ReviewOrphanet journal of rare diseases2018
Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: a retrospective cohort and comprehensive review.
Review in Orphanet journal of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 35 citations in OpenAlex.
- Ocular manifestations in Ehlers-Danlos syndrome.Eye (London, England) · 2025Article
- Identification and Structural Characterization of a Novel COL3A1 Gene Duplication in a Family With Vascular Ehlers-Danlos Syndrome.Molecular genetics & genomic medicine · 2025Article
- Endovascular Treatment of Direct Carotid-Cavernous Fistula in a Patient with Loeys-Dietz Syndrome.Journal of neuroendovascular therapy · 2025Article
- Management of Direct Internal Carotid-Cavernous Sinus Fistula in a Patient with Ehlers-Danlos Syndrome: A Case Study on Selective Transvenous Embolization Using Coils andJournal of neuroendovascular therapy · 2025Article
- Evaluating the diagnostic performance of non-contrast magnetic resonance angiography sequences in the pre-procedural comprehensive analysis of direct carotid cavernous fistula.Neuroradiology · 2024Article
- Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.Circulation. Genomic and precision medicine · 2024Article
- Endovascular intervention to treat spontaneous carotid-cavernous fistula in a patient with Ehlers-Danlos Syndrome with an access site anatomical variant.BJR case reports · 2024Article
- A Case of Spontaneous Carotid-cavernous Fistula in a Patient with Vascular Ehlers-Danlos Syndrome.NMC case report journal · 2024Article
- Vascular Ehlers-Danlos syndrome with a Novel missense COL3A1 gene mutation present with bilateral spontaneous carotid-cavernous fistula: a case report.Acta neurochirurgica · 2023Article
- Percutaneous transjugular approach without arterial monitoring for the treatment of a direct carotid-cavernous fistula with vascular Ehlers-Danlos syndrome: illustrative case.Journal of neurosurgery. Case lessons · 2023Article
- Article
- Headache, vision changes and cranial nerve palsy after head trauma.Journal of the American College of Emergency Physicians open · 2023Article
- Assessment of arterial damage in vascular Ehlers-Danlos syndrome: A retrospective multicentric cohort.Frontiers in cardiovascular medicine · 2022Article
- Ehlers-Danlos Syndrome: Immunologic contrasts and connective tissue comparisons.Journal of translational autoimmunity · 2021Review
- Endovascular Management of Direct Carotid-Cavernous Fistula: Evolution of Cost Effective Sandwich Technique.Journal of neurosciences in rural practice · 2020Article
- A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome.Journal of vascular surgery · 2019Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundVascular 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.
methodsWe conducted a retrospective analysis of a monocentric vEDS cohort along with a literature review regarding sCCF in this condition.
resultsOf 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 patients with direct sCCF (79.4% female, 7.2% sex not reported, median age 31.0 years, IQR [24.0-39.0]). Increased carotid circumferential wall stress, higher carotid distensibility and lower carotid intima-media thickness could contribute to a higher risk for direct sCCF in vEDS. There is no predictive factor for the occurrence of sCCF apart from female sex in vEDS.
conclusionsIn vEDS, anatomical and pathophysiological features of the intra-cavernous internal carotid artery make it prone to shunting in the cavernous sinus, due either to a spontaneous rupture or to a spontaneous dissection with pseudoaneurysm formation. Direct sCCF in seemingly healthy young individuals should be highly suggestive of vEDS and prompt further investigation.
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