Hypertrophic cardiomyopathy

Abstract

Hypertrophic cardiomyopathy (HCM) is a common genetic cardiomyopathy caused by mutations in genes which encode for the myofilament protein components of the sarcomere or the z-disc (Maron et al., Heart Rhythm 9(1):57-63, 2012; Konno et al., Current Opin Cardiol 25(3):205-209, 2010; Judge, JAMA 302(22):2471-2476, 2009; Maron et al., Lancet 381:242-255, 2012). It has a prevalence of 1 in 500 in the general population and is a global disease affecting patients in all continents (Maron, Am J Med 116(1):63-65, 2004) and of both genders (Olivotto et al., J Am Coll Cardiol 46(3):480-487, 2005). It is the leading cause of sudden death in young people, with an annual mortality rate of 1 % (Maron, JAMA 287(10):1308-1320, 2002). Since its first description over 50 years ago, the pathophysiology of the disease is still incompletely understood (Teare, Br Heart J 20(1):1-8, 1958). The disease is associated with tremendous heterogeneity with regard to its presentation, phenotype, and prognosis. The diagnosis for HCM is usually made clinically after symptom onset or cardiac events, but may also be found after routine 12-lead electrocardiogram (ECG), heart murmur on cardiac exam, or in family screening of probands.