked me something, at the age of 36 she looked worried and very serious. “If anything ever happens to me will you take the kids?” She was divorced from their father, a less than responsible individual, and recently remarried to a man with 2 children of his own. I said, “of course, I love them and would never let anything bad happen to them”. I was 26 years old at the time and about 6 months pregnant, who would ever suspect that you would ever have to act on that type of a promise. So now, here I stood at the foot of a hospital bed, discussing transport to a trauma center level hospital and wondering when my sister would wake up so I could yell at her for scaring the hell out of us all.
The family all met at the hospital later that day after she was transferred to
Morristown Memorial, now Morristown Medical Cente
r. We were in waiting mode. The doctors advised us to wait for her to wake up to see if there had been brain damage. Watching my niece and nephew ages 10 and 13 sitting at their mothers bedside scared and unsure of anything was just about the most heart wrenching thing anyone could watch. Then reality started to creep in… this scene is not new to my family it’s happened before… how many more would suffer the same fate? Am I next? I must protect my family!
In 1953 my grandfather suffered a sudden cardiac arrest at his home at the age of 43 and my father, then 17 yrs old, attempted to do chest compression’s to save him, it failed. In 1990, my uncle, age 47, died suddenly while at an event a few hours from his home in Montana and now my sister was laying lifeless in a bed hooked up to machines – this time Dad’s CPR worked and we have her back – but was it enough? We all had the same condition – and some of us knew it, others would learn later. We have
hypertrophic cardiomyopathy
, HCM (in the 1970’s it was called idiopathic hypertrophic subaortic stenosis, IHSS) – in short it is a genetic conditions that causes the heart muscle to become thick and stiff and can cause sudden cardiac arrest. I was diagnosed when I was 12 and had already had a stroke in 1990 weeks after my wedding due to complications from my diagnosis. My niece was diagnosed at 8 and I was carrying a child who had a 50/50 chance of having it too. My nephew’s status was unclear. My father was diagnosed in his late 50’s.
The next 4 days were surreal and heart breaking. There were moments that were gut wrenching – like when my sister Lynn and I took Lori’s jewelry off of her to keep it safe while she was in ICU, we each put on a ring and swore to wear it until she woke up. Then there were lighter moments like bargaining with Lori to wake up – you see Lori had gone grey very young and I had always told her to color her hair to make her look young, she would not do it. So I stood bed side saying things like “ya know if you don’t wake up soon I am pulling out the hair color and lord only knows what you will end up with”. For brief moments it made us smile. We bathed her, we watched, we waited… nothing really changed.
My sister and I had been involved in
medical research to learn more about the condition
we had in hopes of finding answers to serve the rest of our family. We thought we were in the best hands, it turned out that the best hands had been let go by the institute, the replacement had little experience in our condition, and lead many people astray. On June 12, 1995 I had no idea of this truth.
Wednesday June 14, 1995 the doctors wanted to do an EEG to measure brain activity. There was none to speak of, artifact at best they thought, but let’s give it time they said. We met as a family with the neurologist and discussed the extend of the brain damage – in short there was less than a 5% chance at any meaningful recovery and we would know more with a confirmation EEG in the morning. Lori was unable to breathe on her own and much of her brain was destroyed by the lack of oxygen and length of time to defibrillation. We all knew she was gone, but we all wanted more time. We discussed the option of her saving the lives of others, and we all opted to permit organ donation should she be a suitable candidate.
The rest of the day passes with no change and we arrived at Friday morning June 16. The final EEG is done, there is no brain activity at 4:36pm her cardiologist walks in and checks her vital signs and does the most compassionate thing I have ever witnessed to this day – he leaned over and kissed her forehead and cried. I walked back into the room after he left. I closed the blinds… took my sisters hand to my belly and begged and pleaded for her to wake up! I begged for her to see her niece just once, I made deals with heaven and hell and in the end I just cried. It was about 30 minutes later that I realized that the reason the doctor was there was to pronounce my sister legally dead and to begin the process of organ donation. My sister was dead.
My sister and I had been involved in medical research to learn more about the condition we had in hopes of finding answers to serve the rest of our family. We thought we were in the best hands, it turned out that the best hands had been let go by the institute, the replacement had little experience in our condition, and lead many people astray. On June 12, 1995 I had no idea of this truth.
Lori’s death lead me on a quest for knowledge to learn all I could about this condition that had claimed the lives of, to my knowledge at that time, 4 family members. I began to ask questions, to dig, to not take no for an answer… my life and the lives of those I loved were on the line and I had lost enough. Damn it I was angry I had lost my sister and a best friend. My digging lead me to learn about other specialists in my condition and that the Doctor we had entrusted was actually not as well regarded as I had been lead to believe. In a strange twist of fate a man I had worked with told me one day in the early 1990’s that his niece suffered from a rare heart problem and it turned out to be the same condition as ran in my family, HCM. I had given the name of our doctor to his family and they too had sought care with this man. In November 1995 this little girl, Jennifer, also passed away at the age of 8. First Lori, now Jennifer… who else?
