BMPR2 germline mutation in chronic thromboembolic pulmonary hypertension

Lung. 2014 Aug;192(4):625-7. doi: 10.1007/s00408-014-9580-y. Epub 2014 Apr 13.

Abstract

Introduction: Heterozygous germline mutations of the bone morphogenetic protein type II receptor (BMPR2) gene BMPR2 are the most important predisposing factors for heritable pulmonary arterial hypertension. BMPR2 mutation was occasionally reported in pulmonary veno-occlusive disease, appetite suppressant-related pulmonary arterial hypertension (PAH), and PAH with congenital heart disease.

Materials and methods: In this study we identified a missense mutation (c.2296A > G) located in BMPR2 exon 12 in a patient with chronic thromboembolic pulmonary hypertension (CTEPH).

Conclusion: It is the first report of a BMPR2 mutation in CTEPH. Our study provides innovative insight into etiology of CTEPH. The genetic predisposing factor is an important component in the process of this CTEPH patient.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anticoagulants / therapeutic use
  • Antihypertensive Agents / therapeutic use
  • Bone Morphogenetic Protein Receptors, Type II / genetics*
  • Chronic Disease
  • DNA Mutational Analysis
  • Fatal Outcome
  • Female
  • Genetic Predisposition to Disease
  • Germ-Line Mutation*
  • Humans
  • Hypertension, Pulmonary / diagnosis
  • Hypertension, Pulmonary / genetics*
  • Hypertension, Pulmonary / physiopathology
  • Hypertension, Pulmonary / therapy
  • Mutation, Missense*
  • Phenotype
  • Pulmonary Embolism / diagnosis
  • Pulmonary Embolism / genetics*
  • Pulmonary Embolism / physiopathology
  • Pulmonary Embolism / therapy
  • Time Factors
  • Treatment Outcome

Substances

  • Anticoagulants
  • Antihypertensive Agents
  • BMPR2 protein, human
  • Bone Morphogenetic Protein Receptors, Type II