Mutations in the germinal line of BMPR2 have been widely related to at least 50% of the familial cases and 40% of the idiopathic of pulmonary arterial hypertension (PAH; OMIM #178600, ORPHA 422) 1, 3, 4, 5, 6. The gene discussed is BMPR2; the disease is pulmonary arterial hypertension.