EPAS1 and congenital heart disease: EPAS1 mutations have been identified in several pathological conditions in humans, including congenital heart disease [26], erythrocytosis [27], Lynch syndrome [28], polycythaemia [29] and in various tumours, e.g., in paraganglioma [30,31], phaeochromocytoma [12], pancreatic adenocarcinoma [32].