Case Report: 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

Case Report: 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

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...

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Bibliographic Details
Main Authors: Zhong-jiao Xu, Ru-ming Shen, Wu-ming Hu, Lin-chun Lv, Zhen-hua Shi, Li Lin
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Cardiovascular Medicine
Subjects:
TBRS
Tatton-Brown–Rahman syndrome
DNMT3A
mitral valve prolapse
mitral annular disjunction
Online Access:https://www.frontiersin.org/articles/10.3389/fcvm.2024.1507318/full
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