A case of Turner's syndrome, factor 5 Leiden, and fi brinogen defi ciency associated with congenital aortic stenosis complicated by aortic aneurysm and aortic regurgitation

Abstract

The 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.