Share Registry Study Focuses on So-Called “End Stage” HCM

Researchers from the Sarcomere Human Cardiomyopathy Registry (or the acronym “SHaRe” for short) have again joined forces to look at a subset of hypertrophic cardiomyopathy (HCM) patients who have what is known as “end stage” HCM.  This term, which is a bit of a misnomer, is used to describe patients who experience left ventricular systolic dysfunction (LVSD) which occurs when the left ventricular ejection fraction (LVEF) is less than 50%.

According to the study published last week in the journal Circulation, of a total of 6,793 HCM patients included in the study, 553 or 8% fell into this category.   The paper goes on to highlight some important observations about patients that fall into this category which are highlighted below.


Predictors of HCM with Left Ventricular Systolic Dysfunction:

  • increased left ventricular cavity size and wall thickness
  • ejection fraction of between 50-60% (notably, patients with low normal ejection fractions were approximately 3 times more likely to develop left ventricular systolic dysfunction)
  • the presence of late gadolinium enhancement on cardiac magnetic resonance imaging
  • the presence of a HCM gene, particularly if located inside the thin filament genes


Factors Justifying More Aggressive Treatment for Patients with LVSD Include:

  • multiple HCM gene mutations
  • atrial fibrillation
  • a left ventricular ejection fraction lower than 35%.


Important Takeaways From this Study:

  • Patients with “end-stage” HCM do not all follow the same course.  Many of the patients in this study reported no serious events for many years following their decline in ejection fraction. Thus, the term “end-stage” does not accurately reflect the majority of patients.  Further research is necessary to better understand this subset of HCM patients.
  • Since patients with left ventricular ejection fractions of between 50 and 59% are at heightened risk for developing end stage disease, they should be closely followed by their HCM team.
  • This study found that post-myectomy patients may have a higher incidence of end stage disease.  Hence, the authors suggest that patients who have undergone septal reduction therapy, especially younger patients with one or more HCM gene mutations, continue to be closely monitored by their HCM team.


Another informative article focusing on the different stages and treatments for HCM can be found here.

Overweight HCM Patients Fare Worse

This week, researchers from the eight HCM centers comprising the Sarcomeric Human Cardiomyopathy Registry [SHARE Registry] published a paper that every HCM patient should take to heart.

The sobering findings are that overweight HCM patients have a higher incidence of obstruction, heart failure and atrial fibrillation than their normal weight counterparts. As a result of this study, the researchers suggest heightened attention to weight management and exercise in order to prevent disease-related progression and complications.

Continue reading “Overweight HCM Patients Fare Worse”

HCM Researchers Put their Heads Together to Improve Lives of HCM Patients

A recent paper published in the journal Circulation looked at the clinical course of approximately 4,600 HCM patients over the course of more than 24,000 clinical years, which the paper describes as the largest comprehensive cohort of HCM patients ever studied.

This study examined patients from eight high volume HCM centers which aggregated their institutional data into a database known as the Sarcomere Human Cardiomyopathy Registry (or the acronym the “SHaRe” for short). The results of the study showed that, in general, HCM patients are at substantially elevated risk for atrial fibrillation and heart failure, and have significantly higher mortality rates than that of the general U.S. population.

Continue reading “HCM Researchers Put their Heads Together to Improve Lives of HCM Patients”

Greater Certainty in Genetic Testing Results at HCM Specialty Centers

A recent study published by members of the SHaRe Cardiomyopathy Registry found that genetic test results for HCM are more definitive and helpful to patients when testing has been carried out at a high volume HCM center – especially a center that shares genetic data with other HCM centers. 

Continue reading “Greater Certainty in Genetic Testing Results at HCM Specialty Centers”

Guest Blogger – When a Seizure is not a Seizure – by Wendy Borsari

It’s strange to think that a chaotic arrhythmia in the heart might actually appear to be a seizure caused by something that has gone haywire in the brain, but with sudden cardiac arrest (SCA) this can sometimes happen.

This is the true story of what happened to my daughter.

Continue reading “Guest Blogger – When a Seizure is not a Seizure – by Wendy Borsari”