Year: 2025
Type: article
Study design: Case Report
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 (68Ga)-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.
Source: JCEM Case Reports
Institutions: University Hospital Mútua de Terrassa, Mútua Terrassa
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $930
OpenAlex ID: W4409572455