{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T09:46:34Z","timestamp":1785836794482,"version":"3.56.0"},"reference-count":25,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T00:00:00Z","timestamp":1777420800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T00:00:00Z","timestamp":1777420800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Hypermobile\u00a0Ehlers\u2013Danlos syndrome (hEDS), while generally free from severe vascular complications, may occasionally present with cardiac and vascular abnormalities that warrant specific investigation. While studies have been conducted on the prevalence of cardiac involvement, none have focused on vascular aspects. This retrospective study was performed to investigate the prevalence of aneurysms in patients diagnosed with hEDS based on the 2017 International diagnostic criteria, to evaluate the need for systematic vascular screening. Fifty\u2010five patients with hEDS were included. All patients had undergone computed tomography angiography of the chest, abdomen, pelvis, and sometimes the head during their initial assessment. The images were analyzed to determine the prevalence of aneurysms, and a potential link to cardiovascular risk factors was examined. Aneurysms were identified in four patients (7.3%). These were located in the thoracic aorta, splenic artery, or the circle of Willis. There was no significant association with cardiovascular risk factors. While this study provides an initial evaluation of the prevalence of aneurysms in hEDS, its results should be interpreted with caution. Our findings highlight the need for larger\u2010scale studies with rigorous methodology to accurately characterize the vascular abnormalities associated with hEDS and determine their clinical significance.<\/jats:p>","DOI":"10.1002\/ajmg.a.70176","type":"journal-article","created":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T04:54:16Z","timestamp":1777524856000},"page":"2080-2087","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Vascular Abnormalities in Hypermobile Ehlers\u2013Danlos Syndrome: A Retrospective Cohort Study"],"prefix":"10.1002","volume":"200","author":[{"given":"Thomas","family":"Gehin","sequence":"first","affiliation":[{"name":"AP\u2010HP, DMU Smart Imaging, Raymond Poincar\u00e9 University Hospital  Garches France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2289-2738","authenticated-orcid":false,"given":"Malika","family":"Foy","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Ehlers\u2010Danlos Syndrome Referral Center, Raymond Poincar\u00e9 University Hospital  Garches France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Carlier","sequence":"additional","affiliation":[{"name":"AP\u2010HP, DMU Smart Imaging, Raymond Poincar\u00e9 University Hospital  Garches France"},{"name":"UR20261, PHARMAcoligo, Paris\u2010Saclay University, UVSQ  Versailles France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentin","family":"Renault","sequence":"additional","affiliation":[{"name":"AP\u2010HP, DMU Smart Imaging, Raymond Poincar\u00e9 University Hospital  Garches France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karelle","family":"Benistan","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Ehlers\u2010Danlos Syndrome Referral Center, Raymond Poincar\u00e9 University Hospital  Garches France"},{"name":"UR20261, PHARMAcoligo, Paris\u2010Saclay University, UVSQ  Versailles France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,4,29]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40364"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.3171\/jns.1989.70.4.0551"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmv.2014.12.062"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.douler.2018.07.010"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.138"},{"key":"e_1_2_13_7_1","unstructured":"Farber M. 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