Mitochondrial diseases and the heart: an overview of molecular basis, diagnosis, treatment and clinical course

Future Cardiol. 2012 Jan;8(1):71-88. doi: 10.2217/fca.11.79.

Abstract

The mitochondrion is the main site of production of ATP that represents the source of energy for a large number of cellular processes. Mitochondrial diseases that result in a deficit in ATP production can affect almost every organ system with a large spectrum of clinical phenotypes. Cardiomyocytes are particularly vulnerable to limited ATP supply because of their large energy requirement. Abnormalities in the mitochondrial function are increasingly recognized in association with dilated and hypertrophic cardiomyopathy, cardiac conduction defects, endothelial dysfunction and coronary artery disease. Cardiologists should, therefore, be alerted to symptoms and signs suggestive of mitochondrial diseases and become familiar with the general issues related to multisystem disease management, genetic counseling and testing.

Publication types

  • Review

MeSH terms

  • Cardiomyopathy, Dilated / genetics
  • Cardiomyopathy, Dilated / pathology
  • Cardiomyopathy, Hypertrophic / genetics
  • Cardiomyopathy, Hypertrophic / pathology
  • Coronary Artery Disease / pathology
  • DNA, Mitochondrial
  • Endothelium, Vascular / cytology
  • Endothelium, Vascular / pathology
  • Humans
  • Mitochondria*
  • Mitochondrial Diseases / genetics
  • Mitochondrial Diseases / pathology*
  • Mutation
  • Myocardium / cytology
  • Myocardium / pathology*
  • Myocytes, Cardiac / cytology*

Substances

  • DNA, Mitochondrial