{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T07:07:41Z","timestamp":1777878461475,"version":"3.51.4"},"reference-count":15,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2017,7,4]],"date-time":"2017-07-04T00:00:00Z","timestamp":1499126400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["World J Pediatr Congenit Heart Surg"],"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:p>Aortic aneurysms requiring surgery in early childhood are rare. Herein we describe the case of a three-year-old with massive aneurysmal aortic dilation secondary to the rare and often lethal genetic disorder, cutis laxa. Initial thoracic aortic aneurysm gene panel was negative. Parents of the child were not known to be consanguineous, but high-density SNP array revealed several regions of homozygosity. This prompted targeted sequence analysis that identified a novel homozygous missense mutation in the gene for cutis laxa, EFEMP2. The patient underwent aortic valve\u2013sparing aortic root and ascending aorta replacement and total aortic arch replacement, with continuous, moderately hypothermic cardiopulmonary bypass, using a dual cannulation technique. He was discharged well on the third postoperative day and remains free of aneurysmal disease at two-year follow-up.<\/jats:p>","DOI":"10.1177\/2150135117698458","type":"journal-article","created":{"date-parts":[[2017,12,31]],"date-time":"2017-12-31T11:39:08Z","timestamp":1514720348000},"page":"376-379","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":5,"title":["Valve-Sparing Root and Total Arch Replacement for Cutis Laxa Aortopathy"],"prefix":"10.1177","volume":"10","author":[{"given":"Anji T.","family":"Yetman","sequence":"first","affiliation":[{"name":"Cardiology, Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"Hammel","sequence":"additional","affiliation":[{"name":"Cardiovascular Surgery, University of Nebraska Medical Center, Omaha, NE, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer N.","family":"Sanmann","sequence":"additional","affiliation":[{"name":"Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lois J.","family":"Starr","sequence":"additional","affiliation":[{"name":"Genetic Medicine, University of Nebraska Medical Center, Omaha, NE, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2017,7,4]]},"reference":[{"key":"bibr1-2150135117698458","doi-asserted-by":"publisher","DOI":"10.1007\/s00330-014-3205-y"},{"key":"bibr2-2150135117698458","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-61"},{"key":"bibr3-2150135117698458","doi-asserted-by":"publisher","DOI":"10.2350\/11-03-1010-CR.1"},{"issue":"5","key":"bibr4-2150135117698458","first-page":"671","volume":"173","author":"Hebson C","year":"2014","journal-title":"Eur J Pediatr"},{"key":"bibr5-2150135117698458","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01204.x"},{"key":"bibr6-2150135117698458","doi-asserted-by":"publisher","DOI":"10.1086\/504304"},{"key":"bibr7-2150135117698458","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31980"},{"key":"bibr8-2150135117698458","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.45"},{"key":"bibr9-2150135117698458","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35827"},{"key":"bibr10-2150135117698458","doi-asserted-by":"publisher","DOI":"10.1177\/2150135113492346"},{"key":"bibr11-2150135117698458","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2006-2886"},{"key":"bibr12-2150135117698458","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjcard.2006.05.032"},{"key":"bibr13-2150135117698458","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35852"},{"key":"bibr14-2150135117698458","doi-asserted-by":"publisher","DOI":"10.1016\/j.athoracsur.2012.12.054"},{"key":"bibr15-2150135117698458","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv308"}],"container-title":["World Journal for Pediatric and Congenital Heart Surgery"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2150135117698458","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2150135117698458","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2150135117698458","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T23:20:43Z","timestamp":1777591243000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2150135117698458"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,7,4]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2019,5]]}},"alternative-id":["10.1177\/2150135117698458"],"URL":"https:\/\/doi.org\/10.1177\/2150135117698458","relation":{},"ISSN":["2150-1351","2150-136X"],"issn-type":[{"value":"2150-1351","type":"print"},{"value":"2150-136X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,7,4]]}}}