Genetic basis of hypertrophic cardiomyopathy

Abstract

Hypertrophic cardiomyopathy (HCM) was the first cardiovascular disorder in which a genetic basis was identified. The disease is characterized by a marked thickening of the left ventricle and is the most common structural cause of sudden cardiac death in those aged under 35 years. HCM is primarily a disease of the sarcomere with over 250 mutations identified currently within 13 sarcomere-related genes. At present, genetic screening is available for the genes shown to cause HCM most frequently, with a mutation pick-up rate of up to 60%. Current research is focused on the identification of additional causative genes and elucidation into signaling mechanisms involved in HCM pathogenesis, as well as investigation of modifying factors that can alter the clinical phenotype in HCM. The unifying goal of these studies is to improve our understanding of disease pathogenesis in HCM, thereby facilitating the process of new diagnostic and therapeutic approaches in patients, ultimately leading to disease prevention and possible curative treatment.