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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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Cardiovascular Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fcvm.2024.1507318/full |
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| author | Zhong-jiao Xu Ru-ming Shen Wu-ming Hu Lin-chun Lv Zhen-hua Shi Li Lin |
| author_facet | Zhong-jiao Xu Ru-ming Shen Wu-ming Hu Lin-chun Lv Zhen-hua Shi Li Lin |
| author_sort | Zhong-jiao Xu |
| collection | DOAJ |
| description | 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 suggested 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. |
| format | Article |
| id | doaj-art-dea022cdccfe42c69928cd983d651c80 |
| institution | Kabale University |
| issn | 2297-055X |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cardiovascular Medicine |
| spelling | doaj-art-dea022cdccfe42c69928cd983d651c802025-01-20T07:20:16ZengFrontiers Media S.A.Frontiers in Cardiovascular Medicine2297-055X2025-01-011110.3389/fcvm.2024.15073181507318Case 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 geneZhong-jiao XuRu-ming ShenWu-ming HuLin-chun LvZhen-hua ShiLi LinA 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 suggested 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.https://www.frontiersin.org/articles/10.3389/fcvm.2024.1507318/fullTBRSTatton-Brown–Rahman syndromeDNMT3Amitral valve prolapsemitral annular disjunction |
| spellingShingle | Zhong-jiao Xu Ru-ming Shen Wu-ming Hu Lin-chun Lv Zhen-hua Shi Li Lin 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 Frontiers in Cardiovascular Medicine TBRS Tatton-Brown–Rahman syndrome DNMT3A mitral valve prolapse mitral annular disjunction |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| topic | TBRS Tatton-Brown–Rahman syndrome DNMT3A mitral valve prolapse mitral annular disjunction |
| url | https://www.frontiersin.org/articles/10.3389/fcvm.2024.1507318/full |
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