Hypertrophic cardiomyopathy and mtDNA depletion. Successful treatment with heart transplantation.
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.
Santorelli
F M
FM
Unit of Molecular Medicine, Division of Cardiology, Bambino Gesù Hospital and Research Institute, 00165 Rome, Italy.
Gagliardi
M G
MG
Dionisi-Vici
C
C
Parisi
F
F
Tessa
A
A
Carrozzo
R
R
Piemonte
F
F
Pfeiffer
K
K
Schägger
H
H
Bertini
E
E
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
D004272:DNA, Mitochondrial; D013385:Succinate Dehydrogenase; D003576:Electron Transport Complex IV