The Efficacy of a Genetic Analysis of the <i>BMPR2</i> Gene in a Patient with Severe Pulmonary Arterial Hypertension and an Atrial Septal Defect Treated with Bilateral Lung Transplantation
-
- Tatebe Shunsuke
- Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Japan
-
- Sugimura Koichiro
- Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Japan
-
- Aoki Tatsuo
- Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Japan
-
- Yamamoto Saori
- Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Japan
-
- Yaoita Nobuhiro
- Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Japan
-
- Suzuki Hideaki
- Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Japan
-
- Sato Haruka
- Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Japan
-
- Kozu Katsuya
- Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Japan
-
- Konno Ryo
- Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Japan
-
- Satoh Kimio
- Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Japan
-
- Fukuda Koji
- Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Japan
-
- Adachi Osamu
- Department of Cardiovascular Surgery, Tohoku University Graduate School of Medicine, Japan
-
- Saito Ryoko
- Department of Pathology, Tohoku University School of Medicine, Japan
-
- Nakanishi Norifumi
- Division of Pulmonary Circulation, Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Japan
-
- Morisaki Hiroko
- Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Japan Department of Medical Genetics, Sakakibara Heart Institute, Japan
-
- Oyama Kotaro
- Department of Pediatrics, Iwate Medical University, Japan
-
- Saiki Yoshikatsu
- Department of Cardiovascular Surgery, Tohoku University Graduate School of Medicine, Japan
-
- Okada Yoshinori
- Department of Thoracic Surgery, Institute of Development, Aging and Cancer, Tohoku University, Japan
-
- Shimokawa Hiroaki
- Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Japan
抄録
<p>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. </p>
収録刊行物
-
- Internal Medicine
-
Internal Medicine 56 (23), 3193-3197, 2017
一般社団法人 日本内科学会
