HIGHLIGHTS FROM THE INTERNATIONAL HCM SUMMIT VI, PART I

**Because so much HCM information was presented at the Summit, this will be the first of multiple blog entries.  Stay tuned to HCMBeat for more highlights from the HCM Summit.  You will find Part II of this series by clicking here.**

The 6th International HCM Summit was held October 27, 28 and 29th in Boston, Massachusetts.  This symposium brings together HCM professionals from around the world who are there to learn about and discuss the latest developments in the treatment of HCM.

The symposium was organized by long time HCM expert Dr. Barry Maron and his son, Dr. Martin Maron.  Both Marons are now affiliated with Tufts Medical Center’s Hypertrophic Cardiomyopathy Center.

What follows are summaries from selected talks presented at the meeting.  The presenter and their hospital affiliation are noted below, along with the topic of their presentation.  When possible, you may access the presenters’ slides via hyperlink by clicking on the name. (Note that not all presenters made their slides available).

Dr. Barry Maron (Tufts Medical Center – Boston. MA) – Introduction to HCM

  • HCM is a common genetic condition which may present quite differently in each affected individual.  The condition may be as prevalent in the general population as 1 in 200 people.
  • While in the past, the disease had been thought to be quite serious with a poor prognosis, with today’s treatments and interventions, the condition is quite treatable.  Most affected patients will have a normal life expectancy without the need for major interventions.  The current disease mortality rate is less than 1% a year.

Dr. Christine Seidman – (Brigham and Women’s Hospital -Boston, MA) – HCM Genomics:

  • Even before hypertrophy of the heart develops, the HCM heart shows hyper-dynamic contraction, impaired relaxation and increased energy demands.
  • The mechanisms for these traits have been recently identified, providing scientists with a new approach which provides a therapeutic benefit to HCM hearts and allows for a decrease in activity in the cardiac myosin.  This mechanism provides the underpinning for the new drug Mavacamten developed by MyoKardia.

Dr. Christopher Semsarian- (University of Sydney – Australia) – Genetic Testing:

  • Genetic testing is tool that is most useful for screening family members of an affected HCM individual.  Those who screen genetically negative may avoid life-long clinical surveillance in the future.
  • 40% of HCM patients have no family history of HCM and negative HCM genetic testing results. These patients tend to be older, have hypertension and will have a better clinical outcome than those with familial HCM.
  • Interpretation of genetic testing results is very complex and requires
    careful analysis.  This is best done by HCM genetic experts who have the training and expertise to interpret what are often complex results.

Dr. Michelle Michels -Erasmus Medical Center, Rotterdam, The Netherlands – Gene Positive HCM – Is it a Disease?

  • Because the risk of cardiac events is low, the emotional toll of potential HCM is real, and the number of individuals who will go on to develop overt HCM is uncertain, physicians should exercise caution and not treat gene positive/phenotype negative individuals as “sick” before they have actually developed the disease.
  • Gene positive/phenotype negative individuals will likely face negative consequences as a result of a premature diagnosis which may include such things s exclusion from competitive sports and difficulty obtaining health, disability and life insurance.
  • Diastolic or filling abnormalities are one of the first signs of HCM.  More research is needed to understand other early HCM mechanisms including elongated mitral valve leaflets, metabolic changes and pro-fibrotic changes in the heart.

Dr. Ethan Rowin – Tufts Medical Center – Cardiac MRI and HCM Diagnosis

  • MRI is a valuable tool in HCM diagnosis and treatment.  In particular, it is valuable for HCM family screening since it can better detect subtle changes which may be present in pre-clinical HCM.
    • It is more accurate than echocardiograms at measuring septal and wall thicknesses;
    • It can identify left ventricular outflow tract abnormalities such as blood-filled crypts in the heart muscle, elongated mitral valve leaflets and late gadolinium enhancement indicative of scarring;
    • It can also help identify a subset of HCM patients with left ventricular apical aneurysms who are at increased risk of stroke and sudden cardiac arrest.

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