Ischemic stroke from non-bacterial thrombotic endocarditis embolization in Li-Fraumeni syndrome: A case report

Objective: Li-Fraumeni Syndrome (LFS) is a rare autosomal-dominant syndrome caused by aheterozygous germline mutation of the TP53 gene.It is characterized by early-onset malignancies and high penetrance.Non-bacterial thrombotic endocarditis (NBTE) is an uncommon condition for which cancer is a significant risk factor.Here we present a complex case of LFS unveiled by a NBTE-related ischemic stroke.Case presentation: A 41-year-old woman was admitted following a syncopal episode, preceded by a history of ischemic stroke.She had a notable family history of cancers.Imaging studies revealed ischemic damage and hemorrhagic infarcts, indicating a possible embolic origin or neoplastic involvement.Subsequent examinations revealed a NBTE on the aortic valve as well as multiple primary malignancies including high-grade invasive ductal carcinoma in the breast and primary lung adenocarcinoma.Genetic testing confirmed the presence of a pathogenic variant in TP53.Conclusion: This case underscores the intricate interplay between LFS, oncological manifestations, and thrombotic complications leading to ischemic stroke through NBTE embolization.