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

doi:10.1016/S0960-8966(98)00071-6

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

Istituto di Neuroriabilitazione Motoria San Camillo

Research output: Contribution to journal › Article › peer-review

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 language	English
Pages (from-to)	585-590
Number of pages	6
Journal	Neuromuscular Disorders
Volume	8
Issue number	8
DOIs	https://doi.org/10.1016/S0960-8966(98)00071-6
Publication status	Published - Dec 2 1998

Keywords

Duchenne muscular dystrophy
Dystrophin
Heart transplant

ASJC Scopus subject areas

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

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title = "Cardiac transplantation in a Duchenne muscular dystrophy carrier",

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.",

keywords = "Duchenne muscular dystrophy, Dystrophin, Heart transplant",

author = "P. Melacini and M. Fanin and A. Angelini and E. Pegoraro and U. Livi and Danieli, {G. A.} and Hoffman, {E. P.} and G. Thiene and {Dalla Volta}, S. and C. Angelini",

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T1 - Cardiac transplantation in a Duchenne muscular dystrophy carrier

AU - Melacini, P.

AU - Fanin, M.

AU - Angelini, A.

AU - Pegoraro, E.

AU - Livi, U.

AU - Danieli, G. A.

AU - Hoffman, E. P.

AU - Thiene, G.

AU - Dalla Volta, S.

AU - Angelini, C.

PY - 1998/12/2

Y1 - 1998/12/2

N2 - 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.

AB - 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.

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