2014年
BMPR2 gene mutation in pulmonary arteriovenous malformation and pulmonary hypertension: A case report
Respiratory Investigation
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- 巻
- 52
- 号
- 3
- 開始ページ
- 195
- 終了ページ
- 198
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1016/j.resinv.2013.08.003
- 出版者・発行元
- Elsevier
The transforming growth factor-β superfamily signaling pathway is thought to be involved in the pathogenesis of pulmonary arteriovenous malformation (PAVM). However, the association between bone morphogenetic protein receptor type 2 (BMPR2) gene mutations and PAVM remains unclear. We present a case of concurrent PAVM and pulmonary arterial hypertension (PAH), with a deletion mutation in exon 6 and exon 7 of the BMPR2 gene. Drug treatment for PAH improved the patient's hemodynamics and exercise capacity, but worsened oxygenation. This case suggests that BMPR2 gene mutation may be associated with the complex presentation of PAVM combined with PAH. © 2013 The Japanese Respiratory Society.
- リンク情報
- ID情報
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- DOI : 10.1016/j.resinv.2013.08.003
- ISSN : 2212-5353
- ISSN : 2212-5345
- PubMed ID : 24853021
- SCOPUS ID : 84901244892