{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T09:19:05Z","timestamp":1790414345049,"version":"4.1.0"},"reference-count":29,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,2,22]],"date-time":"2019-02-22T00:00:00Z","timestamp":1550793600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:p>Vascular Ehlers\u2013Danlos syndrome (vEDS) is a connective tissue disorder due to defective type III collagen production and is associated with arterial rupture, spontaneous intestinal perforation, and gravid uterine rupture. Spontaneous pneumothorax and\/or hemothorax (P\/HTX) also occurs in vEDS patients. The temporal relation of pulmonary manifestations to arterial and intestinal complications in vEDS has not been well described. This was investigated in a multi\u2010institutional retrospective case series of vEDS patients with confirmatory testing for <jats:italic>COL3A1<\/jats:italic> mutation between 2000 and 2012. Data abstracted included demographics, family histories, presentation, and management of associated complications. Ninety\u2010six cases (39% males, mean age 38.6\u2009\u00b1\u200915.5\u2009years, range 8\u201379) had confirmatory testing for vEDS. P\/HTX was documented in 17 (17.7%) cases. Most P\/HTX preceded the diagnosis of vEDS (81%). Diagnosis of vEDS was made after arterial or intestinal complications at a mean of 7 years (range 0\u201326) post the initial P\/HTX. In conclusion, spontaneous P\/HTX is an early manifestation of vEDS frequently preceding an arterial complication or intestinal perforation. Thus, a spontaneous P\/HTX in a young patient should trigger a differential diagnosis that includes vEDS. This should lead to an investigation of other vEDS features and subsequent genetic testing if vEDS features are present.<\/jats:p>","DOI":"10.1002\/ajmg.a.61094","type":"journal-article","created":{"date-parts":[[2019,2,22]],"date-time":"2019-02-22T12:35:51Z","timestamp":1550838951000},"page":"797-802","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":41,"title":["Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers\u2013Danlos syndrome"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8501-2750","authenticated-orcid":false,"given":"Sherene","family":"Shalhub","sequence":"first","affiliation":[{"name":"Division of Vascular Surgery, Department of Surgery University of Washington School of Medicine  Seattle WA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enid","family":"Neptune","sequence":"additional","affiliation":[{"name":"Pulmonary and Critical Care Medicine The Johns Hopkins Hospital  Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Desiree E.","family":"Sanchez","sequence":"additional","affiliation":[{"name":"Division of Vascular Surgery, Department of Surgery University of Washington School of Medicine  Seattle WA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anahita","family":"Dua","sequence":"additional","affiliation":[{"name":"Department of Surgery Stanford University  Stanford California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nelson","family":"Arellano","sequence":"additional","affiliation":[{"name":"Department of surgery, Centro Clinico Quirurgico Hospital Del Dia Norte  Guayaquil Ecuador"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nazli B.","family":"McDonnell","sequence":"additional","affiliation":[{"name":"Colorado Springs VA Medical Clinic, Colorado Springs  Colorado"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dianna M.","family":"Milewicz","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Internal Medicine The University of Texas Health Science Center at Houston  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,2,22]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1378\/chest.13-3002"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/thx.40.4.300"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005384121649"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O"},{"key":"e_1_2_8_6_1","article-title":"Birt\u2010Hogg\u2010Dube syndrome: Spontaneous pneumothorax as a first symptom","volume":"2018","author":"Bock K.","year":"2018","journal-title":"BML Case Reports"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31553"},{"issue":"6","key":"e_1_2_8_8_1","first-page":"971","article-title":"Lung collagen in type IV Ehlers\u2013Danlos syndrome: Ultrastructural and biochemical studies","volume":"122","author":"Clark J. 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