Abstract【Objective】 To investigate the mutation site of the main pathogenic gene MYH7(beta-myosin heavy chain gene) in Chinese Han family with familial hypertrophic cardiomyopathy (HCM), and to analyze the correlation between their genotype and clinical phenotype. 【Methods】 A total of 9 families suffering from HCM were chosen for the study. The exons in the functional regions of the beta myosin heavy chain gene were amplified with PCR and the products were sequenced, including TNNT2,MYBPC3,MYH7,TNNI3.The identified mutations were further detected through bidirectional Sanger sequencing in all family members and 60 healthy volunteers. Pedigree analysis included physical examination, clinical symptoms, electrocardiography (ECG), echocardiography(UCG) and 3.0T cardiac magnetic resonance (CMR), and regular outpatient visits or telephone follow-up. 【Results】 The Lys847del mutation in exon 22 of beta-myosin heavy chain gene was found in one family. However, no abnormality was observed in the same position in all healthy volunteers In this family, beside the proband showed Lys847del mutation, his mother and his daughter carried the same mutation of exon 22 in MYH7 gene. The mother of the proband was diagnosed as HCM following family screening and daughter did not meet the diagnostic criteria for HCM. 【Conclusion】 The Lys847del mutation in exon 22 of MYH7 may be the pathogenic mutation gene of familial HCM in China. Patients with hypertrophic cardiomyopathy with this mutant genotype may present a similar clinical phenotype.
2018, Vol. 35 
