BMPR2 gene mutation in pulmonary arteriovenous malformation and pulmonary hypertension: a case report

Respir Investig. 2014 May;52(3):195-8. doi: 10.1016/j.resinv.2013.08.003. Epub 2013 Sep 10.

Abstract

The transforming growth factor-β superfamily signaling pathway is thought to be involved in the pathogenesis of pulmonary arteriovenous malformation (PAVM). However, the association between bone morphogenetic protein receptor type 2 (BMPR2) gene mutations and PAVM remains unclear. We present a case of concurrent PAVM and pulmonary arterial hypertension (PAH), with a deletion mutation in exon 6 and exon 7 of the BMPR2 gene. Drug treatment for PAH improved the patient's hemodynamics and exercise capacity, but worsened oxygenation. This case suggests that BMPR2 gene mutation may be associated with the complex presentation of PAVM combined with PAH.

Keywords: Ambrisentan; Bone morphogenetic protein receptor type 2; Pulmonary arterial hypertension; Pulmonary arteriovenous malformation; Sildenafil.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Arteriovenous Malformations / drug therapy
  • Arteriovenous Malformations / genetics*
  • Arteriovenous Malformations / physiopathology
  • Bone Morphogenetic Protein Receptors, Type II / genetics*
  • Bone Morphogenetic Protein Receptors, Type II / physiology*
  • Exercise
  • Exons / genetics
  • Female
  • Gene Deletion*
  • Hemodynamics
  • Humans
  • Hypertension, Pulmonary / genetics*
  • Mutation*
  • Oxygen Consumption
  • Pulmonary Artery / abnormalities*
  • Pulmonary Veins / abnormalities*

Substances

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