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.
Copyright © 2013 The Japanese Respiratory Society. Published by Elsevier B.V. All rights reserved.