Familial Paraganglioma Presenting With Acute Coronary Syndrome and Coronary Vasospasm

家族性副神经节瘤表现为急性冠状动脉综合征和冠状动脉痉挛

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Abstract

Familial paraganglioma syndrome (FPS) is a rare genetic disorder characterized by the development of paragangliomas (PGLs) and pheochromocytomas (PCCs). Here, we describe the case of a 42-year-old man with a family history of FPS, who presented with episodic chest pain and was diagnosed with acute coronary syndrome secondary to cardiac PGL-induced vasospasm. A thorough review of the family history confirmed several cases of PGLs and PCCs in the immediate family circle. A pathogenic variant in the succinate dehydrogenase (SDH) gene was revealed, elucidating the hereditary nature of the condition. Subsequent gallium ((68)Ga)-edotreotide positron emission tomography confirmed the presence of multiple lesions with increased uptake consistent with PGLs, including 2 primary cardiac PGLs that may have accounted for a coronary vasospasm due to the secretion of catecholamines.

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