Category: Blog

Delays Common in HCM Diagnosis

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As many as 60% of patients with hypertrophic cardiomyopathy don’t receive an appropriate diagnosis when they first come to medical attention.

In fact, HCM patients receive on average of 4 misdiagnoses before finally receiving an accurate HCM diagnosis and appropriate treatment.  A recent paper highlights the this issue which is largely due to a lack of knowledge of HCM in the medical community.  Even cardiologists often fail to accurately diagnose and treat HCM, emphasizing something that those of us with HCM already know – not all cardiologists are equal when it comes to recognizing and treating HCM.  Experts are key! 

Medical professional and patient education and awareness initiatives are critical to address these issues. Hopefully, over time we will start to see improvements to HCM diagnosis and treatment now that there are increasingly new professional and educational initiatives focused on and around HCM, such as the HCM Society.

Times of London Shines Light on HCM

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Just in time for today’s HCM Awareness Day, on Sunday the Times of London ran a feature story about the work that U.K. professor Hugh Watkins and his team are doing to find a cure for HCM using gene therapy.

The story begins with an interview with Massachusetts resident Wendy Borsari, who shared the tale of her family’s extensive and tragic history with HCM.  Over the past several generations, 27 members of Wendy’s family have suffered from HCM, and family members have endured 7 heart transplants and 18 deaths.

On a personal note, Wendy has worked tirelessly for many years to improve things for other HCM patients, and she was integral to the creation of HCMBeat. You can read her guest blog about her daughter Ashlan’s cardiac arrest right here.

Going back to the Times feature, the focus of the story is on the work that a team led by Dr. Hugh Watkins is doing under the name the Cure Heart Project.  The project was funded by a £30 million grant ($36 million) from the British Heart Foundation which the team won last year.   Over the 5 years of the grant, Dr. Watkins and his team are testing multiple gene therapies intended to treat genetic cardiomyopathies. The team plans to have their technology ready for human trials by the end of the study. The hope is that these treatments will stop progression of disease, possibly reverse some of the damage, and if given early enough, the scientists hope that the treatments can prevent the disease from developing at all.

Clinical trials would start on the sickest patients, such as those who are waiting for a heart transplant. Once they demonstrate that the treatments work, they hope to administer the treatment to gene positive patients who have not yet developed the disease with the hope that in these patients, it would be a cure.

With so much work being done around gene therapy for HCM, sooner or later, someone is going to be successful.  We just hope it is sooner rather than later!

HCMBeat has written several previous blog entries describing the work being in hopes of finding a a genetic cure for HCM.  They are linked below.

Gene Therapy – Is a Cure for HCM Around the Corner?

Tenaya Therapeutics Gets Go-Ahead for HCM Gene Therapy Trial

Gene Therapy – Is HCM Cure Possible?

Gene Therapy for HCM

Targeted Gene Therapy for HCM

The Future of HCM Treatment

HCM Genetics Discovery by British Researchers

The Future of HCM Care

CRISPR Eliminates HCM Gene !

Lisa Marie Presley Dies of Cardiac Arrest at Age 54

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All major news outlets reporting that Lisa Marie Presley has died this afternoon after suffering cardiac arrest at her home this morning.  She was resuscitated at home, and then transported to a local hospital where she passed away.

It has previously been reported that Elvis himself carried a HCM causing gene.   Elvis’ genetic analysis was featured in a program by U.K.’s Channel 4 Television in 2014.  Elvis’ mother also died before age 50 of a “heart attack.”

Sending deepest condolences to Priscilla Presley, daughters Riley Keough, Harper Lockwood and Finley Lockwood.

Damar Hamlin’s Cardiac Arrest Should Move America to Action

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Sudden cardiac arrest (SCA) has had a moment in the public eye this week.  The NFL game between the Cincinnati Bengals and Buffalo Bills, which was postponed after Bills safety Damar Hamlin suffered a cardiac arrest and collapsed on the field, was, according to CNN, the most-watched “Monday Night Football” telecast in ESPN history, averaging 23.8 million viewers.  

Damar Hamlin’s misfortune shined a public light on the grim reality that we as HCM patients live with every day:  the possibility we could suffer SCA at any moment without warning.

HCMBeat has written before about fellow HCM patient Lindsay Davis, who uses her platform as a former Miss Ohio to effect positive change for those with heart issues.

Lindsay pic 2022

In fact, Lindsay successfully lobbied for what is now known as “Lindsay’s Law,” which educates coaches, parents and athletes on the signs and symptoms of an underlying heart condition and removes a child with symptoms of heart disease from play until cleared by a cardiologist.

Now Lindsay has taken the opportunity to write a compelling op-ed for Newsweek about the need for cardiopulmonary resuscitation (CPR) and automatic external defibrillator (AED) training in the community. As Lindsay correctly points out, Damar Hamlin suffered a cardiac arrest in a NFL stadium surrounded by trainers, medical personnel and the most up to date equipment.  Children who play sports do not have the same  advantages. If a similar situation occurred on a school baseball diamond or a playground basketball court, it is likely that the bystanders would not be so prepared to render aid.

