ArticleAmerican journal of medical genetics. Part A2022
Aortic root dilatation and dilated cardiomyopathy in an adult with Tatton-Brown-Rahman syndrome.
Article in American journal of medical genetics. Part A, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 10 citations in OpenAlex.
- Developing a Replicable Cardiogenetic Care Model: Insights from the Saguenay-Lac-Saint-Jean Founder Population.Journal of community genetics · 2026Article
- Natural history in Malan syndrome: survey of 28 adults and literature review.Orphanet journal of rare diseases · 2024Review
- Aortic disease and cardiomyopathy in patients with a novel DNMT3A gene variant causing Tatton-Brown-Rahman syndrome.Clinical epigenetics · 2024Article
- Case Report: A case of Tatton-Brown-Rahman syndrome featuring mitral annular disjunction and mitral valve prolapse due to a novel mutation site in theFrontiers in cardiovascular medicine · 2024Article
- Methylation signatures in clinically variable syndromic disorders: a familial DNMT3A variant in two adults with Tatton-Brown-Rahman syndrome.European journal of human genetics : EJHG · 2023Article
- Melanoma in a patient with DNMT3A overgrowth syndrome.Cold Spring Harbor molecular case studies · 2023Article
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Authors and funding
6 authors at 1 institution in 1 country.
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Abstract
Tatton-Brown-Rahman syndrome is an autosomal dominant overgrowth syndrome caused by pathogenic DNMT3A 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-Brown-Rahman 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 DNMT3A variants, signaling a need to better characterize the phenotypes in adults. In this report, we describe a 34 year 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 DNMT3A 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.
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