Emery-Dreifuss肌营养不良的心脏表现及治疗策略  

Cardiac involvement manifestations and treatment strategies for Emery-Dreifuss muscular dystrophy

作　　者：王帅[1] 彭道泉[1] Wang Shuai;Peng Daoliang(Department of Cardiology,the Second Xiangya Hospital of Central South University,Changsha 410011,China)

机构地区：[1]中南大学湘雅二医院心血管内科,长沙410011

出　　处：《中华心力衰竭和心肌病杂志（中英文）》2021年第2期128-133,共6页Chinese Journal of Heart Failure and Cardiomyopathy

摘　　要：Emery-Dreifuss肌营养不良(Emery-Dreifuss muscular dystrophy,EDMD)是编码核包膜蛋白的基因缺陷所致的一组遗传性肌营养不良综合征。临床主要表现为肌营养不良(肩胛-肱-腓肌群无力和萎缩)、关节挛缩及心脏受累(包括心律失常、心力衰竭和心脏性猝死)的“三联征”,其中,心脏受累几乎出现在所有EDMD患者,是影响患者预后的最主要因素。本文将介绍EDMD的致病基因和遗传方式,发病机制,临床表现(包括心脏外表现和心脏受累表现),诊断,治疗策略及展望等,重点介绍EDMD的心脏受累表现及治疗策略。Emery-Dreifuss Muscular Dystrophy(EDMD)is a group of inherited muscular dystrophy syndromes caused by a defect in the gene encoding nuclear envelope protein,which is characterized by the clinical triad of muscular dystrophy(weakness and atrophy of scapulohumeroperoneal muscle group),joint contractures,and cardiac involvement(including arrhythmias,heart failure and cardiac sudden death).Cardiac involvement appears in almost all patients and is the most important factor affecting the prognosis of patients with EDMD.This article will introduce the pathogenic genes and genetic patterns of EDMD,pathogenesis,clinical manifestations(including extracardiac manifestations and cardiac involvement manifestations),diagnosis,treatment strategies and prospects,with emphasis on cardiac involvement manifestations and treatment strategies for EDMD.

关 键 词：Emery-Dreifuss肌营养不良 基因突变 心脏受累 传导阻滞 心脏性猝死 

分 类 号：R746.2[医药卫生—神经病学与精神病学]