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

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 t...

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Bibliographic Details
Published in:	European heart journal 2012-12, Vol.33 (24), p.3023-3033
Main Authors:	Bates, Matthew G D, Bourke, John P, Giordano, Carla, d'Amati, Giulia, Turnbull, Douglass M, Taylor, Robert W
Format:	Article
Language:	eng
Subjects:	Adult Arrhythmias, Cardiac - diagnosis Arrhythmias, Cardiac - etiology Arrhythmias, Cardiac - therapy Biopsy - methods Cardiomyopathies - diagnosis Cardiomyopathies - ethnology Cardiomyopathies - etiology Cardiomyopathies - therapy DNA, Mitochondrial - genetics Genetic Testing Humans Mitochondria, Heart Mitochondrial Diseases - complications Mitochondrial Diseases - diagnosis Mitochondrial Diseases - therapy Mutation - genetics Phenotype Reviews
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Summary:	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.
ISSN:	0195-668X 1522-9645