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).

A positive note:  according to these experts, only 10% of HCM patients will experience more than one clinical profile (set forth below) during their lifetimes.

The profiles are:

1. Stable, benign HCM without the need for a major intervention;
2. Left ventricular outflow obstruction (obstructive HCM or HOCM) with heart failure symptoms which qualify the patient for septal reduction therapies;
3. Increased risk of sudden death with a potential need for an implantable defibrillator;
4. Atrial fibrillation with increased risk of stroke and need for anticoagulation; and
5. Non-obstructive end stage (also called burned out) disease, in need of advanced heart failure therapies.

Note:  this paper omitted discussion of myosin inhibitors – the new class of drugs specifically intended for the treatment of HCM such as the recently FDA approved mavacamten and aficamten, currently the subject of a Phase 3 clinical trial.