{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T23:14:35Z","timestamp":1789168475858,"version":"build-2803163510"},"reference-count":43,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,10,13]],"date-time":"2021-10-13T00:00:00Z","timestamp":1634083200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["R01HL109942"],"award-info":[{"award-number":["R01HL109942"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Tatton\u2010Brown\u2010Rahman syndrome is an autosomal dominant overgrowth syndrome caused by pathogenic <jats:italic>DNMT3A<\/jats:italic> variants in the germline. Clinical findings of tall stature due to postnatal overgrowth, intellectual disability, and characteristic facial features, are the most consistent findings observed in patients with Tatton\u2010Brown\u2010Rahman syndrome (TBRS). Since the syndrome was first described in 2014, an expanding spectrum of neuropsychiatric, musculoskeletal, neurological, and cardiovascular manifestations have been reported. However, most TBRS cases described in the literature are children with de novo <jats:italic>DNMT3A<\/jats:italic> variants, signaling a need to better characterize the phenotypes in adults. In this report, we describe a 34\u2009year old referred to genetics for possible Marfan syndrome with aortic root dilatation, mitral valve prolapse, and dilated cardiomyopathy, who was diagnosed with TBRS due to a heterozygous de novo <jats:italic>DNMT3A<\/jats:italic> variant. This represents the third reported TBRS case with aortic root dilation and the second with cardiomyopathy. Collectively, these data provide evidence for an association with aortic disease and cardiomyopathy, highlight the clinical overlap with Marfan syndrome, and suggest that cardiovascular surveillance into adulthood is indicated.<\/jats:p>","DOI":"10.1002\/ajmg.a.62541","type":"journal-article","created":{"date-parts":[[2021,10,17]],"date-time":"2021-10-17T01:01:17Z","timestamp":1634432477000},"page":"628-634","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Aortic root dilatation and dilated cardiomyopathy in an adult with <scp>Tatton\u2010Brown\u2010Rahman<\/scp> syndrome"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9588-8705","authenticated-orcid":false,"given":"Alana C.","family":"Cecchi","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School University of Texas Health Science Center at Houston  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