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 | |
| Publication status | Published - Dec 2 1998 |
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Keywords
- Duchenne muscular dystrophy
- Dystrophin
- Heart transplant
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
- Developmental Neuroscience
- Neurology
Cite this
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 journal › Article
}
TY - JOUR
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.
KW - Duchenne muscular dystrophy
KW - Dystrophin
KW - Heart transplant
UR - http://www.scopus.com/inward/record.url?scp=17144447073&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=17144447073&partnerID=8YFLogxK
U2 - 10.1016/S0960-8966(98)00071-6
DO - 10.1016/S0960-8966(98)00071-6
M3 - Article
C2 - 10093066
AN - SCOPUS:17144447073
VL - 8
SP - 585
EP - 590
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
SN - 0960-8966
IS - 8
ER -