中文摘要：

目的通过分析携带MYH7基因Ile736Thr突变的肥厚型心肌病（HCM）患者的临床表现,探索HCM致病基因基因型与临床表型的关系。方法通过panel二代测序在HCM患者中筛查8个编码肌小节蛋白的基因,发现的突变经Sanger测序验证后,分析突变基因型与患者临床表型的关联。结果我们在529例患者中,发现4（0.8%）例患者携带MYH7基因Ile736Thr错义突变。4例患者均有呼吸困难的症状,但患者患病年龄跨度大,从33岁到77岁不等。而且患者的预后情况差异大,其中2例患者发生猝死,1例患者出现心力衰竭,而另1例患者预后良好。结论 MYH7基因Ile736Thr突变在中国肥厚型心肌病患者中相对常见,此突变携带者的临床表型存在异质性,提示其他因素影响HCM的临床表型。

英文摘要：

Objective To explore the correlation between in genotype and phenotype in hypertrophic cardiomyopathy（HCM） patients carrying Ile736 Thr mutation in MYH7 gene. Methods A cohort of 529 Chinese HCM and 307 healthy controls were sequenced for eight sarcomere-protein genes by panel sequencing. Results We identified a missense mutation, Ile736 Thr, in MYH7 gene in four（0.8%） HCM patients. All four patients manifested dyspnea, and the age of HCM onset ranged from 33 to 77 years old. The spectrum of prognosis has significant diversity, from stable condition to sudden cardiac death. Conclusions The Ile736 Thr mutation in MYH7 gene is relatively common in Chinese HCM. The heterogeneity of phenotype indicated that multiple factors are involved in the pathogenesis of HCM.