CARDIOMYOPATHIES IN DISORDERS OF OXIDATIVE-METABOLISM

Primary cardiomyopathy is an important cause of mortality in children and adults. Apart from inherited disorders of myocardial contractile a nd structural proteins, several defects of energy metabolism may cause cardiomyopathy. Most of the energy required for myocardial contractio n is derived from aerobic metabolism. Faulty aerobic metabolism involv ing the heart may be due to defects of mitochondrial oxidative phospho rylation or to defects of fatty acid oxidation. Considerable advances have been made in the last 10 years in understanding the biochemical a nd molecular characteristics of mitochondrial disorders. Several point mutations or large-scale re-arrangements of mitochondrial DNA have be en identified in patients with cardiomyopathy, either as part of compl ex multisystem syndromes or as the main clinical feature. Inborn error s of fatty acid oxidation are reported with increasing frequency as a cause of metabolic dysfunction, myopathy, cardiomyopathy, and sudden d eath in childhood. Advances in biochemical and molecular genetic techn iques have considerably improved our understanding of the metabolic di sorders causing cardiomyopathy, providing new tools for classification and diagnosis of candidate patients. The present review focuses on de fects of mitochondrial oxidative metabolism associated with cardiomyop athy. (C) 1997 Elsevier Science B.V.