Recommendations for HCM Depart from 2020 ACC/AHA Guidelines

A recent article by several noted HCM experts shares their recommendations for the screening and evaluation of patients with HCM using several scenarios commonly encountered in clinical practice. Notably, this paper makes several recommendations which differ from the 2020 ACC/AHA Guidelines for the Diagnosis and Treatment of Patients with Hypertrophic Cardiomyopathy (2020 Guidelines).

In particular, the article recommends:

  • Cardiac MRI with contrast upon initial evaluation, and every 3 – 5 years thereafter.  (The 2020 Guidelines recommend Cardiac MRI in certain situations, but not for all patients)
  • Genetic testing only in cases where a pathogenic or likely pathogenic mutation has been identified in a family member and in limited other circumstances (the 2020 Guidelines recommends genetic testing for all as part of the initial assessment)
  • Screening of family members 12 or older only (the 2020 Guidelines recommend screening of children of any age when genetic HCM is diagnosed in a family member and no later than puberty, in any event)
  • That HCM patients be disqualified from competitive sports. (The 2020 guidelines instead recommend a shared decision making approach).

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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.

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