Early-onset Marfan syndrome with a novel missense mutation: A case report.
Aortic root dilatation
Arachnodactyly
Early-onset Marfan syndrome
FBN1 gene
Missense variant
Next-generation sequencing
Journal
Journal of cardiology cases
ISSN: 1878-5409
Titre abrégé: J Cardiol Cases
Pays: Japan
ID NLM: 101549579
Informations de publication
Date de publication:
Jun 2023
Jun 2023
Historique:
received:
28
09
2022
revised:
28
01
2023
accepted:
09
02
2023
medline:
7
6
2023
pubmed:
7
6
2023
entrez:
7
6
2023
Statut:
epublish
Résumé
Early-onset Marfan syndrome (eoMFS) progresses rapidly, starting during the neonatal period, causes severe clinical disease, and has a poor prognosis. The genetic abnormality associated with eoMFS is located in a so-called critical neonatal region in exons 25-26 of the We identified a novel missense mutation located in exons 25-26 of the Fibrillin-1 gene in a neonate with early-onset Marfan syndrome (eoMFS) who died of severe early heart failure shortly after birth. This mutation was located in a narrowly defined critical neonatal region, recently reported to cause eoMFS, and its clinical profile was consistent with early-onset severe heart failure. In addition to ultrasonography, genetic analysis of this region is important for predicting prognosis in eoMFS.
Identifiants
pubmed: 37283908
doi: 10.1016/j.jccase.2023.02.019
pii: S1878-5409(23)00031-2
pmc: PMC10240411
doi:
Types de publication
Case Reports
Langues
eng
Pagination
283-286Informations de copyright
© 2023 Japanese College of Cardiology. Published by Elsevier Ltd. All rights reserved.
Déclaration de conflit d'intérêts
All authors declare that they have no competing interests.
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