Hypertrophic Cardiomyopathy

Abstract

Hypertrophic cardiomyopathy (HCM) is the most common monogenic heart disease affecting at least 1 in 500 people worldwide. The hallmark of the disease is left ventricular hypertrophy in the absence of cardiac or systemic disease that may cause hypertrophy. The disease can present at any age and is highly variable. Patients can remain asymptomatic throughout their life, but HCM is also associated with adverse clinical events, like heart failure, stroke, and sudden cardiac death (SCD). Therapy is mainly directed toward relieving symptoms of heart failure and left ventricular outflow tract obstruction. Risk stratification with clinical risk markers can identify patients at high risk for SCD. In these patients, prevention of SCD is effective with an implantable cardioverter defibrillator. Because of the hereditary nature of the disease, first-degree relatives are advised to undergo periodic cardiac evaluation for the presence of HCM. In about half of the HCM patients, a disease-causing variant can be detected in one of the genes encoding for sarcomeric proteins. Detection of a disease-causing variant allows predictive genetic testing in relatives and can thus better identify the relatives at risk for HCM and associated SCD.