Case report: early aortic valve degeneration associated with interstitial deletion of chromosome 2-46,XX,del (2)(q31.3; q32.2).

Détails

ID Serval
serval:BIB_2CA008316186
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Case report: early aortic valve degeneration associated with interstitial deletion of chromosome 2-46,XX,del (2)(q31.3; q32.2).
Périodique
Journal of cardiothoracic surgery
Auteur(s)
Pfister R., Knowles C., Kirsch M.
ISSN
1749-8090 (Electronic)
ISSN-L
1749-8090
Statut éditorial
Publié
Date de publication
21/04/2020
Peer-reviewed
Oui
Volume
15
Numéro
1
Pages
64
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: epublish
Résumé
Interstitial deletions within the long arm of chromosome 2, involving the 2q31q33 region, are rare but are known to be associated with delays in development, behavioral problems, facial dysmorphism and various hand/foot anomalies.
Here, we describe a case with an interstitial 2q31.3.q32.2 deletion, presenting the previously described phenotype, exhibiting fibromyxoid degeneration of the aortic valve in addition to previously described clinical features.
Interstitial deletion in chromosome 2q31.2q32.3 might be associated to a fibromyxoid degeneration of valvular leaflets generating regurgitation. Patients diagnosed with this mutation may require investigation to rule out a valvular disease.
Mots-clé
Aortic valve insufficiency, Fibromyxoid degeneration, Genetic, Microdeletion, Valvular degeneration
Pubmed
Open Access
Oui
Création de la notice
25/04/2020 17:34
Dernière modification de la notice
26/11/2020 6:26
Données d'usage