{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,13]],"date-time":"2026-09-13T00:33:58Z","timestamp":1789259638442,"version":"build-2803163510"},"reference-count":27,"publisher":"BMJ","issue":"2","funder":[{"DOI":"10.13039\/501100017562","name":"Temerty Family Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100017562","id-type":"DOI","asserted-by":"publisher"}]},{"name":"NIH","award":["NIH R01HL109942"],"award-info":[{"award-number":["NIH R01HL109942"]}]},{"name":"Pam and Ron Rubin Fund at Washington University in St Louis School of Medicine"},{"name":"Neidorff Aortopathy and Master Clinician in Cardiology Fellowship Program at Washington University in St Louis School of Medicine"},{"name":"Genetic Aortic Disorders Association Canada"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2024,11,20]]},"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Pathogenic variants in <jats:italic>TGFB3<\/jats:italic> may lead to a syndromic genetic aortopathy. Heritable thoracic aortic disease (HTAD) and arterial events may occur in <jats:italic>TGFB3<\/jats:italic>-related disease but there are limited outcomes data on vascular events in this condition.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Clinical data, phenotypical features and aortic outcomes in individuals with pathogenic\/likely pathogenic (P\/LP) <jats:italic>TGFB3<\/jats:italic> variants enrolled in the Montalcino Aortic Consortium registry were reviewed.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>34 individuals (56% male, median age 42 years, IQR 17\u201349, range 3\u201374 years) with P\/LP <jats:italic>TGFB3<\/jats:italic> variants were studied. Craniofacial, cutaneous and musculoskeletal features seen in Loeys-Dietz syndrome were variably present. Extra-aortic cardiovascular features included arterial tortuosity (25%), extra-aortic arterial aneurysms (6%) and mitral valve prolapse (21%).<\/jats:p>\n                  <jats:p>Aortic dilation (Z-Score&gt;2) was present in 10 individuals (29%) and aortic dissection occurred in 2 (6%). Type A aortic dissection occurred in two patients (aged between 55 years and 60 years), and one of these patients experienced a type B aortic dissection 6 years later. Seven adults (median age 62 years, range 32\u201369 years) with aortic root dilation (41\u201349\u2009mm) are being followed. No patients have undergone prophylactic aortic surgery. Twenty-five per cent of children have aortic dilation. Sixty-eight per cent of the entire cohort remains free of aortic disease. No deaths have occurred.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>\n                     <jats:italic>TGFB3<\/jats:italic>-related HTAD is characterised by late-onset and less penetrant thoracic aortic and arterial disease compared with other transforming growth factor \u03b2 HTAD. Based on our data, a larger aortic size threshold for prophylactic aortic surgery is appropriate in patients with <jats:italic>TGFB3<\/jats:italic>-related HTAD compared with HTAD due to <jats:italic>TGFBR1<\/jats:italic> or <jats:italic>TGFBR2<\/jats:italic> variants.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg-2024-110251","type":"journal-article","created":{"date-parts":[[2024,12,9]],"date-time":"2024-12-09T13:20:44Z","timestamp":1733750444000},"page":"82-88","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":11,"title":["Aortic and arterial manifestations and clinical features in <i>TGFB3<\/i>-related heritable thoracic aortic disease: results from the Montalcino Aortic Consortium"],"prefix":"10.1136","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6416-5566","authenticated-orcid":false,"given":"Michelle Su-Anne","family":"Lim","sequence":"first","affiliation":[{"name":"Cardiovascular Division, Department of Medicine, Washington University in St Louis School of Medicine, St Louis, Missouri, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7402-3104","authenticated-orcid":false,"given":"Dong-Chuan","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, The University of Texas Health Science Center at Houston John P and Katherine G McGovern Medical School, Houston, Texas, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Walter","family":"Velasco Torrez","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, The University of Texas Health Science Center at Houston John P and Katherine G McGovern Medical School, Houston, Texas, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Lai","sequence":"additional","affiliation":[{"name":"Cardiovascular Division, Department of Medicine, Washington University in St 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