Screening of MYH7 gene mutation sites in hypertrophic cardiomyopathy and its significance

摘要

There have been few reports of mutations in the beta-myosin heavy chain ( ) gene in hypertrophic cardiomyopathy (HCM), which is associated with sudden cardiac death caused by HCM. This study aimed to screen the mutation sites in the sarcomeric gene in Chinese patients with HCM. We also planned to analyze the pathogenicity of the mutation site as well as its significance in clinical and forensic medicine.