title: Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management.
abstract: 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.
authors.affiliation: Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK. matthew.bates@newcastle.ac.uk
authors.forename: Matthew G D
authors.initials: MG
authors.lastname: Bates
authors.forename: John P
authors.initials: JP
authors.lastname: Bourke
authors.forename: Carla
authors.initials: C
authors.lastname: Giordano
authors.forename: Giulia
authors.initials: G
authors.lastname: d'Amati
authors.forename: Douglass M
authors.initials: DM
authors.lastname: Turnbull
authors.forename: Robert W
authors.initials: RW
authors.lastname: Taylor
mesh_terms: D000328:Adult; D001145:Arrhythmias, Cardiac / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D001706:Biopsy / Q000379:methods; D009202:Cardiomyopathies / Q000175:diagnosis / Q000208:ethnology* / Q000209:etiology* / Q000628:therapy; D004272:DNA, Mitochondrial / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D008929:Mitochondria, Heart; D028361:Mitochondrial Diseases / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D009154:Mutation / Q000235:genetics; D010641:Phenotype
chemical_list: D004272:DNA, Mitochondrial