Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management

被引：168

作者：

Bates, Matthew G. D. ^{[1
,2
]}

Bourke, John P. ^{[2
]}

Giordano, Carla ^{[3
]}

d'Amati, Giulia ^{[3
]}

Turnbull, Douglass M. ^{[1
,2
]}

Taylor, Robert W. ^{[1
]}

机构：

[1] Newcastle Univ, Sch Med, Inst Ageing & Hlth, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

[2] Newcastle Upon Tyne Hosp NHS Fdn Trust, Newcastle Upon Tyne NE7 7DN, Tyne & Wear, England

[3] Univ Roma La Sapienza, Dept Radiol Oncol & Pathol, Rome, Italy

来源：

EUROPEAN HEART JOURNAL | 2012年 / 33卷 / 24期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

Mitochondrial DNA disease; Cardiac involvement; Cardiomyopathy; Conduction system disease; Ventricular pre-excitation; KEARNS-SAYRE SYNDROME; PARKINSON-WHITE-SYNDROME; OF-CARDIOLOGY COMMITTEE; ASSOCIATION TASK-FORCE; TERM-FOLLOW-UP; HYPERTROPHIC CARDIOMYOPATHY; MYOTONIC-DYSTROPHY; HISTIOCYTOID CARDIOMYOPATHY; DILATED CARDIOMYOPATHY; CONSENSUS STATEMENT;

D O I：

10.1093/eurheartj/ehs275

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Mitochondrial disease refers to a heterogenous group of genetic disorders that result from dysfunction of the final common pathway of energy metabolism. Mitochondrial DNA mutations affect key components of the respiratory chain and account for the majority of mitochondrial disease in adults. Owing to critical dependence of the heart on oxidative metabolism, cardiac involvement in mitochondrial disease is common and may occur as the principal clinical manifestation or part of multisystem disease. Recent advances in our understanding of the clinical spectrum and genetic aetiology of cardiac involvement in mitochondrial DNA disease have important implications for cardiologists in terms of the investigation and multi-disciplinary management of patients.

引用

页码：3023 / +

页数：13

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