Isolated Pulmonary Arteriovenous Malformations Associated With BMPR2 Pathogenic Variants

Heritable pulmonary arterial hypertension (PAH) is an uncommon cause of PAH and is associ-ated most frequently with pathogenic variants of BMPR2. Prior studies have described abnor-malities in pulmonary arterial, venous, and bronchial artery vessels associated with these pathogenic variants. In this series, we describe two patients who demonstrated pulmonary arteriovenous malformations (AVMs) and incidentally were identified by a next generation sequencing gene panel to carry variants of BMPR2 in the absence of PAH. Although pulmonary AVMs commonly are associated with hereditary hemorrhagic telangiectasia and rarely are seen in heritable PAH, evidence is increasing that abnormalities in the BMP9 pathway are found in both of these conditions. Through these cases and the current understanding of the BMP9 pathway, we propose that BMPR2 variants place patients at increased risk of pulmonary AVMs and may warrant screening.

Automated summary

Heritable pulmonary arterial hypertension (PAH) is often associated with pathogenic variants of BMPR2. This study describes two patients with pulmonary arteriovenous malformations (AVMs) who were found to carry variants of BMPR2 through gene sequencing. Through these cases and understanding of the BMP9 pathway, it is suggested that BMPR2 variants may increase the risk of pulmonary AVMs.