Adult ; Aged ; Alcohol Drinking ; China ; ethnology ; Fatty Liver, Alcoholic ; etiology ; Female ; Humans ; Male ; Middle Aged ; Surveys and Questionnaires

OBJECTIVETo detect gene mutations on beta-myosin heavy chain gene MYH7 in 3 Chinese families with hypertrophic cardiomyopathy (HCM), and to analyze the correlation between genotype and phenotype.

METHODSA denaturing high-performance liquid chromatography (DHPLC) and sequencing mutation screening of the exons (exon3-23) coding for MYH7 gene were performed in 3 Chinese families with HCM.

RESULTSIn this study, we identified several mutations in MYH7. A mutation of Thr441Met previously reported in a patient with Laing distal myopathy was first identified in one Chinese pedigree.

CONCLUSIONThis study illustrated the high frequency of mutation in MYH7 gene in Chinese HCM families. Different mutations and carriers of the MYH7 gene present phenotypic heterogeneity. Mutation screening and analysis in HCM family could therefore facilitate the early HCM diagnosis and would be helpful for the prediction, prevention and early treatment of HCM linked with MYH7 gene mutation.

Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; Cardiac Myosins ; genetics ; Cardiomyopathy, Hypertrophic, Familial ; genetics ; Case-Control Studies ; Child ; DNA Mutational Analysis ; Exons ; Female ; Genotype ; Humans ; Male ; Middle Aged ; Mutation ; Myosin Heavy Chains ; genetics ; Pedigree ; Phenotype ; Young Adult