Cardiac transplantation in a Duchenne muscular dystrophy carrier

P. Melacini, M. Fanin, A. Angelini, E. Pegoraro, U. Livi, G. A. Danieli, E. P. Hoffman, G. Thiene, S. Dalla Volta, C. Angelini

Research output: Contribution to journalArticlepeer-review


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 of 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 dystrophia 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.

Original languageEnglish
Pages (from-to)585-590
Number of pages6
JournalNeuromuscular Disorders
Issue number8
Publication statusPublished - Dec 2 1998


  • Duchenne muscular dystrophy
  • Dystrophin
  • Heart transplant

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology


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