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

Lookup NU author(s): Dr Matthew Bates, Dr John Bourke, Emeritus Professor Doug Turnbull, Professor Robert Taylor


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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.

Publication metadata

Author(s): Bates MGD, Bourke JP, Giordano C, d'Amati G, Turnbull DM, Taylor RW

Publication type: Review

Publication status: Published

Journal: European Heart Journal

Year: 2012

Volume: 33

Issue: 24

Pages: 3023-3033

Print publication date: 01/12/2012

ISSN (print): 0195-668X

ISSN (electronic): 1522-9645



DOI: 10.1093/eurheartj/ehs275