{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,12]],"date-time":"2025-09-12T19:17:52Z","timestamp":1757704672358,"version":"3.40.5"},"reference-count":8,"publisher":"Cambridge University Press (CUP)","issue":"12","license":[{"start":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T00:00:00Z","timestamp":1696809600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":["cambridge.org"],"crossmark-restriction":true},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a case of hypoplastic left heart syndrome and with subsequent aortopathy and then found to have hereditary haemorrhagic telangiectasia\/juvenile polyposis syndrome due to a germline SMAD4 pathologic variant. The patient\u2019s staged palliation was complicated by the development of neoaortic aneurysms, arteriovenous malformations, and gastrointestinal bleeding thought to be secondary to Fontan circulation, but workup revealed a SMAD4 variant consistent with hereditary haemorrhagic telangiectasia\/juvenile polyposis syndrome. This case underscores the importance of genetic modifiers in CHD, especially those with Fontan physiology.<\/jats:p>","DOI":"10.1017\/s104795112300344x","type":"journal-article","created":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T10:24:08Z","timestamp":1696847048000},"page":"2667-2669","update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":1,"title":["Hereditary haemorrhagic telangiectasia and SMAD4 mutation in a patient with complex single ventricle heart disease"],"prefix":"10.1017","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-1495-6584","authenticated-orcid":false,"given":"Madison A.","family":"Grasty","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Constantine D.","family":"Mavroudis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aaron G.","family":"DeWitt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benjamin W.","family":"Kozyak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Mamula","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suzanne P.","family":"MacFarland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad A.K.","family":"Nuri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lindsay S.","family":"Rogers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan J.","family":"Rome","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. William","family":"Gaynor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David J.","family":"Goldberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2023,10,9]]},"reference":[{"key":"S104795112300344X_ref6","doi-asserted-by":"publisher","DOI":"10.1253\/circj.CJ-13-1264"},{"key":"S104795112300344X_ref8","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(03)00715-0"},{"key":"S104795112300344X_ref3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35659"},{"key":"S104795112300344X_ref1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000306)91:1<66::AID-AJMG12>3.0.CO;2-P"},{"key":"S104795112300344X_ref5","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0826-1"},{"key":"S104795112300344X_ref4","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)15732-2"},{"key":"S104795112300344X_ref7","doi-asserted-by":"publisher","DOI":"10.1136\/heartjnl-2016-309615"},{"key":"S104795112300344X_ref2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37093"}],"container-title":["Cardiology in the Young"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S104795112300344X","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,12,13]],"date-time":"2023-12-13T01:31:59Z","timestamp":1702431119000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S104795112300344X\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,9]]},"references-count":8,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2023,12]]}},"alternative-id":["S104795112300344X"],"URL":"https:\/\/doi.org\/10.1017\/s104795112300344x","relation":{},"ISSN":["1047-9511","1467-1107"],"issn-type":[{"type":"print","value":"1047-9511"},{"type":"electronic","value":"1467-1107"}],"subject":[],"published":{"date-parts":[[2023,10,9]]},"assertion":[{"value":"\u00a9 The Author(s), 2023. Published by Cambridge University Press","name":"copyright","label":"Copyright","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}}]}}