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 journalArticle

Abstract

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
Volume8
Issue number8
DOIs
Publication statusPublished - Dec 2 1998

Fingerprint

Duchenne Muscular Dystrophy
Heart Transplantation
X Chromosome Inactivation
Dystrophin
Skeletal Muscle
Leukocytes
Dilated Cardiomyopathy
Heterozygote
Cardiac Myocytes
Regeneration
Exons
Myocardium
Western Blotting
Immunohistochemistry
Transplants
Biopsy
Genes

Keywords

  • Duchenne muscular dystrophy
  • Dystrophin
  • Heart transplant

ASJC Scopus subject areas

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

Cite this

Melacini, P., Fanin, M., Angelini, A., Pegoraro, E., Livi, U., Danieli, G. A., ... Angelini, C. (1998). Cardiac transplantation in a Duchenne muscular dystrophy carrier. Neuromuscular Disorders, 8(8), 585-590. https://doi.org/10.1016/S0960-8966(98)00071-6

Cardiac transplantation in a Duchenne muscular dystrophy carrier. / Melacini, P.; Fanin, M.; Angelini, A.; Pegoraro, E.; Livi, U.; Danieli, G. A.; Hoffman, E. P.; Thiene, G.; Dalla Volta, S.; Angelini, C.

In: Neuromuscular Disorders, Vol. 8, No. 8, 02.12.1998, p. 585-590.

Research output: Contribution to journalArticle

Melacini, P, Fanin, M, Angelini, A, Pegoraro, E, Livi, U, Danieli, GA, Hoffman, EP, Thiene, G, Dalla Volta, S & Angelini, C 1998, 'Cardiac transplantation in a Duchenne muscular dystrophy carrier', Neuromuscular Disorders, vol. 8, no. 8, pp. 585-590. https://doi.org/10.1016/S0960-8966(98)00071-6
Melacini P, Fanin M, Angelini A, Pegoraro E, Livi U, Danieli GA et al. Cardiac transplantation in a Duchenne muscular dystrophy carrier. Neuromuscular Disorders. 1998 Dec 2;8(8):585-590. https://doi.org/10.1016/S0960-8966(98)00071-6
Melacini, P. ; Fanin, M. ; Angelini, A. ; Pegoraro, E. ; Livi, U. ; Danieli, G. A. ; Hoffman, E. P. ; Thiene, G. ; Dalla Volta, S. ; Angelini, C. / Cardiac transplantation in a Duchenne muscular dystrophy carrier. In: Neuromuscular Disorders. 1998 ; Vol. 8, No. 8. pp. 585-590.
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