More than 450 different mutations within 13 myofilament-related genes have been identified as causative for hypertrophic cardiomyopathy, an autosomal dominant inherited cardiac disorder.
This review summarizes the genetic basis of hypertrophic cardiomyopathy, including the discovery of causative genes, mechanisms of hypertrophy and arrhythmia, and clinical implications.
Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac disorder that characterized by marked thickening of the left ventricular wall that occurs in the absence of increased external load. HCM is the most common cause of sudden cardiac death under 35 years and in addition causes heart failure. HCM is usually inherited as an autosomal dominant mutation in genes that encode protein constituents of the sarcomere. To date, more than 450 different mutations have been identified within 13 myofilament-related genes. This review focuses current research involved in the discovery of other causative genes, investigation of the mechanisms by which sarcomere genes mutations produce hypertrophy and arrhythmia, and identification of modifying factors that influence clinical expression in HCM patients. The clinical implications of molecular advances in HCM are discussed.
Alcalai et al. (2007) conducted a review in Hypertrophic cardiomyopathy (HCM). More than 450 different mutations within 13 myofilament-related genes have been identified as causative for hypertrophic cardiomyopathy, an autosomal dominant inherited cardiac disorder.