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CASE REPORT article

Front. Cardiovasc. Med.
Sec. Cardiovascular Genetics and Systems Medicine
Volume 11 - 2024 | doi: 10.3389/fcvm.2024.1507318
This article is part of the Research Topic Case Reports in Cardiovascular Genetics and Systems Medicine: 2024 View all 9 articles

A case of Tatton-Brown-Rahman Syndrome featuring mitral annular disjunction and mitral valve prolapse due to a novel mutation site in the DNMT3A gene.

Provisionally accepted
Li Lin Li Lin *Xu Zhongjiao Xu Zhongjiao Ruming Shen Ruming Shen Hu wuming Hu wuming lv lingchun lv lingchun shi zhenhua shi zhenhua
  • Lishui Central Hospital, Lishui, China

The final, formatted version of the article will be published soon.

    A 13-year-old child presented with specific facial features, overgrowth, and intellectual disability. Echocardiography revealed the presence of a large pericardial effusion, left ventricular enlargement, mitral annular separation, and mitral valve prolapse with moderate regurgitation. These symptoms suggest a possible genetic disorder. High-throughput sequencing revealed a specific mutation in the DNMT3A gene (NM_175629.2:c.2408+1G>A) associated with Tatton-Brown-Rahman syndrome. The patient's condition was alleviated through accurate diagnosis and comprehensive treatment measures, including psychological and social support. Regular follow-ups to monitor the disease's progress and the effectiveness of treatment, along with timely adjustments to the treatment plan, can not only effectively reduce the child's symptoms and improve their quality of life but may also help prevent the potential risk of sudden death.

    Keywords: TBRS, Tatton-Brown-Rahman syndrome, Dnmt3a, Mitral Valve Prolapse, Mitral annular disjunction

    Received: 07 Oct 2024; Accepted: 30 Dec 2024.

    Copyright: © 2024 Lin, Zhongjiao, Shen, wuming, lingchun and zhenhua. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Li Lin, Lishui Central Hospital, Lishui, China

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