Mitochondrial DNA Mutations and Heart Failure

  • Takayuki Ozawa
  • Kazumi Katsumata
  • Mika Hayakawa
  • Makoto Yoneda
  • Masashi Tanaka
  • Satoru Sugiyama
Part of the Developments in Cardiovascular Medicine book series (DICM, volume 169)


The cardiomyopathies have been considered to constitute a group of diseases in which the dominant feature is involvement of heart muscle itself. Because the clinical features vary considerably, ranging from asymptomatic patients to patients with incapacitating symptoms, cardiomyopathy (CM) has been considered to be a diagnosis of exclusion, and many etiological causes have been proposed, such as abnormal handling of calcium ion by the myocardium or the inheritance of susceptibility to development of CM. Recent studies on the molecular genetics of the myocardium revealed that a substantial number of the patients with primary CM of unknown etiology, except familiar CM with Menderian heredity, retain the various multigene mutations in mitochondrial (mt) DNA of myocardium, and thus could be diagnosed as mtCM [1]. Point mutations in the β-myosin heavy chain (BMHC) gene were documented among patients with familial CM [2]. In the case of mtCM, patients show maternal inheritance or often sporadic occurrence as does primary CM.


Mitochondrial Encephalomyopathy Familial Hypertrophic Cardiomyopathy Diffuse Hypokinesis Hydroxyl Radical Damage Oxygen Free Radical Species 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Kluwer Academic Publishers 1995

Authors and Affiliations

  • Takayuki Ozawa
  • Kazumi Katsumata
  • Mika Hayakawa
  • Makoto Yoneda
  • Masashi Tanaka
  • Satoru Sugiyama

There are no affiliations available

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