I reached out to reporters to help me learn more and found an amazing man who was at the time working for the Wall Street Journal, Michael Moss, – over the next 6 months I dug, read, learned and cried more than any one person should. On the one year anniversary (to the day) of my sisters’ cardiac arrest the largest article ever written in the
Wall Street Journal
on a medical topic appeared on the front page and my family filed a law suit against the United States of America, because the doctor we trusted was an employee of a government agency. During this same time I became frustrated with the lack of information available for patients with my condition. Then a conversation that I had with my sister a few months before she died came back to me – she had said we should have a support group for people like us. I was never the “support group” kind of person, but I did think a hybrid support and education organization could do a great deal of good. In February 1996 I filed for non-profit status of the
Hypertrophic Cardiomyopathy Association
and launched our first website shortly thereafter. While the beginning of the organization was nothing more than a website and a few newsletters it soon grew as did my little girl, now 21 and in college. Our first annual meeting took place in 1997 and has grown each year as has our website. To date the HCMA has helped over 7600 families learn about their condition, make wise healthcare choices, educated physicians, families and the public, helped thousands patients access heart surgery and a similar number access lifesaving ICD therapy and about 5% be listed for transplant. We have created risk assessment tools and hands on approaches to identify those at risk for sudden cardiac arrest in time for action.
So when I look to the day that changed it all…. It was June 12, 1995 and it took me many years to fully understand that my sister did not die without leaving her mark on this world. Each and every person who is helped by the HCMA is helped not because my sister died, but because she lived. There is an expression some call it the chaos factor – a butterfly flaps her winds in Europe and its wind can create a hurricane across the globe – My sister Lori is that butterfly and the winds of change are here – its time to not let our loved ones die when options are available to protect them. Oh… and if you are wondering… I wore Lori’s ring every day until February 2, 2017, when I handed the ring to Lori’s daughter Stacey as I was preparing to receive my heart transplant but that is a story for another day.
Today is the 22nd anniversary of the day that changed my life. I still miss my sister and I still fight for change. The last words I said to my sister on June 11, 1995 at 9:30pm… were “talk to you later, bye”, what I wouldn’t give to have just one more phone call, one more conversation, or one last “Lori look”.
I encourage readers to remember to make the most of each day and never forget how fragile life truly is. Say what needs to be said because you never know when “talk to you later” means never again.
In Memory of Lori Anne Flanigan Munson January 9, 1959 – June 16, 1995 – Love never dies – it simply changes form.
originally posted February 24, 2017 Huffington Post by Lisa Salberg
So there I was holding my heart in my hands while a new heartbeat was in my chest. Talk about surreal moments! The path that led to this moment encompasses 36 of my 48 years on this earth and in this one moment, I came face to face with the very thing that I had hated, feared, and loved… my heart.
The story actually begins far before my birth and continues past me to my daughter, niece, and nephew. These are stories for another day. Today I want to tell you about the first and last chapter of my heart. In the next installment, I will tell you what is in store for her future, because yes, she has an important future.
I was diagnosed with hypertrophic cardiomyopathy when I was 12 years old. I was in the 7th grade at Copeland Middle School in Rockaway NJ and it was physical day. You remember those awkward events when all the girls had to take their shirts off down to bras and have the doctor listen to their heart and the nurse check for scoliosis. When I stood before the doctor, his face dropped and he told the nurse to clear the room. He then had the nurse listen as well. I knew right then that the same disease that had killed my grandfather at 43, impacted my uncle and sister, had just shown its ugly head, and my life was forever changed. I was told I had to see a cardiologist soon or not be permitted back in school. After the consult with Dr. Paul Goldfinger, he confirmed the diagnosis (then called Idiopathic Hypertrophic Subaortic Stenosis IHSS – now called hypertrophic cardiomyopathy-HCM). My first question was “do I have to do my homework?” Why that question? Because he had just told me, in 1980, there was no real treatment, no cure, and I could die suddenly at any time. Did I mention I was 12?
In my next posts, I will fill in the years between and explain far more about HCM, healthcare policy, and how it has impacted my life and the lives of those I serve as CEO/Founder of the
Hypertrophic Cardiomyopathy Association
. But now let’s flash forward to September 2016.
