严重肺动脉高压合并房间隔缺损患者经双侧肺移植治疗后BMPR2基因遗传分析的疗效
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.
作者信息
Tatebe Shunsuke, Sugimura Koichiro, Aoki Tatsuo, Yamamoto Saori, Yaoita Nobuhiro, Suzuki Hideaki, Sato Haruka, Kozu Katsuya, Konno Ryo, Satoh Kimio, Fukuda Koji, Adachi Osamu, Saito Ryoko, Nakanishi Norifumi, Morisaki Hiroko, Oyama Kotaro, Saiki Yoshikatsu, Okada Yoshinori, Shimokawa Hiroaki
机构信息
Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Japan.
Department of Cardiovascular Surgery, Tohoku University Graduate School of Medicine, Japan.
出版信息
Intern Med. 2017 Dec 1;56(23):3193-3197. doi: 10.2169/internalmedicine.8686-16. Epub 2017 Oct 11.
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.
严重肺动脉高压（PAH）在患有房间隔缺损（ASD）的儿童中很少发生，即使是那些有大缺损的儿童。我们在此报告一例27岁男性病例，他患有中等大小的继发孔型ASD，并因严重PAH导致右心室衰竭，该病在他十几岁时就已出现。他被诊断为骨形态发生蛋白受体-2（BMPR2）基因发生基因突变，并通过双侧肺移植并关闭ASD通道获得成功治疗。对于先天性心脏病患者，基因分析可能会提供有关发生PAH终生风险的信息。
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