Endocrine Abstracts

Background: Improved management for patients with cyanotic congenital heart disease (CCHD) has led to prolonged lifespan and an increase in patients with CCHD presenting with pheochromocytoma and paraganglioma (PPGL) has been noted. PPGL susceptibility genes including VHL, SDH(x), FH, EPAS1 have been connected to a common signaling pathway that activates hypoxia-inducible factors. 4 of 5 patients with CCHD and PPGL were previously noted to have a somatic gain-of-function mutat...