{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T12:30:57Z","timestamp":1777725057470,"version":"3.51.4"},"reference-count":10,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,6,14]]},"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:p>Vascular Ehlers-Danlos syndrome is caused by mutations of COL3A1 gene coding for type III collagen. The main clinical features involve a propensity to arterial tears leading to several life-threatening conditions and intensive care unit admission. We, herein, report the case of a 34-year-old woman presenting with an aneurysmal subarachnoid haemorrhage. Endovascular coil treatment was attempted; however, the procedure was complicated by dissection of the left iliac artery and abdominal aorta. Hospital management was marked by a series of vascular and haemorrhagic complications. These events, together with some distinctive physical features and medical history, raised the suspicion of vascular type of Ehlers-Danlos syndrome. Neurological evolution was not favourable, and the patient evolved to brain death. Genetic testing was available postmortem and identified a mutation in the COL3A1 gene. This case illustrates the importance of medical history and clinical suspicion for diagnosis, which often goes unnoticed until major complications occur.<\/jats:p>","DOI":"10.1136\/bcr-2021-243132","type":"journal-article","created":{"date-parts":[[2021,7,5]],"date-time":"2021-07-05T11:50:23Z","timestamp":1625485823000},"page":"e243132","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Vascular Ehlers-Danlos syndrome presenting in the ICU as aneurysmal subarachnoid haemorrhage"],"prefix":"10.1136","volume":"14","author":[{"given":"In\u00eas","family":"Pimenta","sequence":"first","affiliation":[{"name":"Intensive Care Department, Hospital Garcia de Orta EPE, Almada, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Varudo","sequence":"additional","affiliation":[{"name":"Intensive Care Department, Hospital Garcia de Orta EPE, Almada, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filipa","family":"Castelao","sequence":"additional","affiliation":[{"name":"Neuroradiology, Hospital Garcia de Orta EPE, Almada, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8539-1092","authenticated-orcid":false,"given":"Filipe Andr\u00e9","family":"Gonzalez","sequence":"additional","affiliation":[{"name":"Intensive Care Department, Hospital Garcia de Orta EPE, Almada, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,7,5]]},"reference":[{"key":"2025082801421512000_14.7.e243132.1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O"},{"key":"2025082801421512000_14.7.e243132.2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31552"},{"key":"2025082801421512000_14.7.e243132.3","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-1"},{"key":"2025082801421512000_14.7.e243132.4","doi-asserted-by":"publisher","DOI":"10.1007\/s11936-006-0004-z"},{"key":"2025082801421512000_14.7.e243132.5","doi-asserted-by":"publisher","DOI":"10.1007\/s11936-996-0018-6"},{"key":"2025082801421512000_14.7.e243132.6","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31553"},{"key":"2025082801421512000_14.7.e243132.7","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200003093421001"},{"key":"2025082801421512000_14.7.e243132.8","doi-asserted-by":"crossref","DOI":"10.4253\/wjge.v5.i8.398","article-title":"Conservative management of small bowel perforation in Ehlers-Danlos syndrome type IV","volume":"5","author":"Allaparthi","year":"2013","journal-title":"World J Gastrointest Endosc"},{"key":"2025082801421512000_14.7.e243132.9","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1007\/s00595-003-2634-z","article-title":"Successful coil embolization for spontaneous arterial rupture in association with Ehlers-Danlos syndrome type IV: report of a case","volume":"34","author":"Sugawara","year":"2004","journal-title":"Surg Today"},{"key":"2025082801421512000_14.7.e243132.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.jvs.2014.01.070"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2021-243132","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T08:42:24Z","timestamp":1756370544000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2021-243132"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7]]},"references-count":10,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2021,7,5]]},"published-print":{"date-parts":[[2021,7]]}},"alternative-id":["10.1136\/bcr-2021-243132"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2021-243132","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7]]}}}