@article{7497550108b84adfb8122e0bbcd0cd27,
title = "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",
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 = "Atrial septal defect, BMPR2 mutation, Congenital heart disease, Eisenmenger syndrome, Lung transplantation, Pulmonary arterial hypertension",
author = "Shunsuke Tatebe and Koichiro Sugimura and Tatsuo Aoki and Saori Yamamoto and Nobuhiro Yaoita and Hideaki Suzuki and Haruka Sato and Katsuya Kozu and Ryo Konno and Kimio Satoh and Koji Fukuda and Osamu Adachi and Ryoko Saito and Norifumi Nakanishi and Hiroko Morisaki and Kotaro Oyama and Yoshikatsu Saiki and Yoshinori Okada and Hiroaki Shimokawa",
note = "Publisher Copyright: {\textcopyright} 2017 The Japanese Society of Internal Medicine.",
year = "2017",
doi = "10.2169/internalmedicine.8686-16",
language = "English",
volume = "56",
pages = "3193--3197",
journal = "Internal Medicine",
issn = "0918-2918",
publisher = "Japanese Society of Internal Medicine",
number = "23",
}