Spectrum Of Mutations In β-MHC, CTnT And CTnI Genes In Chinese Hypertrophic Cardiomyopathy And Genotype-Phenotype Correlation Analysis

Hypertrophic cardiomyopathy (HCM) is a disease characterized by unexplained left and/or right ventricular hypertrophy, which is usually asymmetric and the interventricular septum is most commonly affected. Its typical morphological changes include myocyte hypertrophy and disarray. Its clinical manifestations are chest pain, dyspnea, syncope, arrhythmia and heart failure. Sudden cardiac death (SCD) is the prominent characteristics of HCM, and clinical data show that HCM is the important cause of SCD in young people. The molecular genetics studies have indicated that at least 60～70 percent HCM patients are caused by gene mutations, which are transmitted as an autosomal dominant trait called familial hypertrophic cardiomyopathy (FHCM).Thirteen genes have been reported to be related to HCM so far: The β-myosin heavy chain (β-MHC) is the earliest and the most common disease gene of HCM. About 35～50% of HCM patients carry mutations in their β-MHC gene. In terms of the study of Caucasian, the cardiac troponin T (cTnT) is the relevant gene of high SCD risk, and the cardiac troponin I (cTnI) is the gene responsible for the special apical hypertrophic cardiomyopathy. About 15% HCM patients have cTnT gene mutation and 5% have cTnI gene mutation. These mutations are closely related to the clinical manifestations according to the molecular genetics and clinical medicine studies, so it is important and necessary to study the genotype-phenotype correlation for the diagnosis of HCM. In addition, the genotype-phenotype and race relationship study is growing more and more...