ArticleFrontiers in cardiovascular medicine2024
Case Report: Rare cardiovascular characteristics of tuberous sclerosis complex with novel TSC2 variant.
Article in Frontiers in cardiovascular medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
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: We report the case of a 26-year-old woman with genetically confirmed TSC, harboring a novel pathogenic variant in the 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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