{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T16:18:03Z","timestamp":1783959483573,"version":"3.55.0"},"reference-count":34,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T00:00:00Z","timestamp":1769904000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T00:00:00Z","timestamp":1769904000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,4,18]],"date-time":"2025-04-18T00:00:00Z","timestamp":1744934400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Cardiovascular Revascularization Medicine"],"published-print":{"date-parts":[[2026,2]]},"DOI":"10.1016\/j.carrev.2025.04.027","type":"journal-article","created":{"date-parts":[[2025,4,18]],"date-time":"2025-04-18T02:44:03Z","timestamp":1744944243000},"page":"73-78","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"special_numbering":"C","title":["Supravalvular aortic stenosis - Novel pathogenic ELN variant in siblings with a wide spectrum of clinical cardiovascular features and a long follow-up from infancy to adulthood"],"prefix":"10.1016","volume":"83","author":[{"given":"Sini","family":"Keskinen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jussi","family":"Niemel\u00e4","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannele","family":"Koillinen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Talvikki","family":"Boldt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Arola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.carrev.2025.04.027_bb0005","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1038\/sj.ejhg.5200564","article-title":"Elastin: mutational spectrum in supravalvular aortic stenosis","volume":"8","author":"Metcalfe","year":"2000","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.carrev.2025.04.027_bb0010","doi-asserted-by":"crossref","first-page":"1311","DOI":"10.1161\/01.CIR.24.6.1311","article-title":"Supravalvular aortic stenosis","volume":"24","author":"Williams","year":"1961","journal-title":"Circulation"},{"key":"10.1016\/j.carrev.2025.04.027_bb0015","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1161\/01.CIR.26.6.1235","article-title":"Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance","volume":"26","author":"Beuren","year":"1962","journal-title":"Circulation"},{"key":"10.1016\/j.carrev.2025.04.027_bb0020","doi-asserted-by":"crossref","DOI":"10.1161\/JAHA.123.034048","article-title":"Genetic testing for supravalvar aortic stenosis: what to do when it is not Williams syndrome","volume":"13","author":"Stephens","year":"2024","journal-title":"J Am Heart Assoc"},{"key":"10.1016\/j.carrev.2025.04.027_bb0025","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1038\/s41572-021-00276-z","article-title":"Williams syndrome","volume":"7","author":"Kozel","year":"2021","journal-title":"Nat Rev Dis Primers"},{"key":"10.1016\/j.carrev.2025.04.027_bb0030","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1093\/hmg\/6.7.1021","article-title":"Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis","volume":"6","author":"Li","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.carrev.2025.04.027_bb0035","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1016\/j.ijcard.2018.09.032","article-title":"Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis","volume":"274","author":"Hayano","year":"2019","journal-title":"Int J Cardiol"},{"key":"10.1016\/j.carrev.2025.04.027_bb0040","doi-asserted-by":"crossref","first-page":"1071","DOI":"10.1172\/JCI117057","article-title":"Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene","volume":"93","author":"Ewart","year":"1994","journal-title":"J Clin Invest"},{"key":"10.1016\/j.carrev.2025.04.027_bb0045","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1007\/s004390000285","article-title":"Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay","volume":"106","author":"Urb\u00e1n","year":"2000","journal-title":"Hum Genet"},{"key":"10.1016\/j.carrev.2025.04.027_bb0050","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2022.1059640","article-title":"Identification and characterization of novel elastin gene mutations in eleven families with supravalvular aortic stenosis","volume":"13","author":"Zhou","year":"2022","journal-title":"Front Genet"},{"key":"10.1016\/j.carrev.2025.04.027_bb0055","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1038\/ejhg.2009.181","article-title":"Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis","volume":"18","author":"Micale","year":"2010","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.carrev.2025.04.027_bb0060","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.matbio.2023.02.003","article-title":"A new mouse model of elastin haploinsufficiency highlights the importance of elastin to vascular development and blood pressure regulation","volume":"117","author":"Brengle","year":"2023","journal-title":"Matrix Biol"},{"key":"10.1016\/j.carrev.2025.04.027_bb0065","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1016\/j.matbio.2018.02.021","article-title":"Elastin-driven genetic diseases","volume":"71-72","author":"Duque Lasio","year":"2018","journal-title":"Matrix Biol"},{"key":"10.1016\/j.carrev.2025.04.027_bb0070","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.986","article-title":"Novel ELN mutation in a Japanese family with a severe form of supravalvular aortic stenosis","volume":"7","author":"Sugiyama","year":"2019","journal-title":"Mol Genet Genomic Med"},{"key":"10.1016\/j.carrev.2025.04.027_bb0075","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1016\/j.ejmg.2016.11.004","article-title":"Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm","volume":"60","author":"Jelsig","year":"2017","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.carrev.2025.04.027_bb0080","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1007\/s00431-002-1111-9","article-title":"Spectrum of arterial obstructions caused by one elastin gene point mutation","volume":"162","author":"Koch","year":"2003","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.carrev.2025.04.027_bb0085","doi-asserted-by":"crossref","first-page":"297","DOI":"10.2350\/06-01-0014.1","article-title":"Pathologic and molecular analysis in a family with rare mixed supravalvar aortic and pulmonic stenosis","volume":"9","author":"Arrington","year":"2006","journal-title":"Pediatr Dev