Cardiac transplantation in a Duchenne muscular dystrophy carrier.
We report here for the first time the case of a symptomatic DMD carrier, who had a heart transplant for a severe dilated cardiomyopathy. Dystrophin immunohistochemistry, western blot and analysis of X-chromosome inactivation on leucocytes, and skeletal and cardiac muscle biopsies on the explanted heart were performed. The patient was a heterozygote for exons 50-52 deletion in the dystrophin gene. The number of dystrophin-deficient fibres in the heart was much higher than in skeletal muscle. On the other hand, the explanted heart showed a non-skewed pattern of X-chromosome inactivation, as in leukocytes and skeletal muscle. The adverse cardiac course may be explained by the absence of regeneration among cardiomyocytes.
Melacini
P
P
Department of Cardiology, University of Padua, Italy.
Fanin
M
M
Angelini
A
A
Pegoraro
E
E
Livi
U
U
Danieli
G A
GA
Hoffman
E P
EP
Thiene
G
G
Dalla Volta
S
S
Angelini
C
C
D000328:Adult; D001706:Biopsy; D002311:Cardiomyopathy, Dilated / Q000150:complications / Q000378:metabolism / Q000473:pathology / Q000601:surgery*; D004247:DNA / Q000032:analysis; D004303:Dosage Compensation, Genetic; D016189:Dystrophin / Q000235:genetics / Q000378:metabolism; D005260:Female; D016027:Heart Transplantation; D006579:Heterozygote; D006801:Humans; D007150:Immunohistochemistry; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009136:Muscular Dystrophies / Q000150:complications* / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D009206:Myocardium / Q000378:metabolism
D016189:Dystrophin; D004247:DNA