Genetics of primary pulmonary hypertension

Clin Chest Med. 2001 Sep;22(3):477-91, ix. doi: 10.1016/s0272-5231(05)70285-9.


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. Mutations in the gene which encodes bone morphogenetic receptor 2 have recently been discovered in familial and sporadic PPH. This review discusses the basic clinical and genetic features of FPPH, and describes the research that led to the discovery of the disease-causing gene. Potential mechanisms of disease are also discussed, as well as implications for future investigations.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Bone Morphogenetic Protein Receptors, Type II
  • Female
  • Genetic Linkage
  • Germ-Line Mutation
  • Hemodynamics
  • Humans
  • Hypertension, Pulmonary / epidemiology
  • Hypertension, Pulmonary / genetics*
  • Hypertension, Pulmonary / pathology
  • Incidence
  • Male
  • Pedigree
  • Protein Serine-Threonine Kinases / genetics
  • Receptors, Cell Surface / genetics
  • Sex Factors


  • Receptors, Cell Surface
  • Protein Serine-Threonine Kinases
  • BMPR2 protein, human
  • Bone Morphogenetic Protein Receptors, Type II