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

Autor:	Raymond Pfister, Clara Knowles, Matthias Kirsch
Jazyk:	angličtina
Rok vydání:	2020
Předmět:	Genetic Microdeletion Valvular degeneration Aortic valve insufficiency Fibromyxoid degeneration Surgery RD1-811 Anesthesiology RD78.3-87.3
Zdroj:	Journal of Cardiothoracic Surgery, Vol 15, Iss 1, Pp 1-3 (2020)
Druh dokumentu:	article
ISSN:	1749-8090
DOI:	10.1186/s13019-020-01104-3
Popis:	Abstract Background 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. Case presentation 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. Conclusion 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.
Databáze:	Directory of Open Access Journals
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