Gene mutations that have been described as promoters of PAH include mutations in the gene coding BMPR2 (bone morphogenetic protein receptor type II), a member of the transforming growth factor beta (TGF-β) signaling pathway, which has been identified in approximately 70 % of familial and up to 25 % of sporadic cases [2]. This evidence concerns the gene TGFB1 and pulmonary arterial hypertension.