Progressive cardiomyopathy as manifestation of mitochondrial disease

Postgrad Med J. 2002 May;78(919):298-9. doi: 10.1136/pmj.78.919.298.


Cardiomyopathies are a clinically and genetically heterogeneous group of cardiac diseases in which the myocardium is primarily involved. Mitochondrial DNA point mutations have been identified in a broad spectrum of mitochondrial disorders, which are associated with neurological diseases. However, they also have been reported in patients with cardiomyopathy, either alone or as part of a multisystem disorder. A patient who presented with severe heart failure and was diagnosed as having a mitochondrial A3243G mutation is described.

Publication types

  • Case Reports

MeSH terms

  • DNA, Mitochondrial / genetics
  • Disease Progression
  • Female
  • Follow-Up Studies
  • Heart Failure / diagnosis*
  • Heart Failure / genetics
  • Humans
  • MELAS Syndrome / diagnosis*
  • Middle Aged
  • Mutation


  • DNA, Mitochondrial