Hypertrophic cardiomyopathy

Abstract

Hypertrophic cardiomyopathy (HCM) is the most common monogenetic heart disease affecting over 1 in 500 people worldwide. The hallmark of the disease is left ventricular hypertrophy (LVH) in the absence of abnormal loading conditions that may cause hypertrophy. The disease can present at any age and is highly variable in clinical expression. Patients can remain asymptomatic throughout their life, but HCM is also associated with premature mortality from heart failure, stroke, and sudden cardiac death (SCD). Therapy is mainly directed toward relief of symptoms caused by heart failure and left ventricular outflow tract obstruction. Clinical risk stratification can identify patients at high risk for SCD and is used to select patients for preventative therapy with implantable cardioverter defibrillators. Because of the hereditary nature of the disease, first degree relatives are advised to undergo periodic cardiac evaluation for the presence of LVH. In about half of all patients, a disease causing mutation can be detected in one of the genes encoding for sarcomeric proteins. Detection of a disease causing mutation allows predictive genetic testing in relatives, and facilitates identification of relatives at risk of developing HCM and associated diseaserelated complications. Although there is no evidence of a clear benefit of early pharmacological treatment in asymptomatic relatives carrying a mutation, they can still benefit from primary prevention strategies.