Why the study?
Cardiovascular involvement in tuberous sclerosis complex typically presents with cardiac rhabdomyomas, whereas the co-occurrence of a bicuspid aortic valve is exceedingly rare.
This case expands the clinical spectrum of Tuberous Sclerosis Complex by highlighting its rare association with a bicuspid aortic valve and severe aortic regurgitation.
Novel BAV-TSC association is hypothesis-generating; does not justify practice changes and merits systematic investigation.
Background: Tuberous 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 summary: 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. Conclusion: This 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.
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Du et al. (2025) studied this question.
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