EPAS1 Mutations and Paragangliomas in Cyanotic Congenital Heart Disease

Paraganglioma, HIF-2α, and Cyanotic Heart Disease Four of five patients with paragangliomas and pheochromocytomas who had received a diagnosis of congenital cyanotic heart disease had mutant HIF-2α. This contrasts with the prevalence of mutant HIF-2 in these tumor types in the absence of cyanotic heart disease (6 to 10%).