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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。
Objective To explore the relationship between HCM genotypes and clinical phenotype by analyzing the clinical manifestations of patients with hypertrophic cardiomyopathy (HCM) carrying the Ile736Thr mutation of MYH7 gene. Methods Eight genes coding for the protein of the muscle segment were screened by panel second-generation sequencing in HCM patients. The mutations identified were verified by Sanger sequencing and the association between the mutant genotype and the patient’s clinical phenotype was analyzed. Results We found in 4 of 529 patients that 4 (0.8%) of the patients carried the missense mutation of the MYH7 gene Ile736Thr. All 4 patients had symptoms of dyspnea, but their age ranged from 33 to 77 years old. And the prognosis of patients with large differences, including 2 cases of sudden death, 1 case of heart failure, while the other 1 patients with good prognosis. Conclusion The MYL7 gene Ile736Thr mutation is relatively common in patients with hypertrophic cardiomyopathy in China. The clinical phenotype of this mutant carrier is heterogeneous, suggesting that other factors may affect the clinical phenotype of HCM.