Familial hypertrophic cardiomyopathy.
Familial hypertrophic cardiomyopathy (FHC) is a cardiomyopathy that occurs in 0.2% of the general population. It is characterized by asymmetrical hypertrophy of the ventricle, predominantly the intraventricular septum. FHC is caused by genetic mutations in several of the sarcomeric proteins, such as myosin heavy chain, troponin T, troponin I, alpha-tropomyosin, essential and regulatory light chains of myosin, and the cardiac myosin-binding protein C. FHC is genetically heterogeneous, and, therefore, it is associated with a very diverse clinical presentation in terms of altered cardiac structure and clinical manifestations. The most severe manifestation is sudden death. The purpose of this article is to provide the reader with new insights into the genetic mutations that give rise to FHC and to discuss risk factors that are associated with severe hypertrophy and sudden death in this population.
Piano
M R
MR
Department of Medical-Surgical Nursing, University of Illinois, Chicago, USA.
D000465:Algorithms; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000517:prevention & control; D016757:Death, Sudden, Cardiac / Q000209:etiology; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000473:pathology; D005820:Genetic Testing; D006801:Humans; D009124:Muscle Proteins / Q000235:genetics; D017354:Point Mutation / Q000235:genetics; D012307:Risk Factors; D012518:Sarcomeres / Q000235:genetics
D009124:Muscle Proteins