Carotid Body Paraganglioma With an SDHD Gene Mutation: The Need For Genetic Testing

Clinical picture: SDHD paraganglioma presenting with syncope

“…An SDHD gene mutation is associated with hereditary paraganglioma‐pheochromocytoma (PGL/PCC) syndromes which most commonly originate head and neck and form in the carotid body. They usually arise from the autonomic nervous system anywhere from the skull base to the pelvis with an incidence of 1:30 000‐1:100 000 1 . About 95% of head and neck paragangliomas are nonsecretory 2 .…”