{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T15:14:56Z","timestamp":1790522096962,"version":"4.1.0"},"reference-count":15,"publisher":"BMJ","issue":"8","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Heart"],"accepted":{"date-parts":[[2016,1,2]]},"published-print":{"date-parts":[[2016,4,15]]},"abstract":"<jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>This study aimed to determine aortic disease severity in patients with Loeys\u2013Dietz syndrome (LDS).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Thirty-three patients with LDS diagnosed and followed up at our unit were included. After reviewing all family trees, 25 deceased family members with clear clinical suspicion of having had LDS were also included. Clinical presentation, aortic dilation rate by echocardiography and age at aortic surgery, dissection or death were determined.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Median aortic diameter at diagnosis was 36\u2005mm, 43% of the patients aged &gt;40\u2005years had a z-score &lt;2. Median aortic root dilation rate was 0.67\u2005mm\/year (maximum 2.0\u2005mm\/year) over a median follow-up of 2\u2005years (IQR 1.0\u20134.0). In the global cohort, 31\/58 patients reached a clinical endpoint; 19% death, median age: 52\u2005years; 14% dissection, median age: 36\u2005years; 21% aortic surgery, median age: 53\u2005years. As expected, probands had a higher z-score (2.9 vs 1.5, p=0.019) and more often required aortic surgery (33.4% vs 18.2%, p=0.035) compared with family members. <jats:italic>TGFBR2<\/jats:italic> carriers had a higher z-score compared with <jats:italic>TGFBR1<\/jats:italic> carriers (3.2 vs 1.5, p=0.034) and younger age at aortic surgery (HR 4.9, 95% CI 1.5 to 123, p=0.026). Craniofacial severity index was inversely correlated with age at first event (r=\u22120.765, p=0.045).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Although paediatric patients were not properly represented in our cohort, our patients with LDS presented a significant heterogeneity in the severity of aortic disease with large intrafamilial and interfamilial variability, aortic root aneurysm were less frequent and aortic complications less premature than previously depicted. Furthermore, aortic dilation rate was similar to that reported in Marfan syndrome and aortic root diameters appear to be larger in <jats:italic>TGFBR2<\/jats:italic> carriers.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/heartjnl-2015-308535","type":"journal-article","created":{"date-parts":[[2016,2,14]],"date-time":"2016-02-14T20:18:58Z","timestamp":1455481138000},"page":"626-632","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":52,"title":["Heterogeneity of aortic disease severity in patients with Loeys\u2013Dietz syndrome"],"prefix":"10.1136","volume":"102","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4714-2420","authenticated-orcid":false,"given":"Gisela","family":"Teixid\u00f3-Tura","sequence":"first","affiliation":[{"name":"Servei de Cardiologia, Unitat de Marfan, Hospital Universitari, Vall d'Hebron, Universitat Aut\u00f2noma de Barcelona, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2260-2753","authenticated-orcid":false,"given":"Romy","family":"Franken","sequence":"additional","affiliation":[{"name":"Servei de Cardiologia, Unitat de Marfan, Hospital Universitari, Vall d'Hebron, Universitat Aut\u00f2noma de Barcelona, Barcelona, Spain"},{"name":"Interuniversity Cardiology Institute of the Netherlands, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Galuppo","sequence":"additional","affiliation":[{"name":"Servei de Cardiologia, Unitat de Marfan, Hospital Universitari, Vall d'Hebron, Universitat Aut\u00f2noma de Barcelona, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Guti\u00e9rrez Garc\u00eda-Moreno","sequence":"additional","affiliation":[{"name":"Servei de Cardiologia, Unitat de Marfan, Hospital Universitari, Vall d'Hebron, Universitat Aut\u00f2noma de Barcelona, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar","family":"Borregan","sequence":"additional","affiliation":[{"name":"Servei de Gen\u00e8tica, Hospital Universitari, Vall d'Hebron, Universitat Aut\u00f2noma de Barcelona, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara J M","family":"Mulder","sequence":"additional","affiliation":[{"name":"Interuniversity Cardiology Institute of the Netherlands, Utrecht, The Netherlands"},{"name":"Department of Cardiology, Academic Medical Centre, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Garc\u00eda-Dorado","sequence":"additional","affiliation":[{"name":"Servei de Cardiologia, Unitat de Marfan, Hospital Universitari, Vall d'Hebron, Universitat Aut\u00f2noma de Barcelona, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Artur","family":"Evangelista","sequence":"additional","affiliation":[{"name":"Servei de Cardiologia, Unitat de Marfan, Hospital Universitari, Vall d'Hebron, Universitat Aut\u00f2noma de Barcelona, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2016,2,4]]},"reference":[{"key":"2025100703291813000_102.8.626.1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1511"},{"key":"2025100703291813000_102.8.626.2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa055695"},{"key":"2025100703291813000_102.8.626.3","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehu281"},{"key":"2025100703291813000_102.8.626.4","doi-asserted-by":"publisher","DOI":"10.1161\/CIR.0b013e3181d4739e"},{"key":"2025100703291813000_102.8.626.5","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.11"},{"key":"2025100703291813000_102.8.626.6","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.109.887042"},{"key":"2025100703291813000_102.8.626.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjcard.2012.05.063"},{"key":"2025100703291813000_102.8.626.8","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.072785"},{"key":"2025100703291813000_102.8.626.9","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.105.537340"},{"key":"2025100703291813000_102.8.626.10","doi-asserted-by":"publisher","DOI":"10.1136\/heartjnl-2013-304920"},{"key":"2025100703291813000_102.8.626.11","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.062844"},{"key":"2025100703291813000_102.8.626.12","doi-asserted-by":"publisher","DOI":"10.1093\/ejcts\/ezu002"},{"key":"2025100703291813000_102.8.626.13","doi-asserted-by":"publisher","DOI":"10.1097\/HCO.0b013e32833f0220"},{"key":"2025100703291813000_102.8.626.14","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2014.10.050"},{"key":"2025100703291813000_102.8.626.15","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.2005.081638"}],"container-title":["Heart"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/heartjnl-2015-308535","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T10:29:25Z","timestamp":1759832965000},"score":1,"resource":{"primary":{"URL":"https:\/\/heart.bmj.com\/lookup\/doi\/10.1136\/heartjnl-2015-308535"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,2,4]]},"references-count":15,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2016,3,23]]},"published-print":{"date-parts":[[2016,4,15]]}},"alternative-id":["10.1136\/heartjnl-2015-308535"],"URL":"https:\/\/doi.org\/10.1136\/heartjnl-2015-308535","relation":{},"ISSN":["1355-6037","1468-201X"],"issn-type":[{"value":"1355-6037","type":"print"},{"value":"1468-201X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,2,4]]}}}