A case of Turner's syndrome, factor 5 Leiden, and fibrinogen deficiency associated with congenital aortic stenosis complicated by aortic aneurysm and aortic regurgitation

Öteyaka, EmreKaynar, LeylagülUğurlucan, Hasan Erdem MuratTürkoğlu, Halil2024-07-292024-07-292024Öteyaka, E., Kaynar, L., Uğurlucan, H. E. M. ve Türkoğlu, H. (2024). A case of Turner's syndrome, factor 5 Leiden, and fibrinogen deficiency associated with congenital aortic stenosis complicated by aortic aneurysm and aortic regurgitation. Cor et Vasa, 66(3), 378-379. http://dx.doi.org/10.33678/cor.2024.0110010-86501803-7712http://dx.doi.org/10.33678/cor.2024.011https://hdl.handle.net/20.500.12511/12743The combination of Turner’s syndrome, factor 5 Leiden and fi brinogen 1 defi ciency is extremely rare. The modifi ed Bentall procedure is a viable option for the management of aortic aneurysms and bicuspid aortic valves in Turner’s syndrome to minimise the risks associated with high-risk surgical interventions. We report details of the successful implementation of the Bentall operation in a patient with Turner’s syndrome complicated by aortic aneurysm, bicuspid aorta, factor 5 Leiden and fi brinogen defi ciency.Kombinace Turnerova syndromu, leidenské mutace (mutace faktoru V Leiden) a defi citu fi brinogenu 1 se vyskytuje velmi vzácn?. Modifi kovaná Bentallova operace p?edstavuje provediteln? zp?sob ?ešení aneurysmat aorty a dvojcíp?ch aortálních chlopní u Turnerova syndromu s cílem omezit na minimum rizika spojená s vysoce rizikov?mi chirurgick?mi v?kony. V této kazuistice podrobn? popisujeme úsp?šné provedení Bentallovy operace u pacienta s Turnerov?m syndromem komplikovan?m aneurysmatem aorty, dvojcípou aortální chlopní, mutací faktoru V Leiden a defi citem fi brinogenu 1.eninfo:eu-repo/semantics/openAccessCongenital Aortic StenosisFactor 5 LeidenTurner's SyndromeMutace Faktoru V LeidenTurner?v SyndromVrozená Aortální StenózaA case of Turner's syndrome, factor 5 Leiden, and fibrinogen deficiency associated with congenital aortic stenosis complicated by aortic aneurysm and aortic regurgitationArticle66337837910.33678/cor.2024.011Q4001263873100013