Abstract |
We describe 7 transplanted heart recipients from a single family with limb-girdle muscular dystrophy type 1B linked to a mutation of the LMNA gene in the splice donor site of the exon 9 (IVS 9+1:g>a). These patients did not display higher early postoperative or late complications than other heart transplant recipients at a mean follow-up of 8 years (range 1-17 years). Noticeably, there was no case of rhabdomyolysis and skeletal muscle symptoms were not markedly impaired.
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Authors | Pierre Ambrosi, Annick Mouly-Bandini, Sharam Attarian, Gilbert Habib |
Journal | International journal of cardiology
(Int J Cardiol)
Vol. 137
Issue 3
Pg. e75-6
(Nov 12 2009)
ISSN: 1874-1754 [Electronic] Netherlands |
PMID | 19446900
(Publication Type: Case Reports, Letter)
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Chemical References |
- LMNA protein, human
- Lamin Type A
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Topics |
- Cardiomyopathy, Dilated
(genetics, surgery)
- Female
- Heart Transplantation
- Humans
- Lamin Type A
(genetics)
- Male
- Middle Aged
- Muscular Dystrophies, Limb-Girdle
(genetics)
- Mutation
- Pedigree
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