Genetics of primary pulmonary hypertension

Familial primary pulmonary hypertension (FPPH) is a well described clinical entity in which the disease occurs in at least two first degree relatives. It is clinically and pathologically indistinguishable from sporadic PPH. M utations in the gene which encodes bone morphogenetic receptor 2 have recen tly been discovered in familial and sporadic PPH. This review discusses the basic clinical and genetic features of FPPH, and describes the research th at led to the discovery of the disease-causing gene. Potential mechanisms o f disease are also discussed, as well as implications for future investigat ions.