中国医学科学院学报

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中国医学科学院学报

中国医学科学院学报 ›› 2017, Vol. 39 ›› Issue (2): 290-295.doi: 10.3881/j.issn.1000-503X.2017.02.021

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线粒体心肌病的临床诊断与治疗进展

诸葛瑞琪, 周荣, 倪新海()   

  1. 中国医学科学院 北京协和医学院 国家心血管病中心 阜外医院心内科,北京 100037
  • 收稿日期:2016-01-04 出版日期:2017-04-20 发布日期:2017-04-20
  • 作者简介:

    通信作者:倪新海 电话:010-88322647,电子邮件:837226368@qq.com

Advances in Diagnosis and Management of Mitochondrial Cardiomyopathy

Ruiqi ZHUGE, Rong ZHOU, Xinhai NI()   

  1. Department of Cardiology,Fuwai Hospital,National Center for Cardiovascular Disease,CAMS and PUMC,Beijing 100037,China
  • Received:2016-01-04 Online:2017-04-20 Published:2017-04-20

摘要:

线粒体心肌病(MCM)是指由于编码氧化呼吸链的基因缺陷,导致心肌组织结构和/或功能异常(除外冠心病、高血压、瓣膜病、先天性心脏病相关的心肌损伤)的一组异质性疾病。MCM多以肥厚型或扩张型心肌病为主要临床表型,少数表现为心律失常或左室心肌致密化不全,有些则以心衰为首发症状。MCM患者常以多系统症状为主要临床表现,症状缺乏特异性从而使诊断较为困难,心脏专科医师应提高对本病的诊断意识。目前针对本病多为支持性治疗,尚无特异性治疗方法。本文重点总结MCM诊断策略的新进展,探讨可行的治疗方案,以期为心内科医师提供本病临床实践指导。

关键词: 线粒体, 线粒体心肌病, 诊断, 治疗

Abstract:

Mitochondrial cardiomyopathy (MCM) is a series of myocardial conditions characterized by abnormal heart-muscle structure,function,or both,secondary to genetic defects involving the mitochondrial respiratory chain,in the absence of concomitant coronary artery disease,hypertension,valvular disease,or congenital heart disease. MCM patients typically have hypertrophic or dilated cardiomyopathy. Arrhythmias and left ventricular myocardial noncompaction are less common,and heart failure may occur as the first symptom in some patients. Since MCM patients often have symptoms of multiple organ involvement,the symptoms are not specific and the diagnosis can be difficult. Thus,awareness of this disease must be increased in clinical settings. Treatments for MCM are mostly supportive and nonspecific. In this review,we summarize new advances in the diagnosis and management of MCM,with an improve the clinical management of this disease.

Key words: mitochondria, mitochondrial cardiomyopathy, diagnosis, management

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