The discovery analysis, containing 251 IPAH patients, identified rare heterozygous mutations in BMPR2 (49 cases), ACVRL1 (15 cases), TBX4 (10 cases), SMAD1 (two cases), BMPR1B (one case), KCNK3 (one case) and SMAD9 (one case). This evidence concerns the gene BMPR2 and idiopathic pulmonary arterial hypertension.