BMPR2 gene mutation in pulmonary arteriovenous malformation and pulmonary hypertension: a case report.
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.
Department of Respiratory Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Electronic address: hanta@kuhp.kyoto-u.ac.jp.
Tomohiro
T
Handa
Department of Internal Medicine, Hanwa Daini Senboku Hospital, Sakai, Japan. Electronic address: yokano2@kuhp.kyoto-u.ac.jp.
Yoshiaki
Y
Okano
Division of Pulmonary Circulation, Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Suita, Japan. Electronic address: nnakanis@hsp.ncvc.go.jp.
Norifumi
N
Nakanishi
Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Suita, Japan. Electronic address: morisaki@ri.ncvc.go.jp.
Takayuki
T
Morisaki
Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Suita, Japan. Electronic address: hirokom@ri.ncvc.go.jp.
Hiroko
H
Morisaki
Department of Respiratory Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Electronic address: mishima@kuhp.kyoto-u.ac.jp.
Michiaki
M
Mishima
D000328:Adult; D001165:Arteriovenous Malformations / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D052006:Bone Morphogenetic Protein Receptors, Type II / Q000235:genetics* / Q000502:physiology*; D015444:Exercise; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006439:Hemodynamics; D006801:Humans; D006976:Hypertension, Pulmonary / Q000235:genetics*; D009154:Mutation; D010101:Oxygen Consumption; D011651:Pulmonary Artery / Q000002:abnormalities*; D011667:Pulmonary Veins / Q000002:abnormalities*
C498218:BMPR2 protein, human; D052006:Bone Morphogenetic Protein Receptors, Type II
Ambrisentan; Bone morphogenetic protein receptor type 2; Pulmonary arterial hypertension; Pulmonary arteriovenous malformation; Sildenafil