Genetics of pulmonary arterial hypertension

Semin Respir Crit Care Med. 2009 Aug;30(4):386-98. doi: 10.1055/s-0029-1233308. Epub 2009 Jul 24.


Tremendous progress has been made in understanding the genetics of hereditable pulmonary arterial hypertension (HPAH) since its description in the 1950s. Germline mutations in the gene coding bone morphogenetic receptor type 2 ( BMPR2) are detectable in the majority of cases of HPAH, and in a small proportion of cases of idiopathic pulmonary arterial hypertension (IPAH). HPAH is an autosomal dominant disease characterized by reduced penetrance, variable expressivity, female predominance, and genetic anticipation. These characteristics suggest that endogenous and exogenous factors modify disease expression and areas of emphasis for future investigation. The variable clinical expression makes genetic counseling complex because the majority of carriers of a BMPR2 mutation will not be diagnosed with the disease. This issue will become increasingly important, as clinical testing for BMPR2 mutations is now available for the evaluation of patients and family members with HPAH and IPAH.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Bone Morphogenetic Protein Receptors, Type II / genetics*
  • Female
  • Genetic Counseling
  • Genetic Predisposition to Disease
  • Genetic Testing / methods
  • Germ-Line Mutation
  • Humans
  • Hypertension, Pulmonary / genetics*
  • Male
  • Sex Factors


  • BMPR2 protein, human
  • Bone Morphogenetic Protein Receptors, Type II