{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T02:50:48Z","timestamp":1769741448205,"version":"3.49.0"},"reference-count":36,"publisher":"Cambridge University Press (CUP)","issue":"1","license":[{"start":{"date-parts":[[2010,11,16]],"date-time":"2010-11-16T00:00:00Z","timestamp":1289865600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2011,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Supravalvular aortic stenosis is associated with the Williams\u2013Beuren syndrome, but it also occurs in a non-syndromatic congenital form. An<jats:italic>elastin<\/jats:italic>gene mutation of chromosome 7q11.23 is responsible in both cases. The vascular features are identical. These patients have a higher risk of sudden death, particularly when undergoing diagnostic or surgical procedures. We report the account of a family with a new mutation in the<jats:italic>elastin<\/jats:italic>gene. Screening over three generations revealed eight affected individuals. The cardiac and vascular malformations ranged from mild asymptomatic supravalvular aortic stenosis and isolated dysplastic atrioventricular valves to diffuse arterial hypoplasia. Two infants presented arteries affected at multiple locations, including the left coronary artery. Both died of sudden cardiac death and myocardial ischaemia, one while under general anaesthesia for cardiac catheterisation, and the other perioperatively. We discuss the pathophysiological aspects in these patients that deserve consideration before any general anaesthesia is administered.<\/jats:p>","DOI":"10.1017\/s1047951110001563","type":"journal-article","created":{"date-parts":[[2010,11,16]],"date-time":"2010-11-16T14:41:12Z","timestamp":1289918472000},"page":"62-65","source":"Crossref","is-referenced-by-count":18,"title":["A family with a new<i>elastin<\/i>gene mutation: broad clinical spectrum, including sudden cardiac death"],"prefix":"10.1017","volume":"21","author":[{"given":"Andr\u00e9","family":"Jakob","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheila","family":"Unger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raoul","family":"Arnold","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jochen","family":"Grohmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cornelia","family":"Kraus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Schlensak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brigitte","family":"Stiller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2010,11,16]]},"reference":[{"key":"S1047951110001563_ref28","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(85)80298-5"},{"key":"S1047951110001563_ref25","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.8.554"},{"key":"S1047951110001563_ref20","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-008-9323-z"},{"key":"S1047951110001563_ref35","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2005.11.009"},{"key":"S1047951110001563_ref27","doi-asserted-by":"publisher","DOI":"10.1016\/0003-4975(91)90026-M"},{"key":"S1047951110001563_ref15","doi-asserted-by":"publisher","DOI":"10.1038\/ng0796-272"},{"key":"S1047951110001563_ref34","first-page":"287","article-title":"Cardiac arrest under anesthesia in a pediatric patient with Williams syndrome: a case report","volume":"73","author":"Bragg","year":"2005","journal-title":"AANA J"},{"key":"S1047951110001563_ref21","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.107.153510"},{"key":"S1047951110001563_ref33","doi-asserted-by":"publisher","DOI":"10.1053\/jcan.2002.128407"},{"key":"S1047951110001563_ref32","doi-asserted-by":"publisher","DOI":"10.1097\/01.hco.0000126581.89648.10"},{"key":"S1047951110001563_ref6","doi-asserted-by":"publisher","DOI":"10.1172\/JCI117057"},{"key":"S1047951110001563_ref7","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980616)78:1<82::AID-AJMG17>3.0.CO;2-K"},{"key":"S1047951110001563_ref26","doi-asserted-by":"publisher","DOI":"10.1016\/S1010-7940(00)00647-3"},{"key":"S1047951110001563_ref36","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2007.05.080"},{"key":"S1047951110001563_ref4","first-page":"214","article-title":"Genetic aspects of supravalvular aortic stenosis","volume":"13","author":"Morris","year":"1998","journal-title":"Curr Opin Cardiol"},{"key":"S1047951110001563_ref5","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200564"},{"key":"S1047951110001563_ref18","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80696-1"},{"key":"S1047951110001563_ref1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90168-P"},{"key":"S1047951110001563_ref10","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.7.1021"},{"key":"S1047951110001563_ref16","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80077-X"},{"key":"S1047951110001563_ref3","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-005-0885-8"},{"key":"S1047951110001563_ref14","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.9.1677"},{"key":"S1047951110001563_ref29","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-004-0845-8"},{"key":"S1047951110001563_ref8","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9149(99)00032-6"},{"key":"S1047951110001563_ref11","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.7.1029"},{"key":"S1047951110001563_ref24","doi-asserted-by":"publisher","DOI":"10.1016\/S1054-8807(00)00053-3"},{"key":"S1047951110001563_ref2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.8.3226"},{"key":"S1047951110001563_ref17","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(96)70042-2"},{"key":"S1047951110001563_ref19","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30012"},{"key":"S1047951110001563_ref12","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1007\/s004390050926","article-title":"Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts","volume":"104","author":"Urban","year":"1999","journal-title":"Hum Genet"},{"key":"S1047951110001563_ref30","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050705"},{"key":"S1047951110001563_ref13","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000214)90:4<270::AID-AJMG2>3.0.CO;2-R"},{"key":"S1047951110001563_ref9","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(2001)17:1<81::AID-HUMU30>3.0.CO;2-X"},{"key":"S1047951110001563_ref31","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.103.17.2165"},{"key":"S1047951110001563_ref23","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5223(97)70112-0"},{"key":"S1047951110001563_ref22","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/S0022-5223(94)70213-6","article-title":"Pathology of coronary arteries, myocardium, and great arteries in supravalvular aortic stenosis. Report of five cases with implications for surgical treatment","volume":"108","author":"van Son","year":"1994","journal-title":"J Thorac Cardiovasc Surg"}],"container-title":["Cardiology in the Young"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1047951110001563","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,6,13]],"date-time":"2020-06-13T21:24:09Z","timestamp":1592083449000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1047951110001563\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,11,16]]},"references-count":36,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2011,2]]}},"alternative-id":["S1047951110001563"],"URL":"https:\/\/doi.org\/10.1017\/s1047951110001563","relation":{},"ISSN":["1047-9511","1467-1107"],"issn-type":[{"value":"1047-9511","type":"print"},{"value":"1467-1107","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,11,16]]}}}