Cardiac transplantation in a Duchenne muscular dystrophy carrier

We report here for the first time the case of a symptomatic DMD carrier, wh o had a heart transplant for a severe dilated cardiomyopathy. Dystrophin im munohistochemistry, western blot and analysis of X-chromosome inactivation on leucocytes, and skeletal and cardiac muscle biopsies on the explanted he art were performed. The patient was a heterozygote for exons 50-52 deletion in the dystrophin gene. The number of dystrophin-deficient fibres in the h eart was much higher than in skeletal muscle. On the other hand, the explan ted heart showed a non-skewed pattern of X-chromosome inactivation, as in l eukocytes and skeletal muscle. The adverse cardiac course may be explained by the absence of regeneration among cardiomyocytes. (C) 1998 Elsevier Scie nce B.V. All rights reserved.