Cardiac mitochondrial dysfunction and DNA depletion in children with hypertrophic cardiomyopathy

  title={Cardiac mitochondrial dysfunction and DNA depletion in children with hypertrophic cardiomyopathy},
  author={Jos{\'e} Mar{\'i}n-Garc{\'i}a and Radha Ananthakrishnan and Michael J. Goldenthal and James J. Filiano and Antonio R. Perez-Atayde},
  journal={Journal of Inherited Metabolic Disease},
Abnormalities in specific mitochondrial respiratory enzymes and DNA (mtDNA) have been reported in cardiomyopathy. In this study, we report 4 cases of severe hypertrophic cardiomyopathy (HCM) in which specific cardiac mitochondrial enzyme activity defects were found, including complex I (n = 2), complex III (n = 2), complex IV (n = 2) and complex V (n = 1). Other abnormalities were also noted including a marked depletion of mtDNA (n = 1) and decreased content of subunit 2 of cytochrome c oxidase… CONTINUE READING


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