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

Eur Heart J. 2012 Dec;33(24):3023-33. doi: 10.1093/eurheartj/ehs275. Epub 2012 Aug 30.


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 types

  • Review

MeSH terms

  • 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


  • DNA, Mitochondrial