hypertrophic cardiomyopathy – Page 2

Weight Loss Improves HCM

Published on March 15, 2023 by hcmbeat1 Comment

Researchers at New York University’s Langone Health published a recent paper reporting on 6 patients who lost a significant amount of weight (at least 18 lbs.) and who had undergone cardiac MRI or CT scans before and after the weight loss.

The researchers found that following weight loss, the scans showed a decrease to the dimensions of the left ventricle, and the patients experienced improvement to their symptoms.

The researchers suggest that while more study is needed, weight loss can benefit overweight patients and may be especially helpful to those who have limited treatment options.

Exercise and HCM: Not Enemies Anymore

Published on March 8, 2023 by hcmbeat1 Comment

Lots of good news for active HCM patients was presented at last weekend’s 23rd Annual American College of Cardiology Scientific Sessions.

The long-awaited results of the LIVE-HCM study were presented, and the results were quite reassuring for HCM patients who are vigorous exercisers.

This study followed 1534 HCM patients between the ages of 8 and 60,. Most participated in various forms of exercise over the three year period of the study, such as running, swimming and basketball. The study also included 126 participants who carried a gene associated with HCM, but did not show overt signs of the disease. 42% of study participants exercised vigorously, 43% exercised moderately, and 16% were not active.

Contrary to an older school of thought which cautioned against vigorous exercise in HCM patients, the results of the study showed NO increase in cardiac arrests, ventricular arrhythmia or fainting among the vigorous exercisers, disproving the long held assumption that vigorous exercise was dangerous for patients with hypertrophic cardiomyopathy. Also, the study found no cardiac events occurring among the group who only carried a gene for HCM but did not have the disease.

According to Dr. Rachel Lampert of the Yale School of Medicine who was the lead investigator of the study, the data from this study “does not support restriction of vigorous exercise for individuals with HCM.” Dr. Lampert also spoke about the benefits to health of exercise in general, and the need for shared decision-making between HCM patients and experienced HCM physicians when making decisions around exercise.

You can see this video of Dr. Lampert talking about the LIVE-HCM study.

And in other good news for HCM athletes, another paper supportive of competitive sports in patients with genetic heart disease was presented at ACC23. This presentation showed that 95% of competitive athletes who played at the Division 1 or professional level who elected to return to play after being diagnosed with a genetic heart disease did not experience cardiac events such as fainting, seizures, ICD shocks, sudden cardiac arrests or sudden cardiac death. Again, focusing on the need for shared decision-making and risk stratification with an expert, the researchers believe that with a comprehensive return-to-play protocol including a personal AED, annual follow-ups and continued risk evaluation, together with coordination with team and/or organization medical staff, a return to competitive sports may be possible.

Comprehensive risk assessment, combined with shared decision making around the decision to participate in sports, seems to be the way of the future. It is an important concept that was included and discussed in the 2020 ACC/AHA Guidelines for the Diagnosis and Treatment of HCM and represents an important advance for patients.

New Technology May Find Early Signs of HCM

Published on March 3, 2023 by hcmbeat2 Comments

A recent paper published in Nature Reviews Cardiology shows how new advances in Cardiac MRI and biomarkers identified through blood testing may help to identify subclinical HCM before overt signs are evident.

This information could be used to intervene before patients ever develop overt signs of disease. Newer medications or experimental gene therapies have the potential to prevent the condition from ever developing.

These modalities would be useful when screening relatives of HCM patients and/or in people known to carry a gene for HCM.

Times of London Shines Light on HCM

Published on February 22, 2023 by hcmbeat2 Comments

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 !

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

Published on February 19, 2023 by hcmbeat2 Comments

Two different papers published in the newest issue of Nature focus on experimental gene therapies to potentially repair the genes that cause hypertrophic cardiomyopathy. This research even caught the eye of Dr. Eric Topol, a prominent cardiologist at the Scripps Institute whose focus on genetics and digital technologies aims to change the future of medicine.

Researchers in the first study were able to correct pathogenic HCM mutations in an MYH7 gene. This was done both in cardiomyocytes (the cardiac cells which cause the heart to contract) derived from human pluripotent stem cells, as well as in mice with human-like HCM mutations.

The second study used two different genetic therapies to prevent HCM caused by the R403Q mutation in more than 70% of cardiomyocytes carrying the mutation.

The researchers hope that these findings will soon allow scientists to treat patients who carry an HCM gene BEFORE the disease actually develops, thereby interrupting the cycle and preventing the disease

It would be very exciting to see a clinical trial testing this technology. These therapies show great promise for our children and grandchildren.

Lisa Marie Presley Dies of Cardiac Arrest at Age 54

Published on January 12, 2023January 12, 2023 by hcmbeatLeave a comment

Very sad update to the news about Lisa Marie Presley. RIP. This family has had far too much grief.

HCM Beat

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.

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Lisa Marie Presley Dies of Cardiac Arrest at Age 54

Published on January 12, 2023January 12, 2023 by hcmbeat2 Comments

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

Tenaya Therapeutics Gets Go-Ahead for HCM Gene Therapy Trial

Published on January 10, 2023 by hcmbeat2 Comments

Tenaya Therapeutics announced on Monday that they have received FDA clearance to begin a Phase 1 clinical trial of targeted gene therapy for HCM.

Tenaya is developing TN-201, a first in class adeno-associated virus based therapy being developed to treat HCM caused by mutation(s) in the MYBPC3 gene. They anticipate that the trial will begin in the third quarter of 2023. The therapy delivers one fully functional MYBPC3 gene to the patient via injection with a deactivated virus. Tenaya hopes that this therapy will restore normal levels of the MYBPC3 protein, thereby halting disease progression, and even potentially reversing the course of the disease, after just a single treatment.

The TN-201 Phase 1b clinical trial will be a multi-center, open-label study designed to assess the safety of an intravenous infusion of TN-201. They hope to enroll at least 6 symptomatic, non-obstructive HCM patients who carry the MYBPC3 gene and who already have received an automatic implantable cardioverter defibrillator (ICD) as part of their treatment plan to date.

You can read the full press release here.

Stay tuned to HCMBeat for updates!

Damar Hamlin’s Cardiac Arrest Should Move America to Action

Published on January 7, 2023January 7, 2023 by hcmbeatLeave a comment

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.

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.

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.

All views expressed herein are my own.

Results Published from REDWOOD-HCM Phase 2 Trial

Published on January 4, 2023January 3, 2023 by hcmbeat3 Comments

Results from Cytokinetics’ REDWOOD-HCM Phase 2 clinical trial of the experimental drug aficamten were just published in the Journal of the American College of Cardiology.

Aficamten, a second generation myosin inhibitor, was administered to a small group of 28 patients as part of a phase 2 trial to determine safety of the drug of the drug in obstructive HCM over a 10 week period.

No safety issues were found, while most trial participants experienced substantial reductions in left ventricular outflow tract gradients. Study participants also reported improvement to their symptoms, while blood tests showed improvement to certain biomarkers of heart stress.

You can read more about the drug aficamten and Cytokinetics, the company behind it, in the below posts on HCMBeat. Next for aficamten is the Phase 3 trial entitled SEQUOIA-HCM.