Elsevier

The Lancet

Volume 340, Issue 8831, 28 November 1992, Pages 1319-1320
The Lancet

SHORT REPORTS
Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA

https://doi.org/10.1016/0140-6736(92)92496-3Get rights and content

Abstract

Idiopathic dilated cardiomyopathy (DCM) is often familial, but the pathogenetic mechanisms of DCM are unknown. We report a woman and her son who both died of DCM. The son's cardiac and skeletal muscles showed a high proportion of mitochondrial DNA (mtDNA) with multiple large deletions by Southern-blot hybridisation and polymerase chain reaction analyses. Amplification of the mother's cardiac mtDNA from 20-year-old paraffin-embedded sections showed that she also had deletions of mtDNA. These data suggest that a subgroup of inherited DCMs is associated with mtDNA mutations.

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