title: Cardiomyopathy: molecular and immunological aspects (review).
abstract: Idiopathic cardiomyopathy is reviewed from molecular standpoint. About a half of all patients with hypertrophic cardiomyopathy show intra-familial occurrence. In familial hypertrophic cardiomyopathy, nine gene abnormalities have been discovered in the sarcomere, i.e. the genes of beta cardiac myosin heavy chain, cardiac troponin T, alpha-tropomyosin, cardiac myosin binding protein-C, essential or regulatory myosin light chain, cardac troponin I, alpha-cardiac actin, and titin. Sudden death can occur in patients with familial-type hypertrophic cardiomyopathy with abnormalities of the cardiac troponin T or troponin I gene, even if hypertrophy is not marked. Some cases of familial dilated cardiomyopathy show gene abnormalities for cytoskeletal components such as desmin and laminin A/C. Mutations of the delta-sarcoglycan gene have also been discovered in familial or sporadic dilated cardiomyopathy. Mutations in mitochondrial genes have been observed in both hypertrophic and dilated cardiomyopathy. It is postulated that chronic viral myocarditis may sometimes lead to dilated cardiomyopathy, and hepatitis C virus is also thought to be an etiological factor. Immunological abnormalities have also been reported, such as autoantibodies against myosin, beta-receptors, ADP/ATP carrier proteins.
authors.affiliation: Department of General Medicine, Aoto Hospital, Jikei University School of Medicine, Tokyo, Japan. ntakeda@jikei.ac.jp
authors.forename: Nobuakira
authors.initials: N
authors.lastname: Takeda
mesh_terms: D009202:Cardiomyopathies / Q000235:genetics* / Q000276:immunology*; D002311:Cardiomyopathy, Dilated / Q000235:genetics / Q000276:immunology; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics / Q000276:immunology; D002874:Chromosome Mapping; D004272:DNA, Mitochondrial / Q000235:genetics; D016174:Hepacivirus / Q000472:pathogenicity; D006801:Humans; D009154:Mutation
chemical_list: D004272:DNA, Mitochondrial