A case report: Twin sisters with restrictive cardiomyopathy associated with rare mutations in the cardiac troponin I gene.
Cardiac troponin I
Mutation
Restrictive cardiomyopathy
Twins
Journal
Journal of cardiology cases
ISSN: 1878-5409
Titre abrégé: J Cardiol Cases
Pays: Japan
ID NLM: 101549579
Informations de publication
Date de publication:
Apr 2021
Apr 2021
Historique:
received:
31
08
2019
revised:
07
10
2020
accepted:
22
10
2020
entrez:
12
4
2021
pubmed:
13
4
2021
medline:
13
4
2021
Statut:
epublish
Résumé
Restrictive cardiomyopathy (RCM) is a rare cardiomyopathy in children, and its prognosis until now, has been poor. Recently some sarcomeric mutations have been reported as disease-causing genes of RCM. However, the genotype-phenotype correlation is not fully understood. Additionally, prognostic factors including sudden death in patients with RCM have not been elucidated. We report our experience in treating twin sisters with RCM or hypertrophic cardiomyopathy with RCM phenotype, both carriers of the same mutation in
Identifiants
pubmed: 33841591
doi: 10.1016/j.jccase.2020.10.017
pii: S1878-5409(20)30144-4
pmc: PMC8020042
doi:
Types de publication
Case Reports
Langues
eng
Pagination
154-157Informations de copyright
© 2020 Japanese College of Cardiology. Published by Elsevier Ltd. All rights reserved.
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