Molecular Genetics of Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is a primary disease of the myocardium characterized by unexplained cardiac hypertrophy, a small left ventricle and increased left ventricular ejection fraction. HCM is the most common cause of sudden cardiac death (SCD) and a major cause of morbidity in the elderly. The prevalence of HCM is approximately 1 :500 in the young, general population and likely higher in older individuals because of age-dependent penetrance.1 There have been remarkable advances in molecular genetic studies of HCM that have potential implications in understanding the pathogenesis, early diagnosis, risk stratifications and development of new therapies.