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

doi:10.2169/internalmedicine.8686-16

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 journal › Article › peer-review

2 Citations (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 language	English
Pages (from-to)	3193-3197
Number of pages	5
Journal	Internal Medicine
Volume	56
Issue number	23
DOIs	https://doi.org/10.2169/internalmedicine.8686-16
Publication status	Published - 2017

Keywords

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

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10.2169/internalmedicine.8686-16

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Tatebe, S., Sugimura, K., Aoki, T., Yamamoto, S., Yaoita, N., Suzuki, H., Sato, H., Kozu, K., Konno, R., Satoh, K., Fukuda, K., Adachi, O., Saito, R., Nakanishi, N., Morisaki, H., Oyama, K., Saiki, Y., Okada, Y., & Shimokawa, H. (2017). 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. Internal Medicine, 56(23), 3193-3197. https://doi.org/10.2169/internalmedicine.8686-16

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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",

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year = "2017",

doi = "10.2169/internalmedicine.8686-16",

language = "English",

volume = "56",

pages = "3193--3197",

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Tatebe, S, Sugimura, K, Aoki, T, Yamamoto, S , Yaoita, N , Suzuki, H , Sato, H, Kozu, K, Konno, R, Satoh, K, Fukuda, K, Adachi, O, Saito, R, Nakanishi, N, Morisaki, H, Oyama, K, Saiki, Y , Okada, Y & Shimokawa, H 2017, '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', Internal Medicine, vol. 56, no. 23, pp. 3193-3197. https://doi.org/10.2169/internalmedicine.8686-16

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. / Tatebe, Shunsuke; Sugimura, Koichiro; Aoki, Tatsuo et al.
In: Internal Medicine, Vol. 56, No. 23, 2017, p. 3193-3197.

Research output: Contribution to journal › Article › peer-review

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T1 - 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

AU - Tatebe, Shunsuke

AU - Sugimura, Koichiro

AU - Aoki, Tatsuo

AU - Yamamoto, Saori

AU - Yaoita, Nobuhiro

AU - Suzuki, Hideaki

AU - Sato, Haruka

AU - Kozu, Katsuya

AU - Konno, Ryo

AU - Satoh, Kimio

AU - Fukuda, Koji

AU - Adachi, Osamu

AU - Saito, Ryoko

AU - Nakanishi, Norifumi

AU - Morisaki, Hiroko

AU - Oyama, Kotaro

AU - Saiki, Yoshikatsu

AU - Okada, Yoshinori

AU - Shimokawa, Hiroaki

PY - 2017

Y1 - 2017

N2 - 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.

AB - 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.

KW - Atrial septal defect

KW - BMPR2 mutation

KW - Congenital heart disease

KW - Eisenmenger syndrome

KW - Lung transplantation

KW - Pulmonary arterial hypertension

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JO - Internal Medicine

JF - Internal Medicine

IS - 23

ER -

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

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