A Variant of Unknown Significance in a Patient With a Cardiac Functional Paraganglioma.

Cardiac paragangliomas are extremely rare tumors derived from chromaffin cells of the neural crest. Succinate dehydrogenase B () mutations are associated with metastatic potential and potentially worse prognosis. Here we describe the case of a 64-year-old man who presented with chest pain, fatigue, and weight loss. Cardiac workup revealed a nearly 7-cm cardiac mass in the right lateral wall. Incisional biopsy demonstrated paraganglioma. Plasma free normetanephrine and chromogranin A were elevated. A DOTATATE positron emission tomography/computed tomography (PET/CT) revealed avidity of the mass with no evidence of distant metastases. Next-generation sequencing of the specimen demonstrated a variant of unknown significance of at H244D. Germline testing was negative. Surgical resection was aborted due to involvement of critical structures of the heart. Systemic treatment with the multi-tyrosine kinase inhibitor cabozantinib was initiated with subsequent improvements in biochemical markers as well as reductions in maximum standardized uptake value (SUVmax) on Ga-68 DOTATATE PET/CT. After 5 months of cabozantinib, he was unable to tolerate the side effects and external beam radiation therapy was completed. In this case, we report a novel somatic mutation at H244D in a sympathetic paraganglioma presenting as a cardiac mass.