期刊
EUROPEAN HEART JOURNAL
卷 33, 期 24, 页码 3023-+出版社
OXFORD UNIV PRESS
DOI: 10.1093/eurheartj/ehs275
关键词
Mitochondrial DNA disease; Cardiac involvement; Cardiomyopathy; Conduction system disease; Ventricular pre-excitation
资金
- Wellcome Trust [BH092142, 096919Z/11/Z, 074454/Z/04/Z]
- Medical Research Council [G0601943, G0800674]
- Newcastle upon Tyne Hospitals NHS Foundation Trust
- NHS Specialized Services
- MRC [G0800674, G0700718, G0601943] Funding Source: UKRI
- British Heart Foundation [SP/05/001/18616] Funding Source: researchfish
- Medical Research Council [G0700718, G0800674, G0601943] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0510-10187] Funding Source: researchfish
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.
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