Cardiomyopathies in disorders of oxidative metabolism

Cardiovasc Res. 1997 Aug;35(2):184-99. doi: 10.1016/s0008-6363(97)00141-7.

Abstract

Primary cardiomyopathy is an important cause of mortality in children and adults. Apart from inherited disorders of myocardial contractile and structural proteins, several defects of energy metabolism may cause cardiomyopathy. Most of the energy required for myocardial contraction is derived from aerobic metabolism. Faulty aerobic metabolism involving the heart may be due to defects of mitochondrial oxidative phosphorylation or to defects of fatty acid oxidation. Considerable advances have been made in the last 10 years in understanding the biochemical and molecular characteristics of mitochondrial disorders. Several point mutations or large-scale re-arrangements of mitochondrial DNA have been identified in patients with cardiomyopathy, either as part of complex multisystem syndromes or as the main clinical feature. Inborn errors of fatty acid oxidation are reported with increasing frequency as a cause of metabolic dysfunction, myopathy, cardiomyopathy, and sudden death in childhood. Advances in biochemical and molecular genetic techniques have considerably improved our understanding of the metabolic disorders causing cardiomyopathy, providing new tools for classification and diagnosis of candidate patients. The present review focuses on defects of mitochondrial oxidative metabolism associated with cardiomyopathy.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Cardiomyopathies / genetics
  • Cardiomyopathies / metabolism*
  • DNA, Mitochondrial / genetics
  • Gene Rearrangement
  • Humans
  • Lipid Metabolism
  • Mitochondria, Heart / genetics
  • Mitochondria, Heart / metabolism*
  • Oxidative Phosphorylation
  • Point Mutation

Substances

  • DNA, Mitochondrial

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