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

Details

Serval ID
serval:BIB_2CA008316186
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Case report: early aortic valve degeneration associated with interstitial deletion of chromosome 2-46,XX,del (2)(q31.3; q32.2).
Journal
Journal of cardiothoracic surgery
Author(s)
Pfister R., Knowles C., Kirsch M.
ISSN
1749-8090 (Electronic)
ISSN-L
1749-8090
Publication state
Published
Issued date
21/04/2020
Peer-reviewed
Oui
Volume
15
Number
1
Pages
64
Language
english
Notes
Publication types: Journal Article
Publication Status: epublish
Abstract
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.
Keywords
Aortic valve insufficiency, Fibromyxoid degeneration, Genetic, Microdeletion, Valvular degeneration
Pubmed
Open Access
Yes
Create date
25/04/2020 17:34
Last modification date
26/11/2020 6:26
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