Cardiac transplantation in an incomplete Kearns-Sayre syndrome with mitochondrial DNA deletion.
A 38-yr-old man with external ophthalmoplegia, cardiac conduction abnormalities, hearing loss, and ragged-red fibres in skeletal muscle biopsy, developed severe signs of cardiac failure within a few months. Echocardiography and angiography demonstrated a dilated cardiomyopathy. Ubiquinone 140 mg day-1 did not stop the worsening of the cardiac status and cardiac transplantation was performed. Molecular analysis showed a heteroplasmic 4.5 kb mitochondrial DNA deletion in endomyocardial tissue. Eighteen months later, cardiac evolution is good and neurological status is stable.
Tranchant
C
C
Service des Maladies du Système Nerveux et du Muscle, CHU, Strasbourg, France.
Mousson
B
B
Mohr
M
M
Dumoulin
R
R
Welsch
M
M
Weess
C
C
Stepien
G
G
Warter
J M
JM
D000328:Adult; D015139:Blotting, Southern; D002311:Cardiomyopathy, Dilated / Q000150:complications* / Q000473:pathology / Q000601:surgery*; D004272:DNA, Mitochondrial / Q000235:genetics*; D016027:Heart Transplantation; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000150:complications* / Q000235:genetics / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron; D009206:Myocardium / Q000378:metabolism / Q000473:pathology* / Q000648:ultrastructure; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion
D004272:DNA, Mitochondrial