HCM is a highly variable disease, some people have minimal to no symptoms at all while others are severely impacted. I spent much of my life living on a balance beam to manage symptoms. In 2011, I found out that my heart was becoming too stiff and the ejection fraction (the amount of blood your heart process per beat) had dropped. This was the indication that transplant would be my only option but I had to get sicker before I could list. You must understand that heart transplantation is
NOT
given to improve symptoms it is
ONLY
given to save a life. So you have to be well enough to withstand the surgery and sick enough to be “terminal” without the transplant.
September 2016 was a busy month for me work-wise and an exciting one. I was invited to a meeting at the White House to discuss “Cardiovascular Health in America”. This was my second time participating in this event. While I stood there to make a statement about the importance of better understanding genetic causes of heart disease something happened I felt my heart acting strange and I had to stop speaking and ask for a moment. Little did those in the audience know, I nearly passed out. I regained myself and acted as if everything was fine – I am good at that. I returned home and the next morning attended a wedding, then home for a nap because my daughter had gotten us tickets to a concert. Ironically, it was Joan Jett and the Blackhearts and Heart (a double heart concert). Sunday I rested. Monday I flew to Grand Rapids Michigan to review a new HCM program at Spectrum Health. I spent two days there and flew home Wednesday to a meeting at Morristown Medical Centers Chanin T. Mast HCM program. This is where I also received my own care for HCM under Dr. Martin Maron. When I got to the meeting, my nurse Deatrah Debose said I didn’t look right. I told her I didn’t feel right but I’d rest for a day and if I was not better I would come in for some IV Lasix therapy to get the extra fluid off of me. Friday I admitted myself. Saturday the Lasix took off 6 pounds, but I didn’t get better, I got worse. I laid in bed with oxygen and knew this time I was really in trouble and I knew where this was leading. I shut down I could hardly speak. My mind raced to my family, my community, my work how was I going to do all I wanted to do. Wait, none of that mattered anymore. How was I going to survive, that is all that mattered.
Monday a right heart catheterization indicated that my heart was simply not working anymore. My “cardiac index” which should be 2.2-4.1 was only 1.4. My heart was simply not moving blood anymore. I was given a PICC line with a medication called milrinone which did improve my index to 1.8 and I was sent home to begin the listing process. It took 2 months to complete the tests and classes and review to be listed. On November 23 I was officially listed on
UNOS
as a status 1B for transplant. I will explain more about this process in the future.
I did, however, make a deal with my transplant center
Newark Beth Israel Medical Center.
I must KEEP my heart
. I wished to use it as a teaching tool. I did not think this was so strange, but as it turns out I was the first person to make this request at this hospital. I made arrangements with a program that specializes in Plastination, a process that makes organs last forever. I arranged the logistics in advance and asked my husband to please ship my heart away after my transplant (it didn’t sound odd at the time, but after it was done I wondered if I had really considered how this impacted him … he survived so I guess it wasn’t that bad).
Groundhogs day 2017 12:23 am the phone rang. “ Lisa? This is Emily from Newark Beth, we have your heart. How soon can you be here?”
Weight management is a challenge for many. Losing weight is a challenge for nearly everyone who tries it. It can be more difficult for many HCM patients because we often take drugs that slow us down. It’s also hard to study: researchers can assign different groups to different diets, but how can they tell who follows the diet closely, loosely, or not at all? How can they know how much exercise people really get? This problem is more challenging because we also know that weight loss is important for many people, especially those with HCM.
A
recent pilot study
(20 subjects all with BMI greater than 30, which is labeled “obese”) by a group in Italy, the UK, and the US, though, provides some initial evidence of beneficial effects on the heart from a weight loss and exercise program. Participants used the Mediterranean diet plus an exercise program. Before the study, and at 12 and 24 months, they were examined using
echocardiograms
,
electrocardiography
,
Holter monitor
,
CPET
,
cardiac MRI
, and some blood tests. Participants also were given questionnaires asking how well they followed the diet and exercise protocols.
Not surprisingly, some participants lost a lot of weight while others lost less. Regardless of how much they lost, though, there was a significant pattern: the more weight lost, the better the results were for a reduction in several measurements related to the risk of developing atrial fibrillation, increasing their ability to exercise, and in the pressure in the pulmonary artery.
This small pilot study will hopefully lead to more extensive research. But in any case, it should help give us some of the motivation we need to lose some of that extra weight!
The scientists used the SHARE (Sarcomeric Human Cardiomyopathy Registry), a database relating patient genetic test results to their health. SHARE was established by eight HCM centers (in Brazil, Italy, Netherlands, and the USA).
The results are clear. Those with a body mass index (BMI) greater than 30 developed afib at about 1.4 times the rate of those with “normal” BMI. They were about 1.9 times more likely to develop heart failure. These patterns hold true even after the researchers controlled for age, sex, obstruction, and genotype.
Carrying too much weight puts us at risk of serious heart problems. This is a powerful reason to start a weight loss program!
