%0 Journal Article
%T TNNT2基因突变致肥厚型心肌病的临床特点及预后分析
%A 陆敏杰　吴桂鑫　张禅那　王东　刘婕　宋雷
%J -
%D 2020
%R 10.13362/j.jpmed.202001002
%X 摘要 目的　既往的研究提示TNNT2基因突变导致肥厚型心肌病（HCM）患者容易发生心源性猝死（SCD），本研究旨在明确中国HCM患者TNNT2基因突变谱及TNNT2基因突变阳性患者的临床表型及预后特点。 方法　采用全外显子测序及panel二代测序对1 418例HCM患者进行致病基因筛查，分析携带TNNT2基因突变患者的临床表型；并结合长期随访结果，分析其预后特点。 结果　基因检测共发现47例（3.3%）HCM患者携带27个TNNT2致病基因突变。与未携带TNNT2基因突变的患者相比，携带TNNT2基因突变的患者的左心房内径更大（t=2.13,P＜0.05），最大左心室流出道压差更低（t=－3.69,P＜0.05)，且心脏磁共振检查呈弥漫性纤维化的比例更高（χ2=4.94，P＜0.05）。在随访期间，携带TNNT2基因突变的患者共出现4例心血管病死亡，其中1例为SCD，2例为心力衰竭相关性死亡，1例为缺血性卒中后死亡。携带TNNT2基因突变的患者发生心血管病死亡的风险与未携带TNNT2基因突变的患者相比差异无显著性（P=0.57）。 结论　中国HCM患者TNNT2基因突变阳性率约为3%，携带TNNT2基因突变的HCM患者的预后与未携带TNNT2基因突变患者相比差异无显著性。TNNT2基因突变不能作为HCM患者危险分层的危险因素。<br>Abstract：Objective　To investigate the spectrum of TNNT2 gene mutation in Chinese patients with hypertrophic cardiomyopathy (HCM) and the clinical phenotype and prognosis of patients with positive TNNT2 gene mutation, since previous studies have shown that patients with HCM caused by TNNT2 gene mutation tend to experience sudden cardiac death (SCD). Methods　A total of 1 418 HCM patients were enrolled and whole exome sequencing and panel next-generation sequencing were used for the screening for pathogenic genes. The clinical phenotype of the patients carrying TNNT2 gene mutation was analyzed, and prognostic features were analyzed based on the results of long-term follow-up. Results　Gene detection showed 27 pathogenic mutations of the TNNT2 gene in 47 (3.3%) HCM patients. Compared with the patients without TNNT2 mutations, the patients with TNNT2 mutations had a significantly larger left atrial diameter (t=2.13,P<0.05), a significantly lower maximal left ventricular outflow tract gradient (t=-3.69,P<0.05), and a significantly higher proportion of patients with diffuse fibrosis on cardiac magnetic resonance (χ2=4.94,P<0.05). Among the patients with TNNT2 mutations,4 died due to cardiovascular diseases during follow-up, among whom 1 experienced SCD,2 experienced heart failure, and 1 died after ischemic stroke. There was no significant difference in the risk of cardiovascular death between the patients with TNNT2 mutations and those without such mutations (P=0.57). Conclusion　The positive rate of TNNT2 gene mutation is about 3% in Chinese HCM patients, and there is no significant difference in prognosis between HCM patients with TNNT2 gene mutation and those without such mutation. TNNT2 mutations cannot be regarded as a risk factor for risk stratification in HCM patients
%K 心肌病
%K 肥厚性
%K 肌钙蛋白T
%K 突变
%K 表型
%K 危险因素
%K 预后<br>Cardiomyopathy
%K hypertrophic
%K Troponin T
%K Mutation
%K Phenotype
%K Risk factors
%K Prognosis
%U http://jpmed.qdu.edu.cn/CN/10.13362/j.jpmed.202001002