Abstract 14125: Tricuspid Mass- Solving a Curious Case of Li-Fraumeni Syndrome

Abstract

Background: Primary cardiac tumors are extremely rare (0.001-0.03%), but can have significant embolic, obstructive, and arrhythmic consequences. Li-Fraumeni syndrome (LFS) is an autosomal dominant genetic syndrome characterized by multiple malignancies, including osteosarcomas, CNS tumors, and adrenocortical, breast, and soft tissue sarcomas. We report diagnostic challenges of a patient with Li-Fraumeni syndrome found to have tricuspid valve mass and atrial septal defects. Case: 30-year-old female with Li-Fraumeni syndrome (ovarian cancer at 6 years,osteosarcoma and soft tissue sarcoma at 16 years, bilateral breast cancer at 26 years) found to have a tricuspid valve leaflet mass, as well as two atrial septal defects on surveillance echocardiography. There was concern for a primary cardiac tumor such as sarcoma or rhabdomyoma. She underwent surgical resection with biopsy showing organized mural thrombus. Decision making: Li-Fraumeni syndrome is a rare autosomal dominant cancer-predisposing syndrome, which can present with various tumor types. Cardiac tumors are extremely rare and have been limited to case reports. Although multimodality imaging is now more readily available, some cases remain diagnostic challenges if imaging is non-conclusive, histopathological studies remain the gold standard. In our case, the mass demonstrated mild enhancement in the post-gadolinium images suggestive for primary cardiac tumor versus a secondary metastatic cancer (Figure). A histopathological analysis by surgical resection demonstrated an organized thrombus. Conclusion: Diagnosis of cardiac masses in the setting of hereditary cancer syndromes such as LFS are rare and remain a challenge given the increased likelihood of primary or metastatic lesions. When imaging is inconclusive, further invasive investigations are warranted since it can alter the clinical management.