HYPERTROPHIC CARDIOMYOPATHY WITH MITOCHONDRIAL-DNA DEPLETION AND RESPIRATORY ENZYME DEFECTS

We report the case of a child with severe hypertrophic cardiomyopathy, with decreased activity levels of cardiac mitochondrial respiratory c omplex I and III, and with a pronounced reduction in cardiac mitochond rial DNA copy number level, Mitochondrial DNA depletion has not been p reviously reported in hypertrophic cardiomyopathy and it may play a ro le in its pathogenesis.