Some of you may know that I have been a lifelong fan of the New Orleans Saints football team. Gayle Benson, the owner of the Saints and the Pelicans, the local NBA team, did something that I hope will serve to inspire other professional teams to do for their communities. Mrs. Benson reached out and, finding there was a need, donated a total of 67 AEDs to the New Orleans Recreation Department (NORD) and the neighboring Jefferson Parish Recreation Department (JPRD).  Mrs. Benson will also provide CPR and AED training to NORD and JPRD personnel so they know what to do in the event of a cardiac arrest at their facilities.

Time is key when a person suffers a cardiac arrest.  According to the American Heart Association (AHA), 350,000 cases of cardiac arrest occur each year outside of a hospital, and the survival rate is less than 12 percent. CPR can double or triple the chances of survival.

A 2018 study highlighted on the AHA website shows the great benefit of being resuscitated by an AED following a cardiac arrest.  Read the following statistics:

  • Cardiac arrest victims who received a shock from a publicly-available AED had far greater chances of survival and being discharged from the hospital than those who did not; 66.5 percent versus 43 percent.
  • Cardiac arrest victims who received a shock from a bystander using a publicly-available AED had 2.62 times higher odds of survival to hospital discharge and 2.73 times better outcomes compared to victims who received their first  AED shock from emergency responders.
  • Victims who received an AED shock from a bystander (57.1 percent) using a publicly-available device instead of having to wait for emergency responders (32.7 percent) had near normal function and better outcomes.
  • Without a bystander using AED shock therapy, 70 percent of cardiac arrest patients either died or survived with impaired brain function (emphasis added).

More information about the chain of survival can be found on the American Heart Association website.

If you are looking for a New Year’s Resolution (or even if you aren’t!) take the time to learn CPR and learn how to use an AED today.  AEDs are so simple to use that even a 5th grader can administer properly.

And here is short video from Mayo Clinic showing how to do hands-only CPR.

And if you are a heart patient, think about getting an AED for your home.  I myself have one in my dining room.

AED dining room

Finally, I am sending out my best personal wishes to Damar Hamlin for a complete recovery. (As of this writing, he appears to be well on his way.)  

Most of all, I am sending out my sincere hope that this disturbing incident will improve the chances that the next person who suffers cardiac arrest will be lucky enough to be in the right place at the right time for complete resuscitation.

Wishing the entire HCM community a happy, and most of all a healthy, New Year. 

Cynthia Burstein Waldman  © 2023

All views expressed herein are my own.

Jardiance for HCM Patients?

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A recent study published in the American Journal of Cardiology found that patients with non-obstructive hypertrophic cardiomyopathy and diabetes showed significant improvements to diastolic heart function and BNP (a hormone produced by the body which indicates heart wall stress) from the use of a drug used for diabetes known as a sodium glucose co-transponder 2 inhibitor (SGLT2).  

This class of drugs is commonly used to lower blood sugar in diabetics.  One SGLT2 in common usage is Jardiance (empagliflozin).

Since treatments for non-obstructive HCM patients are so limited, this class of drugs presents a potential treatment opportunity for non-diabetic HCM patients as well. 

Hey all you researchers out there – sounds like a good clinical trial!

HCM Impact on Mental Health

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A recent study by Korean researchers found that HCM is associated with mental health disorders, especially during the first year after a HCM diagnosis.  

This study only scratches the surface of the topic, but it does bring up an important point which we hope that medical providers will take to heart:  the mental health of HCM patients is just as important as their physical health and sometimes, mental health referrals and/or medications may be a necessary part of the HCM treatment plan.

Myectomy: Still the Gold Standard for HOCM

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An expert panel comprised of many of the world’s top HCM experts recently published a retrospective analysis in The American Journal of Cardiology which looked at septal myectomy over the last 60 years of practice.

 Beginning with the introduction of the procedure at the National Institute of Health in the early 1960s, this paper surveys the history of the procedure until the present day.  The conclusion of the paper is that myectomy remains the best treatment for patients with obstructive hypertrophic cardiomyopathy.

Continue reading “Myectomy: Still the Gold Standard for HOCM” →

FDA Approves Mavacamten under Brand Name Camzyos

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At long last, there is a FDA approved drug specifically intended for the treatment of hypertrophic cardiomyopathy.  After several years of testing, and based on the results of the groundbreaking EXPLORER-HCM trial, Bristol Myers Squibb’s new drug mavacamten, being marketed under the brand name Camzyos, is now available to HCM patients.

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Sports and HCM – Moving Toward Shared Decision Making

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While competitive sports used to be frowned upon in the HCM literature, there is now some evidence that a patient’s risk from exercise is low when they have been implanted with an implantable cardioverter defibrillator (ICD). This feature from Medpage Today gives an overview of contemporary thinking about exercise in HCM patients.

Continue reading “Sports and HCM – Moving Toward Shared Decision Making” →

Guest Blogger Gwen Mayes, JD, MMSc – Cautiously Awaiting the Release of Mavacamten

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            Fifteen years ago, I referred myself to Mayo Clinic in Rochester, Minnesota, to be evaluated for a septal myectomy by what was at the time, one of the country’s few expert centers for the treatment of hypertrophic cardiomyopathy.   I traveled to Mayo from my native state, Kentucky, on a brief hiatus from a well-established career in health policy in Washington, DC.

Continue reading “Guest Blogger Gwen Mayes, JD, MMSc – Cautiously Awaiting the Release of Mavacamten” →