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Cardiac transplantation in a Duchenne muscular dystrophy carrier |
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| Authors: | Melacini P Fanin M Angelini A Pegoraro E Livi U Danieli G A Hoffman E P Thiene G Dalla Volta S Angelini C |
| Affiliation: | a Department of Cardiology, University of Padua, via Giustiniani 2, 35128 Padua, Italy b Department of Neurology, University of Padua, Padua, Italy c Institute of Pathology, University of Padua, Padua, Italy d Department of Molecular Genetics and Biochemistry, University of Pittsburgh, Pittsburgh, PA, USA e Institute of Cardiac Surgery, University of Padua, Padua, Italy f Department of Biology, University of Padua, Padua, Italy |
| 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 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. |
| Keywords: | hereditary spinal muscular atrophy heart transplantation heart dilatation dystrophin |
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