Hypertrophic cardiomyopathy and mtDNA depletion. Successful treatment with heart transplantation

Neuromuscul Disord. 2002 Jan;12(1):56-9. doi: 10.1016/s0960-8966(01)00248-6.

Abstract

Cardiomyopathy associated with a mitochondrial DNA depletion syndrome is a rare condition. We report on a child with a hypertrophic cardiomyopathy and a mitochondrial depletion syndrome who was successfully treated by heart transplantation, given the tissue-specific nature of her mitochondrial disorder.

Publication types

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

MeSH terms

  • Cardiomyopathy, Hypertrophic, Familial / genetics*
  • Cardiomyopathy, Hypertrophic, Familial / surgery*
  • DNA, Mitochondrial / analysis*
  • Electron Transport Complex IV / analysis
  • Female
  • Heart Transplantation*
  • Humans
  • Infant
  • Muscle, Skeletal / cytology
  • Myocardium / enzymology
  • Myocardium / pathology
  • Succinate Dehydrogenase / analysis

Substances

  • DNA, Mitochondrial
  • Succinate Dehydrogenase
  • Electron Transport Complex IV