Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: a retrospective cohort and comprehensive review.

ABSTRACT: BACKGROUND:Vascular Ehlers-Danlos syndrome (vEDS) is a rare condition characterized by connective tissue fragility. Direct spontaneous carotid-cavernous fistula (sCCF) is reportedly pathognomonic of vEDS. We conducted this study to understand the possible mechanisms of occurrence of sCCF in this subset of patients. METHODS:We conducted a retrospective analysis of a monocentric vEDS cohort along with a literature review regarding sCCF in this condition. RESULTS:Of 133 patients regularly followed in our centre between 2000 and 2017, 13 (9.8%) had a diagnosis of direct sCCF (92.3% female, median age 33.0 years, interquartile range (IQR) [26.0-39.5]). There were 7 Glycine missense and 6 splice-site variants but no variant leading to haploinsufficiency. The literature search identified 97 vEDS

SUBMITTER: Adham S 

PROVIDER: S-EPMC6019721 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature