Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Fortin F, Di Muzio B, et al. Vascular Ehlers Danlos syndrome. Reference article, Radiopaedia.org (Accessed on 25 Apr 2024) https://doi.org/10.53347/rID-29500
Vascular Ehlers-Danlos syndrome (EDS) or type IV Ehlers-Danlos syndrome (EDS 4) is the most malignant form of Ehlers-Danlos syndrome. This form is often accompanied by neurovascular complications secondary to vessel dissections and/or aneurysms.
Epidemiology
Vascular EDS represents about 4% of all EDS patients 2.
Pathology
This results from a mutation in the COL3A1 gene coding for type III procollagen which leads to fragility of connective tissues with potential arterial, gastrointestinal and uterine ruptures.
Genetics
This form can carry an autosomal dominant inheritance. However, up to half of the cases can result from spontaneous mutations 1.
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1. Horowitz MB, Purdy PD, Valentine RJ et-al. Remote vascular catastrophes after neurovascular interventional therapy for type 4 Ehlers-Danlos Syndrome. AJNR Am J Neuroradiol. 2000;21 (5): 974-6. AJNR Am J Neuroradiol (full text) - Pubmed citation
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2. Zilocchi M, Macedo TA, Oderich GS et-al. Vascular Ehlers-Danlos syndrome: imaging findings. AJR Am J Roentgenol. 2007;189 (3): 712-9. doi:10.2214/AJR.07.2370 - Pubmed citation
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3. Germain DP, Herrera-Guzman Y. Vascular Ehlers-Danlos syndrome. Ann. Genet. 2004;47 (1): 1-9. Pubmed citation
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4. Oderich GS, Panneton JM, Bower TC et-al. The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience. J. Vasc. Surg. 2005;42 (1): 98-106. doi:10.1016/j.jvs.2005.03.053 - Pubmed citation
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5. Pepin M, Schwarze U, Superti-Furga A et-al. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N. Engl. J. Med. 2000;342 (10): 673-80. doi:10.1056/NEJM200003093421001 - Pubmed citation
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6. Watanabe A, Shimada T. Vascular type of Ehlers-Danlos syndrome. J Nippon Med Sch. 2009;75 (5): 254-61. Pubmed citation
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