Genotypic and Phenotypic Correlation Regarding Expression Level of Myosin Heavy Chain (Myh7) Gene Polymorphisms in Hypertrophic Cardiomyopathy
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Hypertrophic cardiomyopathy (HCM), where it can be seen as unexplained left ventricular hypertrophy, is the most common inherited cardiac disorder. This condition is a major cause of sudden death. The clinical phenotype is heterogeneous, and mutations in a number of sarcomeric contractile protein genes are responsible for causing HCM, which is usually inherited as an autosomal dominant trait. The mode of inheritance can differ from those of HCM caused by mutations in sarcomere genes. Detailed clinical evaluation and mutation analysis are, therefore, important in providing an accurate diagnosis in order to enable genetic counseling, prognostic evaluation and appropriate clinical management. This Review summarizes current knowledge on the genetics regarding beta myosin heavy chain gene (MYH7), disease mechanisms, and correlations between phenotype and genotype in patients with HCM.
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