Pathol"},{"key":"10.1016\/j.carrev.2025.04.027_bb0090","doi-asserted-by":"crossref","first-page":"H189","DOI":"10.1152\/ajpheart.00087.2018","article-title":"Elastin, arterial mechanics, and cardiovascular disease","volume":"315","author":"Cocciolone","year":"2018","journal-title":"Am J Physiol Heart Circ Physiol"},{"key":"10.1016\/j.carrev.2025.04.027_bb0095","doi-asserted-by":"crossref","first-page":"1625","DOI":"10.1016\/0735-1097(90)92837-R","article-title":"Natural history of supravalvular aortic stenosis and pulmonary artery stenosis","volume":"15","author":"Wren","year":"1990","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.carrev.2025.04.027_bb0100","doi-asserted-by":"crossref","first-page":"2442","DOI":"10.1093\/eurheartj\/ehs206","article-title":"Cardiac outcomes in adults with supravalvar aortic stenosis","volume":"33","author":"Greutmann","year":"2012","journal-title":"Eur Heart J"},{"key":"10.1016\/j.carrev.2025.04.027_bb0105","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGEN.120.002971","article-title":"Genetic diagnosis and the severity of cardiovascular phenotype in patients with elastin arteriopathy","volume":"13","author":"Min","year":"2020","journal-title":"Circ Genom Precis Med"},{"key":"10.1016\/j.carrev.2025.04.027_bb0110","doi-asserted-by":"crossref","first-page":"1783","DOI":"10.1172\/JCI4487","article-title":"Novel arterial pathology in mice and humans hemizygous for elastin","volume":"102","author":"Li","year":"1998","journal-title":"J Clin Invest"},{"key":"10.1016\/j.carrev.2025.04.027_bb0115","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1086\/341035","article-title":"Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome","volume":"71","author":"Urb\u00e1n","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.carrev.2025.04.027_bb0120","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1161\/CIRCGENETICS.112.962860","article-title":"Supravalvular aortic stenosis: elastin arteriopathy","volume":"5","author":"Merla","year":"2012","journal-title":"Circ Cardiovasc Genet"},{"key":"10.1016\/j.carrev.2025.04.027_bb0125","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1136\/jmg.26.2.86","article-title":"Familial supravalvular aortic stenosis: a genetic study","volume":"26","author":"Chiarella","year":"1989","journal-title":"J Med Genet"},{"key":"10.1016\/j.carrev.2025.04.027_bb0130","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1007\/s00246-022-03089-3","article-title":"Sudden cardiac arrest during a sedated cardiac magnetic resonance study in a nonsyndromic child with evolving supravalvar aortic stenosis due to familial ELN mutation","volume":"44","author":"Markush","year":"2023","journal-title":"Pediatr Cardiol"},{"key":"10.1016\/j.carrev.2025.04.027_bb0135","doi-asserted-by":"crossref","first-page":"1202","DOI":"10.1016\/j.athoracsur.2019.04.094","article-title":"Long-term surgical prognosis of primary supravalvular aortic stenosis repair","volume":"108","author":"Wu","year":"2019","journal-title":"Ann Thorac Surg"},{"key":"10.1016\/j.carrev.2025.04.027_bb0140","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1093\/ejcts\/ezx245","article-title":"Early and late outcomes after surgical repair of congenital supravalvular aortic stenosis: a European Congenital Heart Surgeons Association multicentric study","volume":"52","author":"Padalino","year":"2017","journal-title":"Eur J Cardiothorac Surg"},{"key":"10.1016\/j.carrev.2025.04.027_bb0145","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1111\/pan.12967","article-title":"Perioperative morbidity in children with elastin arteriopathy","volume":"26","author":"Latham","year":"2016","journal-title":"Paediatr Anaesth"},{"key":"10.1016\/j.carrev.2025.04.027_bb0150","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1253\/jcj.60.311","article-title":"Spontaneous regression of peripheral pulmonary artery stenosis in Williams syndrome","volume":"60","author":"Miyamura","year":"1996","journal-title":"Jpn Circ J"},{"key":"10.1016\/j.carrev.2025.04.027_bb0155","doi-asserted-by":"crossref","first-page":"1848","DOI":"10.1213\/ane.0b013e3181875a4d","article-title":"Congenital supravalvular aortic stenosis and sudden death associated with anesthesia: what\u2019s the mystery?","volume":"107","author":"Burch","year":"2008","journal-title":"Anesth Analg"},{"key":"10.1016\/j.carrev.2025.04.027_bb0160","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1017\/S1047951110001563","article-title":"A family with a new elastin gene mutation: broad clinical spectrum, including sudden cardiac death","volume":"21","author":"Jakob","year":"2011","journal-title":"Cardiol Young"},{"key":"10.1016\/j.carrev.2025.04.027_bb0165","doi-asserted-by":"crossref","DOI":"10.1093\/ejcts\/ezad360","article-title":"Long-term surgical outcomes of congenital supravalvular aortic stenosis: a systematic review, meta-analysis and microsimulation study","volume":"65","author":"Meccanici","year":"2024","journal-title":"Eur J Cardiothorac Surg"},{"key":"10.1016\/j.carrev.2025.04.027_bb0170","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1016\/j.athoracsur.2024.01.020","article-title":"Long-term outcomes after surgical intervention for congenital supravalvar aortic stenosis in children","volume":"117","author":"Zinyandu","year":"2024","journal-title":"Ann Thorac Surg"}],"container-title":["Cardiovascular Revascularization Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1553838925001782?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1553838925001782?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T11:15:18Z","timestamp":1771499718000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1553838925001782"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2]]},"references-count":34,"alternative-id":["S1553838925001782"],"URL":"https:\/\/doi.org\/10.1016\/j.carrev.2025.04.027","relation":{},"ISSN":["1553-8389"],"issn-type":[{"value":"1553-8389","type":"print"}],"subject":[],"published":{"date-parts":[[2026,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Supravalvular aortic stenosis - Novel pathogenic ELN variant in siblings with a wide spectrum of clinical cardiovascular features and a long follow-up from infancy to adulthood","name":"articletitle","label":"Article Title"},{"value":"Cardiovascular Revascularization Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.carrev.2025.04.027","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}