遗传性心肌病的临床实践指南  

Clinical practice guidelines for hereditary cardiomyopathy

作　　者：无 孙君慧 韩帅 胡金柱[3] 蒋晨阳[4] 王擎[5] 郑良荣[6] 周洲 祁鸣[2,4,6,8,9] 无;Sun Junhui;Han Shuai;Hu Jinzhu;Jiang Chenyang;Wang Qing;Zheng Liangrong;Zhou Zhou;Qi Ming(Writing Group for Practice Guidelines for Diagnosis and Treatment of Genetic Diseases,Medical Genetics Branch of Chinese Medical Association;不详)

机构地区：[1]中华医学会医学遗传学分会遗传病临床实践指南撰写组 [2]浙江大学医学院细胞生物学与医学遗传学系 [3]南昌大学第二附属医院 [4]浙江大学医学院附属邵逸夫医院基因中心 [5]华中科技大学生命科学与技术学院 [6]浙江大学医学院附属第一医院基因中心 [7]中国医学科学院阜外医院实验诊断中心 [8]浙江迪安诊断技术股份有限公司 [9]美国罗切斯特大学医学中心

出　　处：《中华医学遗传学杂志》2020年第3期300-307,共8页Chinese Journal of Medical Genetics

摘　　要：心肌病是一组异质性心肌疾病,可由各种原因(常为遗传因素)引起,能够导致心力衰竭、心律失常和猝死。原发性心肌病包括遗传性肥厚型心肌病、致心律失常右室心肌病、线粒体心肌病、混合性(遗传性及获得性)扩张型心肌病和限制型心肌病、左心室致密化不全以及其他未分类的心肌病。借助基因组学技术,在人群中发现的一些常见突变与疾病的关联已被鉴定。这些突变的体内和体外功能研究为疾病的发生机制和治疗提供了有用的线索。本指南在参考国内外本领域的基础研究、临床研究和其他国家的相关指南共识的基础上,对不同类型遗传型心肌病的表型、诊断、治疗及遗传咨询进行了总结,期望有助于患者临床管理的规范化。Cardiomyopathies are a group of heterogeneous diseases which can he caused by various factors(often genetic)and can lead to heart failure,arrhythmia and sudden death.Primary cardiomyopathies includes hereditary hypertrophic cardiomyopathy,arrhythmogenic right ventricular cardiomyopathy,mitochondrial cardiomyopathy,mixed(hereditary and acquired)dilated cardiomyopathy and restrictive cardiomyopathy,left ventricular densification insufficiency,and other unclassified cardiomyopathies.With the help of genomic technology,common mutations in the population have been identified.In vivo and in vitro study of such mutations has provided insight into the pathogenesis and treatment of these diseases.The compilation of this guideline is based on the consensus of basic and clinical research and guidelines from other countries,and has summarized the phenotype,diagnosis,treatment and consultation of various types of genetic cardiomyopathies with an aim to standardize the clinical management of patients.

关 键 词：心肌病 肥厚型心肌病 致心律失常右室心肌病 线粒体心肌病 扩张型心肌病 限制型心肌病 实践指南 

分 类 号：R54[医药卫生—心血管疾病]