title: Hypertrophic cardiomyopathy and mtDNA depletion. Successful treatment with heart transplantation.
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.
authors.affiliation: Unit of Molecular Medicine, Division of Cardiology, Bambino Gesù Hospital and Research Institute, 00165 Rome, Italy.
authors.forename: F M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: M G
authors.initials: MG
authors.lastname: Gagliardi
authors.forename: C
authors.initials: C
authors.lastname: Dionisi-Vici
authors.forename: F
authors.initials: F
authors.lastname: Parisi
authors.forename: A
authors.initials: A
authors.lastname: Tessa
authors.forename: R
authors.initials: R
authors.lastname: Carrozzo
authors.forename: F
authors.initials: F
authors.lastname: Piemonte
authors.forename: K
authors.initials: K
authors.lastname: Pfeiffer
authors.forename: H
authors.initials: H
authors.lastname: Schägger
authors.forename: E
authors.initials: E
authors.lastname: Bertini
mesh_terms: D024741:Cardiomyopathy, Hypertrophic, Familial / Q000235:genetics* / Q000601:surgery*; D004272:DNA, Mitochondrial / Q000032:analysis*; D003576:Electron Transport Complex IV / Q000032:analysis; D005260:Female; D016027:Heart Transplantation; D006801:Humans; D007223:Infant; D018482:Muscle, Skeletal / Q000166:cytology; D009206:Myocardium / Q000201:enzymology / Q000473:pathology; D013385:Succinate Dehydrogenase / Q000032:analysis
chemical_list: D004272:DNA, Mitochondrial; D013385:Succinate Dehydrogenase; D003576:Electron Transport Complex IV