MYH7基因Arg453Cys突变及TNNT2基因Arg102Trp突变所致肥厚型心肌病的临床表型分析  

Clinical Phenotypic Analysis of Hypertrophic Cardiomyopathy Caused by MYH7 Gene Arg453Cys Mutation and TNNT2 Gene Arg102Trp Mutation

作　　者：刘超 陆敏杰 张禅那 王继征 LIU Chao;LU Minjie;ZHANG Channa;WANG Jizheng(State Key Laboratory of Cardiovascular Disease,Fuwai Hospital,National Center for Cardiovascular Disease,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100037,China)

机构地区：[1]中国医学科学院、北京协和医学院阜外医院心血管疾病国家重点实验室,北京市100037

出　　处：《中国分子心脏病学杂志》2023年第4期5483-5487,共5页Molecular Cardiology of China

基　　金：国家自然科学基金(82170290)。

摘　　要：目的分析携带MYH7基因Arg453Cys突变及TNNT2基因Arg102Trp突变的肥厚型心肌病(hypertrophic cardiomyopathy,HCM)患者的临床表型及预后特点。方法在接受过全外显子组测序的986例HCM患者中,分析携带上述两个突变的HCM患者的临床表型特点,并通过随访分析预后。结果在986例HCM患者中发现6例(0.6%)患者携带MYH7基因Arg453Cys突变,患者平均诊断年龄为(24.3±7.5)岁,发病年龄较小;随访过程中5例出现病情进展,其中2例出现心血管死亡。986例HCM患者中发现3例(0.3%)患者携带TNNT2基因Arg102Trp突变,均表现为轻度肥厚,平均左心室最大室壁厚度(left ventricular maximum wall thickness,LVMWT)为(17.33±2.05)mm;2例出现病情恶化,1例因心力衰竭死亡。结论MYH7基因Arg453Cys突变和TNNT2基因Arg102Trp突变在我国HCM患者中相对常见,虽然携带突变的患者临床表型异质性较大,但发生心血管死亡的风险较高。Objective To explore the phenotype and prognosis of patients with hypertrophic cardiomyopathy(HCM)caused by Arg453Cys mutation in MYH7 gene or Arg102Trp mutation in TNNT2 gene.Methods HCM patients with the above two mutations were collected from a total of 986 Chinese patients who were sequenced by whole exome sequencing.The clinical phenotypic characteristics of patients with HCM caused by these mutations were analyzed,and the prognosis were analyzed by follow-up.Results A total of 6(0.6%)out of 986 patients with HCM were found to carry the Arg453Cys mutation in MYH7 gene.The average age of diagnosis was(24.3±7.5)years old,and the onset age was young.During the follow-up,5 patients presented with disease progression and 2 of them suffered from cardiovascular death.The Arg102Trp mutation in TNNT2 gene were identified in 3(0.3%)of these HCM patients.All of these 3 patients manifested mild hypertrophy,with an average left ventricular maximum wall thickness(LVMWT)of(17.33±2.05)mm.Two of them experienced disease progression,including one heart failure-related death.Conclusion The Arg453Cys mutation in MYH7 gene and the Arg102Trp mutation in TNNT2 gene are relatively common among Chinese HCM patients.Although the patients with these mutations have high clinical heterogeneity,they have a higher risk of cardiovascular death.

关 键 词：肥厚型心肌病 MYH7基因 TNNT2基因 基因突变 临床表型 

分 类 号：R542.2[医药卫生—心血管疾病]