{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T21:22:31Z","timestamp":1771536151797,"version":"3.50.1"},"reference-count":56,"publisher":"BMJ","issue":"9","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2024,6,17]]},"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Tatton-Brown-Rahman syndrome (TBRS) is a rare disorder, caused by <jats:italic>DNMT3A<\/jats:italic> heterozygous pathogenic variants, and first described in 2014. TBRS is characterised by overgrowth, intellectual disability, facial dysmorphism, hypotonia and musculoskeletal features, as well as neurological and psychiatric features. Cardiac manifestations have also been reported, mainly congenital malformations such as atrial septal defect, ventricular septal defect and cardiac valvular disease. Aortic dilatation has rarely been described.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Here we have undertaken a detailed clinical and molecular description of eight previously unreported individuals, who had TBRS and arterial dilatation and\/or dissection, mainly thoracic aortic aneurysm (TAA). We have also reviewed the seven previously published cases of TAA in individuals with TBRS to try to better delineate the vascular phenotype and to determine specific follow-up for this condition.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>We include eight new patients with TBRS who presented with arterial aneurysms mainly involving aorta. Three of these patients presented with dissection that required critical surgery.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Arterial aneurysms and dissections are a potentially lethal, age-dependent manifestation. The prevalence of aortic disease in individuals with TBRS is far in excess of that expected in the general population. This cohort, together with individuals previously published, illustrates the importance to consider dilatation\/dissection, mainly in aorta but also in other arteries. Arterial vascular weakness may therefore also be a cardinal feature of TBRS and vascular surveillance is recommended.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg-2024-109861","type":"journal-article","created":{"date-parts":[[2024,7,3]],"date-time":"2024-07-03T00:45:39Z","timestamp":1719967539000},"page":"870-877","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome"],"prefix":"10.1136","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5504-222X","authenticated-orcid":false,"given":"Vicken","family":"Totten","sequence":"first","affiliation":[{"name":"Kaweah Health System, Visalia, California, USA"},{"name":"Kayenta Health Center of the Indian Health Service, Kayenta, Arizona, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4714-2420","authenticated-orcid":false,"given":"Gisela","family":"Teixido-Tura","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Hospital Universitari Vall d'Hebron, CIBER-CV, Vall d'Hebron institut de Recerca, Universitat Aut\u00f2noma de Barcelona, Barcelona, Spain"},{"name":"Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fermina","family":"Lopez-Grondona","sequence":"additional","affiliation":[{"name":"European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), HTAD Rare Disease Working Group, Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2695-3531","authenticated-orcid":false,"given":"Paula","family":"Fernandez-Alvarez","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital. Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain"},{"name":"European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA), Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9136-5106","authenticated-orcid":false,"given":"Amaia","family":"Lasa-Aranzasti","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital. Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain"},{"name":"European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA), Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"Mu\u00f1oz-Cabello","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital. Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain"},{"name":"European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA), Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rika","family":"Kosaki","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7116-6310","authenticated-orcid":false,"given":"Eduardo F","family":"Tizzano","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital. Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain"},{"name":"European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA), Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy","family":"Dewals","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology Department, Antwerp University Hospital, Edegem, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8237-6380","authenticated-orcid":false,"given":"Emma","family":"Borr\u00e0s","sequence":"additional","affiliation":[{"name":"Molecular Genetics Unit, Consorci Sanitari de Terrassa, Terrassa, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena Gonzalez","family":"Ca\u00f1as","sequence":"additional","affiliation":[{"name":"Angiology and Vascular Surgery, Hospital Universitari Parc Tauli, Sabadell, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5599-2954","authenticated-orcid":false,"given":"Berta","family":"Almoguera","sequence":"additional","affiliation":[{"name":"European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), HTAD Rare Disease Working Group, Barcelona, Spain"},{"name":"Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3703-9518","authenticated-orcid":false,"given":"Bart","family":"Loeys","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Antwerp University Hospital\/University of Antwerp, Antwerp, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2350-6058","authenticated-orcid":false,"given":"Irene","family":"Valenzuena","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital. 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Tatton-Brown-Rahman syndrome. In: Adam MP , Mirzaa GM , Pagon RA , et al , eds. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle, 2022: 1993\u20132023."},{"key":"2025101723110598000_61.9.870.38","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1002\/ajmg.c.31738","article-title":"The phenotype of Sotos syndrome in adulthood: a review of 44 individuals","volume":"181","author":"Foster","year":"2019","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"2025101723110598000_61.9.870.39","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1002\/ajmg.a.37402","article-title":"Severe connective tissue Laxity including aortic dilatation in Sotos syndrome","volume":"170","author":"Hood","year":"2016","journal-title":"Am J Med Genet Pt A"},{"key":"2025101723110598000_61.9.870.40","doi-asserted-by":"crossref","first-page":"1819","DOI":"10.1002\/ajmg.a.61591","article-title":"Aortic dilation in Sotos syndrome: an underestimated feature?","volume":"182","author":"Pezzani","year":"2020","journal-title":"Am J Med Genet Pt 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