Tricuspid mass-curious case of Li-Fraumeni syndrome: A case report

doi:10.12998/wjcc.v12.i11.1936

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Apr 16, 2024 (publication date) through Mar 4, 2026

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World Journal of Clinical Cases

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Case Report

World J Clin Cases. Apr 16, 2024; 12(11): 1936-1939
Published online Apr 16, 2024. doi: 10.12998/wjcc.v12.i11.1936

Tricuspid mass-curious case of Li-Fraumeni syndrome: A case report

Tyler Huffaker, Stella Pak, Anum Asif, Prince Otchere

Tyler Huffaker, Anum Asif, Prince Otchere, Department of Cardiology, University of Texas Health San Antonio, San Antonio, TX 78701, United States

Stella Pak, Department of Neurology, Albany Medical Center, Albany, NY 12208, United States

Author contributions: Huffaker T and Pak S contributed to the manuscript writing and revision; Asif A contributed to the revision and image editing; Otchere P contributed to the supervision revision.

Informed consent statement: Written informed consent was obtained for the peripherally inserted central catheter placement.

Conflict-of-interest statement: The authors declare no conflicts of interest.

CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).

Corresponding author: Stella Pak, MD, Academic Research, Doctor, Department of Neurology, Albany Medical Center, 47 New Scotland Avenue, Albany, NY 12208, United States. stellacpak@outlook.com

Received: September 26, 2023
Peer-review started: September 26, 2023
First decision: December 5, 2023
Revised: December 30, 2023
Accepted: February 18, 2024
Article in press: February 18, 2024
Published online: April 16, 2024
Processing time: 198 Days and 4.9 Hours

Abstract

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: Li-Fraumeni syndrome; Cardiac mass; Intracardiac thrombus; Transesophageal echocardiogram; Cardiac magnetic resonance imaging; Case report

Core Tip: Li-Fraumeni syndrome is a rare autosomal dominant cancer-predisposing syndrome, which can manifest as a polymorphic spectrum of malignancies.