تقرير
Aortic root dilatation and dilated cardiomyopathy in an adult with Tatton-Brown-Rahman syndrome.
العنوان: | Aortic root dilatation and dilated cardiomyopathy in an adult with Tatton-Brown-Rahman syndrome. |
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المؤلفون: | Cecchi AC; Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Texas, USA., Haidar A; Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Texas, USA., Marin I; Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Texas, USA., Kwartler CS; Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Texas, USA., Prakash SK; Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Texas, USA., Milewicz DM; Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Texas, USA. |
المصدر: | American journal of medical genetics. Part A [Am J Med Genet A] 2022 Feb; Vol. 188 (2), pp. 628-634. Date of Electronic Publication: 2021 Oct 13. |
نوع المنشور: | Case Reports; Research Support, N.I.H., Extramural |
اللغة: | English |
بيانات الدورية: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
أسماء مطبوعة: | Publication: Hoboken, N.J. : Wiley-Blackwell Original Publication: Hoboken, N.J. : Wiley-Liss, c2003- |
مواضيع طبية MeSH: | Aortic Diseases*/complications , Aortic Diseases*/diagnosis , Aortic Diseases*/genetics , Cardiomyopathy, Dilated*/complications , Cardiomyopathy, Dilated*/diagnosis , Cardiomyopathy, Dilated*/genetics , Intellectual Disability*/genetics , Marfan Syndrome*/complications , Marfan Syndrome*/diagnosis , Marfan Syndrome*/genetics, Adult ; DNA (Cytosine-5-)-Methyltransferases/genetics ; DNA Methyltransferase 3A ; Dilatation ; Humans ; Mutation |
مستخلص: | 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. (© 2021 Wiley Periodicals LLC.) |
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معلومات مُعتمدة: | R01 HL109942 United States HL NHLBI NIH HHS; R01 HL137028 United States HL NHLBI NIH HHS; R01HL109942 United States HL NHLBI NIH HHS |
فهرسة مساهمة: | Keywords: DNMT3A; Tatton-Brown-Rahman syndrome; aortic aneurysm; cardiomyopathy; overgrowth syndrome |
المشرفين على المادة: | EC 2.1.1.37 (DNA (Cytosine-5-)-Methyltransferases) EC 2.1.1.37 (DNA Methyltransferase 3A) |
تواريخ الأحداث: | Date Created: 20211013 Date Completed: 20220407 Latest Revision: 20230202 |
رمز التحديث: | 20240628 |
مُعرف محوري في PubMed: | PMC9175539 |
DOI: | 10.1002/ajmg.a.62541 |
PMID: | 34644003 |
قاعدة البيانات: | MEDLINE |
تدمد: | 1552-4833 |
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DOI: | 10.1002/ajmg.a.62541 |