Case Report: Rare cardiovascular characteristics of tuberous sclerosis complex with novel TSC2 variant
BackgroundTuberous sclerosis complex (TSC) is a multisystem genetic disorder primarily characterized by the development of benign tumors in multiple organs. While cardiovascular involvement is less common than neurological or renal manifestations, it typically presents with cardiac rhabdomyomas (CRs...
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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.2024.1464933/full |
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| author | Zhiqin Du Xiao Ma Xiao Ma Xiao Ma Jianhua Li Fang Yang Yangfan Guo Yangfan Guo |
| author_facet | Zhiqin Du Xiao Ma Xiao Ma Xiao Ma Jianhua Li Fang Yang Yangfan Guo Yangfan Guo |
| author_sort | Zhiqin Du |
| collection | DOAJ |
| description | BackgroundTuberous sclerosis complex (TSC) is a multisystem genetic disorder primarily characterized by the development of benign tumors in multiple organs. While cardiovascular involvement is less common than neurological or renal manifestations, it typically presents with cardiac rhabdomyomas (CRs). The co-occurrence of a bicuspid aortic valve (BAV) with TSC is exceedingly rare.Case summaryWe report the case of a 26-year-old woman with genetically confirmed TSC, harboring a novel pathogenic variant in the TSC2 gene. Cardiovascular characteristics included a history of heart valve disease, a bicuspid aortic valve, and severe aortic regurgitation. multi-system characteristics of TSC were also presented, affecting skin, brain, lung, kidney, and bone. She underwent aortic valve replacement but experienced postoperative complications, including significant pleural and pericardial effusions requiring drainage and subsequent thoracic duct ligation.ConclusionThis case expands the clinical spectrum of TSC-associated cardiovascular abnormalities, highlighting the rare association of BAV with this disorder. Our finding emphasizes the importance of considering TSC in individuals presenting with these cardiac features, as well reinforce the critical role of molecular genetic testing in confirming the diagnosis of TSC. |
| format | Article |
| id | doaj-art-2672a575e5c048fca960ccaa23da96a1 |
| 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-2672a575e5c048fca960ccaa23da96a12025-01-20T07:20:26ZengFrontiers Media S.A.Frontiers in Cardiovascular Medicine2297-055X2025-01-011110.3389/fcvm.2024.14649331464933Case Report: Rare cardiovascular characteristics of tuberous sclerosis complex with novel TSC2 variantZhiqin Du0Xiao Ma1Xiao Ma2Xiao Ma3Jianhua Li4Fang Yang5Yangfan Guo6Yangfan Guo7Department of Radiology, Yan'an Hospital Affiliated to Kunming Medical University, Kunming, ChinaDepartment of Cardiac Surgery, Yan'an Hospital Affiliated to Kunming Medical University, Kunming, ChinaKey Laboratory of Cardiovascular Disease of Yunnan Province, Yan'an Hospital Affiliated to Kunming Medical University, Kunming, ChinaYunnan Provincial Clinical Research Center for Cardiovascular Disease, Yan'an Hospital Affiliated to Kunming Medical University, Kunming, ChinaDepartment of Echocardiography and Ultrasound, Yan'an Hospital Affiliated to Kunming Medical University, Kunming, ChinaDepartment of Pathology, Yan'an Hospital Affiliated to Kunming Medical University, Kunming, ChinaCentral Laboratory, Yan'an Hospital Affiliated to Kunming Medical University, Kunming, ChinaKey Laboratory of Tumor Immunological Prevention and Treatment, Yan'an Hospital Affiliated to Kunming Medical University, Kunming, ChinaBackgroundTuberous sclerosis complex (TSC) is a multisystem genetic disorder primarily characterized by the development of benign tumors in multiple organs. While cardiovascular involvement is less common than neurological or renal manifestations, it typically presents with cardiac rhabdomyomas (CRs). The co-occurrence of a bicuspid aortic valve (BAV) with TSC is exceedingly rare.Case summaryWe report the case of a 26-year-old woman with genetically confirmed TSC, harboring a novel pathogenic variant in the TSC2 gene. Cardiovascular characteristics included a history of heart valve disease, a bicuspid aortic valve, and severe aortic regurgitation. multi-system characteristics of TSC were also presented, affecting skin, brain, lung, kidney, and bone. She underwent aortic valve replacement but experienced postoperative complications, including significant pleural and pericardial effusions requiring drainage and subsequent thoracic duct ligation.ConclusionThis case expands the clinical spectrum of TSC-associated cardiovascular abnormalities, highlighting the rare association of BAV with this disorder. Our finding emphasizes the importance of considering TSC in individuals presenting with these cardiac features, as well reinforce the critical role of molecular genetic testing in confirming the diagnosis of TSC.https://www.frontiersin.org/articles/10.3389/fcvm.2024.1464933/fulltuberous sclerosis complexaortic regurgitationbicuspid aortic valveimaging diagnosisgenetic diagnosis |
| spellingShingle | Zhiqin Du Xiao Ma Xiao Ma Xiao Ma Jianhua Li Fang Yang Yangfan Guo Yangfan Guo Case Report: Rare cardiovascular characteristics of tuberous sclerosis complex with novel TSC2 variant Frontiers in Cardiovascular Medicine tuberous sclerosis complex aortic regurgitation bicuspid aortic valve imaging diagnosis genetic diagnosis |
| title | Case Report: Rare cardiovascular characteristics of tuberous sclerosis complex with novel TSC2 variant |
| title_full | Case Report: Rare cardiovascular characteristics of tuberous sclerosis complex with novel TSC2 variant |
| title_fullStr | Case Report: Rare cardiovascular characteristics of tuberous sclerosis complex with novel TSC2 variant |
| title_full_unstemmed | Case Report: Rare cardiovascular characteristics of tuberous sclerosis complex with novel TSC2 variant |
| title_short | Case Report: Rare cardiovascular characteristics of tuberous sclerosis complex with novel TSC2 variant |
| title_sort | case report rare cardiovascular characteristics of tuberous sclerosis complex with novel tsc2 variant |
| topic | tuberous sclerosis complex aortic regurgitation bicuspid aortic valve imaging diagnosis genetic diagnosis |
| url | https://www.frontiersin.org/articles/10.3389/fcvm.2024.1464933/full |
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