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Molecular Genetic Basis of Hypertrophic Cardiomyopathy:
Author(s) -
MARIAN ALI J.,
ROBERTS ROBERT
Publication year - 1998
Publication title -
journal of cardiovascular electrophysiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.193
H-Index - 138
eISSN - 1540-8167
pISSN - 1045-3873
DOI - 10.1111/j.1540-8167.1998.tb00871.x
Subject(s) - hypertrophic cardiomyopathy , myh7 , medicine , cardiology , troponin , sudden cardiac death , sudden death , mutation , troponin complex , muscle hypertrophy , phenotype , myh6 , myosin , cardiomyopathy , genetics , gene , heart failure , myosin light chain kinase , biology , actin , microbiology and biotechnology , myocardial infarction
Genetics of SCD in HCM. Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease caused by mutations in sarcomeric proteins. The disease is characterized by left ventricular hypertrophy in the absence of an increased external load, and myofibrillar disarray. A large number of mutations in genes coding for the β‐myosin heavy chain (β‐MyHC), cardiac troponin T (cTnT), cardiac troponin I, α‐tropomyosin, myosin binding protein C (MyBP‐C), and myosin light chain 1 and 2 in patients with HCM have been identified. Genotype‐phenotype correlation studies have shown that mutations carry prognostic significance. The Gly 256 Glu, Val 606 Met, and Leu 908 Val mutations in the μ‐MyHC are associated with a benign prognosis. In contrast, Arg 403 Gln, Arg 719 Trp, and Arg 453 Cys mutations are associated with a high incidence of sudden cardiac death (SCD). Mutations in cTnT are associated with a mild degree of hypertrophy, but a high incidence of SCD. Mutations in MyBP‐C are associated with mild hypertrophy and a benign prognosis. However, it has become evident that factors other than the underlying mutations, such as genetic background and possibly environmental factors, also modulate phenotypic expression of HCM.