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Respir Investig. 2014 May;52(3):195-8. doi: 10.1016/j.resinv.2013.08.003. Epub 2013 Sep 10.

BMPR2 gene mutation in pulmonary arteriovenous malformation and pulmonary hypertension: a case report.

Author information

1
Department of Respiratory Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Electronic address: hanta@kuhp.kyoto-u.ac.jp.
2
Department of Internal Medicine, Hanwa Daini Senboku Hospital, Sakai, Japan. Electronic address: yokano2@kuhp.kyoto-u.ac.jp.
3
Division of Pulmonary Circulation, Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Suita, Japan. Electronic address: nnakanis@hsp.ncvc.go.jp.
4
Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Suita, Japan. Electronic address: morisaki@ri.ncvc.go.jp.
5
Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Suita, Japan. Electronic address: hirokom@ri.ncvc.go.jp.
6
Department of Respiratory Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Electronic address: mishima@kuhp.kyoto-u.ac.jp.

Abstract

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.

KEYWORDS:

Ambrisentan; Bone morphogenetic protein receptor type 2; Pulmonary arterial hypertension; Pulmonary arteriovenous malformation; Sildenafil

PMID:
24853021
DOI:
10.1016/j.resinv.2013.08.003
[Indexed for MEDLINE]
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