Background: Li-Fraumeni syndrome (LFS) is a rare autosomal dominant cancer-predisposing syndrome, which can manifest as a polymorphic spectrum of malignancies. LFS is associated with an early onset in life, with the majority of cases occurring prior to the age of 46. Notwithstanding the infrequency of primary cardiac tumors, it behooves clinicians to remain vigilant in considering the differential diagnosis of such tumors in LFS patients who present with a cardiac mass. This is due to the markedly elevated risk for malignancy in this particular population, far surpassing that of the general populace.
Case summary: Herein, we present a case of a 30-year-old female with LFS who was found to have a tricuspid valve leaflet mass.
Conclusion: This case exemplifies valuable learning points in the diagnostic approach for this exceptionally rare patient population.
Keywords: Cardiac magnetic resonance imaging; Cardiac mass; Case report; Intracardiac thrombus; Li-Fraumeni syndrome; Transesophageal echocardiogram.
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