{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T06:58:24Z","timestamp":1763535504311},"reference-count":11,"publisher":"Cambridge University Press (CUP)","issue":"5","license":[{"start":{"date-parts":[[2018,2,15]],"date-time":"2018-02-15T00:00:00Z","timestamp":1518652800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":["www.cambridge.org"],"crossmark-restriction":true},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2018,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Aneurysm\u2013osteoarthritis syndrome is a recently discovered inherited autosomal dominant connective tissue disease caused by <jats:italic>SMAD3<\/jats:italic> mutations. Aneurysm\u2013osteoarthritis syndrome is responsible for 2% of familial thoracic aortic aneurysms and dissections and is characterised by aneurysms, dissections, and tortuosity throughout the arterial tree in combination with osteoarthritis. Early-onset osteoarthritis is present in almost all patients. We present the case of a non-syndromic young boy with <jats:italic>SMAD3<\/jats:italic> mutation isolated from the dilated aortic root and ascending aorta without osteoarthritis.<\/jats:p>","DOI":"10.1017\/s1047951118000082","type":"journal-article","created":{"date-parts":[[2018,2,15]],"date-time":"2018-02-15T03:55:19Z","timestamp":1518666919000},"page":"765-767","update-policy":"http:\/\/dx.doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":5,"title":["Isolated aortic dilation without osteoarthritis: a case of <i>SMAD3<\/i> mutation"],"prefix":"10.1017","volume":"28","author":[{"given":"Jose","family":"Arroyave","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan Manuel","family":"Carretero","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Domenico","family":"Gruosso","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2018,2,15]]},"reference":[{"key":"S1047951118000082_ref5","first-page":"448","article-title":"The modified Bentall procedure: a single-institution experience in 249 patients with a maximum follow up of 21.5 years","volume":"25","author":"Celiento","year":"2016","journal-title":"J Heart Valve Dis"},{"key":"S1047951118000082_ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2010.02.015"},{"key":"S1047951118000082_ref3","doi-asserted-by":"publisher","DOI":"10.1186\/1532-429X-10-56"},{"key":"S1047951118000082_ref2","first-page":"220","article-title":"The need for standardized methods for measuring the aorta multimodality core lab experience from the GenTAC registry","volume":"9","author":"Frank","year":"2016","journal-title":"JACC Cardiovasc Imaging"},{"key":"S1047951118000082_ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.echo.2008.02.006"},{"key":"S1047951118000082_ref6","first-page":"968135","article-title":"A novel mutation of SMAD3 identified in a Chinese family with aneurysms-osteoarthritis syndrome","volume":"2015","author":"Wenwen","year":"2015","journal-title":"Biomed Res Int"},{"key":"S1047951118000082_ref7","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1016\/j.ejmg.2017.02.001","article-title":"A novel SMAD3 mutation caused multiple aneurysms in a patient without osteoarthritis symptoms","volume":"60","author":"Courtois","year":"2017","journal-title":"Eur J Med Genet"},{"key":"#cr-split#-S1047951118000082_ref8.1","unstructured":"1. Loeys BL, Dietz HC . Loeys-Dietz syndrome. 2008 Feb 28 [Updated 2013 Jul 11]. In: Pagon RA, Adam MP, Ardinger HH et al."},{"key":"#cr-split#-S1047951118000082_ref8.2","unstructured":"2. (eds). GeneReviews??. University of Washington, Seattle, WA, 1993-2016. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1133\/"},{"key":"S1047951118000082_ref9","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.11"},{"key":"S1047951118000082_ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2011.12.052"}],"container-title":["Cardiology in the Young"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1047951118000082","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,14]],"date-time":"2019-04-14T17:39:03Z","timestamp":1555263543000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1047951118000082\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,2,15]]},"references-count":11,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2018,5]]}},"alternative-id":["S1047951118000082"],"URL":"https:\/\/doi.org\/10.1017\/s1047951118000082","relation":{},"ISSN":["1047-9511","1467-1107"],"issn-type":[{"value":"1047-9511","type":"print"},{"value":"1467-1107","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,2,15]]},"assertion":[{"value":"\u00a9 Cambridge University Press 2018\u00a0","name":"license","label":"License","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}}]}}