Genetic basis of hypertrophic cardiomyopathy

The understanding of hypertrophic cardiomyopathy (HCM) has matured from its cornerstone as a disease of the sarcomere to a compendium of diseases with various clinical, genetic and morphologic substrates. Research has provided us more insights into i) the pathogenetic development of HCM, ii) the possible pro-hypertrophic pathways that are triggered, and iii) the modifiers that influence the disease phenotypes. These findings have opened the door for individualized medicine and the development of therapeutic trials aimed at disease prevention or slowing of disease progression in patients with genotype positive, hypertrophy negative HCM. However, far more research is needed to understand its exact pathogenic pathways, discover novel drug targets or understand and prevent its devastating feature of sudden cardiac death.