Drug-refractory Heart Failure in Female Carrier of Duchenne Muscular Dystrophy: A Case of X-linked Dilated Cardiomyopathy.
Duchenne muscular dystrophy
X-linked dilated cardiomyopathy
drug-refractory heart failure
exon 8-9 duplication
female carrier
Journal
Internal medicine (Tokyo, Japan)
ISSN: 1349-7235
Titre abrégé: Intern Med
Pays: Japan
ID NLM: 9204241
Informations de publication
Date de publication:
15 Jul 2023
15 Jul 2023
Historique:
medline:
19
7
2023
pubmed:
1
12
2022
entrez:
30
11
2022
Statut:
ppublish
Résumé
A 56-year-old woman was referred to our hospital for the further evaluation of drug-refractory heart failure with a reduced ejection fraction. A family history interview revealed that men in her family had died of Duchenne muscular dystrophy (DMD), whereas she had no skeletal muscle disorder. Myocardial histopathology revealed a reduced dystrophin expression in the cardiomyocyte membrane, and a dystrophin (DMD) gene analysis identified a duplication in exon 8-9 on Xp21, suggesting that she had a cardiac-specific phenotype of dystrophinopathy, i.e. X-linked dilated cardiomyopathy (XLDCM). In conclusion, careful family history interviews and an investigation of dystrophinopathy are required to detect XLDCM in women.
Identifiants
pubmed: 36450469
doi: 10.2169/internalmedicine.0745-22
pmc: PMC10400384
doi:
Substances chimiques
Dystrophin
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2089-2092Références
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