Case Report: Rare cardiovascular characteristics of tuberous sclerosis complex with novel TSC2 variant

• DOI: 10.3389/fcvm.2024.1464933
• Publication Date: 2025-01-20T07:22:29Z
• Authors: Zhiqin Du; Xiao Ma; Jianhua Li; Fang Yang; Yangfan Guo
• Keywords: TSC1; TSC2; Genetic disorder

Background Tuberous sclerosis complex (TSC) is a multisystem genetic disorder primarily characterized by the development of benign tumors in multiple organs. While cardiovascular involvement less common than neurological or renal manifestations, it typically presents with cardiac rhabdomyomas (CRs). The co-occurrence bicuspid aortic valve (BAV) TSC exceedingly rare. Case summary We report case 26-year-old woman genetically confirmed TSC, harboring novel pathogenic variant TSC2 gene. Cardiovascular characteristics included history heart disease, valve, and severe regurgitation. multi-system were also presented, affecting skin, brain, lung, kidney, bone. She underwent replacement but experienced postoperative complications, including significant pleural pericardial effusions requiring drainage subsequent thoracic duct ligation. Conclusion This expands clinical spectrum TSC-associated abnormalities, highlighting rare association BAV this disorder. Our finding emphasizes importance considering individuals presenting these features, as well reinforce critical role molecular testing confirming diagnosis TSC.