Mutation In The Encoding For Cardiac Beta-myosin Heavy Chain In Chinese Families With Hypertrophic Cardiomyopathy: Arg723Gly

Objective: To study the disease-causing gene mutation in Chinese with hypertrophic cardiomyopathy(HCM),and to analyze the correlation between the genetype and phenotype.Method Five unrelated Chinese families with HCM were chosen for the study.The exon in the functional regions of the beta myosin heavy chain gene were amplified with PCR and the products were sequenced. The relation between the genetype and phenotype was analyzed.Result: One mutation was indentified in exon 20 in one family. The mutation of Arg723Gly was firstly identified in chinese,while the result of genetic test were normal in eighty controls.Conculusion : Beta-myosin heavy chain gene might be one of the main disease-causing genes in chinese with FHCM. It showed a relativly malignant phenotype: The symptoms occur earlier and poor survival prognosis.Sudden death and dilated atrial can be also found easily. All above data suggests the mutation of Arg723Gly is a malignant type.