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. |
|---|---|
| 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.) |
| References: | Am J Med Genet A. 2020 Apr;182(4):673-680. (PMID: 31961069) Circulation. 2020 Oct 20;142(16):1562-1578. (PMID: 32885664) Nat Genet. 2014 Apr;46(4):385-8. (PMID: 24614070) Genet Med. 2015 May;17(5):405-24. (PMID: 25741868) Am J Cardiol. 2014 Sep 15;114(6):914-20. (PMID: 25092193) Nature. 2019 Sep;573(7773):281-286. (PMID: 31485078) Circulation. 2021 Jul 6;144(1):7-19. (PMID: 33947203) Nucleic Acids Res. 1997 Oct 1;25(19):3895-903. (PMID: 9380514) Am J Med Genet A. 2019 Jul;179(7):1357-1361. (PMID: 31066180) FASEB J. 2020 Oct;34(10):13224-13238. (PMID: 32794622) Hum Genome Var. 2020 May 18;7:15. (PMID: 32435502) Genome Biol. 2018 Jul 12;19(1):88. (PMID: 30001199) Nucleic Acids Res. 2019 Jan 8;47(D1):D941-D947. (PMID: 30371878) J Am Coll Cardiol. 2018 Aug 7;72(6):605-615. (PMID: 30071989) Am J Med Genet. 1996 Apr 24;62(4):417-26. (PMID: 8723076) J Clin Invest. 2020 May 1;130(5):2347-2363. (PMID: 31990678) Am J Med Genet A. 2020 Jul;182(7):1819-1823. (PMID: 32286744) Am J Med Genet A. 2013 May;161A(5):1105-9. (PMID: 23495138) Am J Cardiol. 2012 Oct 15;110(8):1189-94. (PMID: 22770936) Pituitary. 2020 Apr;23(2):167-170. (PMID: 31858400) Am J Med Genet A. 2017 Jul;173(7):1887-1890. (PMID: 28449304) Eur J Hum Genet. 2020 Apr;28(4):469-479. (PMID: 31685998) Clin Genet. 2017 Apr;91(4):623-628. (PMID: 27701732) Am J Med Genet A. 2016 Feb;170A(2):531-535. (PMID: 26613968) J Med Genet. 2017 Dec;54(12):805-808. (PMID: 28432085) Cell. 1999 Oct 29;99(3):247-57. (PMID: 10555141) Am J Hum Genet. 2013 Aug 8;93(2):249-63. (PMID: 23849776) Cell Signal. 2014 Dec;26(12):2903-11. (PMID: 25220407) J Med Genet. 2016 Nov;53(11):743-751. (PMID: 27317772) J Med Genet. 2010 Jul;47(7):476-85. (PMID: 20591885) Am J Med Genet A. 2017 Jan;173(1):250-253. (PMID: 27991732) Wellcome Open Res. 2018 Apr 23;3:46. (PMID: 29900417) Hum Mutat. 2017 May;38(5):517-523. (PMID: 28229513) Cardiol Res Pract. 2011;2011:824095. (PMID: 21747990) Nat Neurosci. 2017 Apr;20(4):602-611. (PMID: 28263302) Am J Med Genet A. 2011 May;155A(5):1115-8. (PMID: 21484993) Am J Med Genet A. 2017 Nov;173(11):3022-3028. (PMID: 28941052) J Appl Physiol (1985). 2005 Aug;99(2):445-57. (PMID: 15557009) Circulation. 2017 Oct 17;136(16):1528-1544. (PMID: 28838933) Hum Mutat. 2018 Sep;39(9):1226-1237. (PMID: 29897170) Hum Genome Var. 2017 Jun 01;4:17022. (PMID: 28584646) JCI Insight. 2017 Jun 15;2(12):. (PMID: 28614798) Am J Med Genet A. 2012 Feb;158A(2):429-33. (PMID: 22246919) |
| 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 |
|---|---|
| DOI: | 10.1002/ajmg.a.62541 |