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

Shunsuke Tatebe, Koichiro Sugimura, Tatsuo Aoki, Saori Yamamoto, Nobuhiro Yaoita, Hideaki Suzuki, Haruka Sato, Katsuya Kozu, Ryo Konno, Kimio Satoh, Koji Fukuda, Osamu Adachi, Ryoko Saito, Norifumi Nakanishi, Hiroko Morisaki, Kotaro Oyama, Yoshikatsu Saiki, Yoshinori Okada, Hiroaki Shimokawa

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)

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.

Original languageEnglish
Pages (from-to)3193-3197
Number of pages5
JournalInternal Medicine
Volume56
Issue number23
DOIs
Publication statusPublished - 2017

Keywords

  • Atrial septal defect
  • BMPR2 mutation
  • Congenital heart disease
  • Eisenmenger syndrome
  • Lung transplantation
  • Pulmonary arterial hypertension

ASJC Scopus subject areas

  • Internal Medicine

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