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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
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...
| Autores principales: | , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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The Japanese Society of Internal Medicine
2017
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5742392/ https://www.ncbi.nlm.nih.gov/pubmed/29021450 http://dx.doi.org/10.2169/internalmedicine.8686-16 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Tatebe, Shunsuke |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-5742392 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2017 |
| publisher | The Japanese Society of Internal Medicine |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-57423922017-12-27 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 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 Intern Med Case Report 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. The Japanese Society of Internal Medicine 2017-10-11 2017-12-01 /pmc/articles/PMC5742392/ /pubmed/29021450 http://dx.doi.org/10.2169/internalmedicine.8686-16 Text en Copyright © 2017 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/ The Internal Medicine is an Open Access article distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/). |
| spellingShingle | Case Report 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 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 |
| 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| topic | Case Report |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5742392/ https://www.ncbi.nlm.nih.gov/pubmed/29021450 http://dx.doi.org/10.2169/internalmedicine.8686-16 |
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