The Efficacy of a Genetic Analysis of the BMPR2 Gene in a Patient with Severe Pulmonary Arterial Hypertension and an Atrial Septal Defect Treated with Bilateral Lung Transplantation

Intern Med. 2017 Dec 1;56(23):3193-3197. doi: 10.2169/internalmedicine.8686-16. Epub 2017 Oct 11.

Abstract

Severe pulmonary arterial hypertension (PAH) rarely develops in children with an atrial septal defect (ASD), even those with a large defect. We herein report the case of a 27-year-old man with a moderate-sized secundum ASD and right ventricular failure due to severe PAH, which developed in his early teens. He was diagnosed as having a genetic mutation of the bone morphogenetic protein receptor-2 (BMPR2) gene and was successfully treated with bilateral lung transplantation with ASD path closure. In patients with congenital heart disease, a genetic analysis may provide information about the lifetime risk of developing PAH.

Keywords: BMPR2 mutation; Eisenmenger syndrome; atrial septal defect; congenital heart disease; lung transplantation; pulmonary arterial hypertension.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Bone Morphogenetic Protein Receptors, Type II / genetics*
  • Familial Primary Pulmonary Hypertension / genetics
  • Familial Primary Pulmonary Hypertension / physiopathology
  • Genetic Testing
  • Heart Defects, Congenital / genetics*
  • Heart Defects, Congenital / surgery*
  • Heart Septal Defects, Atrial / complications*
  • Heart Septal Defects, Atrial / surgery
  • Humans
  • Hypertension, Pulmonary / etiology*
  • Hypertension, Pulmonary / genetics*
  • Hypertension, Pulmonary / physiopathology
  • Lung Transplantation
  • Male
  • Severity of Illness Index
  • Treatment Outcome

Substances

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