肥厚型心肌病一家系  

Analysis of genotype and phenotype correlations in a Chinese pedigree with hypertrophic cardiomyopathy

作　　者：刘福颂 王芳[1] 刘杰[1] 邢晓博 徐晟伟[2] 朱玉召 邹红梅[4] 赵雯娜[1] 刘宗涛[5] 孙芳芳 Liu Fusong;Wang Fang;Liu Jie;Xing Xiaobo;Xu Shengwei;Zhu Yuzhao;Zou Hongmei;Zhao Wenna;Liu Zongtao;Sun Fangfang(Department of Cardiology,Third People's Hospital of Qingdao,Qingdao 266041,China;Department of Critical Care Medicine,Third People's Hospital of Qingdao,Qingdao 266041,China;Special Inspection Department,Third People's Hospital of Qingdao,Qingdao 266041,China;Department of Radiology,Third People's Hospital of Qingdao,Qingdao 266041,China;Department of Clinical Laboratory,Third People's Hospital of Qingdao,Qingdao 266041,China)

机构地区：[1]青岛市第三人民医院心内科,266041 [2]青岛市第三人民医院重症医学科,266041 [3]青岛市第三人民医院特检科,266041 [4]青岛市第三人民医院放射科,266041 [5]青岛市第三人民医院检验科,266041

出　　处：《中华心血管病杂志》2019年第1期58-60,共3页Chinese Journal of Cardiology

基　　金：青岛市科研计划(2015-WJZD061).

摘　　要：肥厚型心肌病是一种常染色体显性遗传性心肌病,本文报道了肥厚型心肌病一家系。该家系先证者同时携带5个罕见变异,分别为TNNI3:p.L144R、MYBPC3:p.S1182R、MYL2:p.E68fs、CTNNA3:p.S760P和DSP:p.I814T。先证者出现心脏性猝死、心室壁变薄等高危临床表型较早,提示肥厚型心肌病具有明显的临床和遗传异质性,复合致病基因变异叠加效应可使临床表型更严重。基因诊断可为肥厚型心肌病的临床诊断、危险分层及心脏性猝死的早期预警提供参考。

关 键 词：心肌病 肥厚性 突变 猝死 

分 类 号：R542.2[医药卫生—心血管疾病]