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

Abstract

Objective: Li-Fraumeni Syndrome (LFS) is a rare autosomal-dominant syndrome caused by a heterozygous 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.

Keywords

• li-fraumeni syndrome
• non-bacterial thrombotic endocarditis
• ischemic stroke
• tp53 mutation
• embolization