Narrative review: the enigma of pulmonary arterial hypertension: new insights from genetic studies

Ann Intern Med. 2008 Feb 19;148(4):278-83. doi: 10.7326/0003-4819-148-4-200802190-00006.

Abstract

Pulmonary arterial hypertension (PAH) occurs as an idiopathic disease (formerly called primary pulmonary hypertension) and as a consequence of other illnesses. These illnesses include connective tissue diseases, portal hypertension, diet and stimulant drug use, HIV infection, and congenital heart disease. Inherited susceptibility to PAH occurs in families and is almost always due to mutations in genes of the TGF-beta family of receptors. The most common mutation leading to PAH is in bone morphogenetic protein receptor type 2 (BMPR2), originally discovered to be involved in bone healing. Mutations in BMPR2 have also been found in patients with idiopathic PAH, although the true prevalence of this susceptibility has not been determined. About 20% of individuals with a BMPR2 mutation develop symptomatic pulmonary hypertension. Evidence is growing that imbalanced activation of other TGF-beta receptors coupled with reduced activity of mutated BMPR2 increases the likelihood of development of PAH. Many signaling systems have been found to participate in PAH, including K channels, serotonin, angiopoietin, and cyclooxygenases. An interaction of these signaling systems with BMPR2 is a focus of research in PAH. Approaches to altering the imbalance of activation of BMPR2 and other TGF-beta receptors may yield future therapies for PAH.

Publication types

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

MeSH terms

  • Activin Receptors, Type II / drug effects
  • Activin Receptors, Type II / genetics
  • Bone Morphogenetic Protein Receptors, Type II / drug effects
  • Bone Morphogenetic Protein Receptors, Type II / genetics
  • Humans
  • Hypertension, Pulmonary / drug therapy
  • Hypertension, Pulmonary / genetics*
  • Mutation

Substances

  • ACVRL1 protein, human
  • Activin Receptors, Type II
  • Bone Morphogenetic Protein Receptors, Type II