Insights into the genetic and molecular basis of primary pulmonary hypertension

Pediatr Res. 2003 Jun;53(6):883-8. doi: 10.1203/01.PDR.0000061565.22500.E7. Epub 2003 Mar 5.


The pathogenesis of primary pulmonary hypertension (PPH) remains poorly understood. Molecular genetic studies have identified that mutations within the gene BMPR2 on the long arm of chromosome 2 underlie familial PPH. This review explores the significance of the PPH gene identification and examines additional genetic determinants, emphasizing the immediate implications for assessment and management of patients and their relatives.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone Morphogenetic Protein Receptors, Type II
  • Genetic Testing
  • Humans
  • Hypertension, Pulmonary / diagnosis
  • Hypertension, Pulmonary / genetics*
  • Mutation
  • Protein-Serine-Threonine Kinases / genetics
  • Telangiectasis / genetics
  • Transforming Growth Factor beta / genetics


  • Transforming Growth Factor beta
  • Protein-Serine-Threonine Kinases
  • BMPR2 protein, human
  • Bone Morphogenetic Protein Receptors, Type II