CHEST Guidelines-Isolated-Pulmonary-Arteriovenous-Malformations-Ass

Isolated-Pulmonary-Arteriovenous-Malformations-Ass

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The document describes two case studies of patients with isolated pulmonary arteriovenous malformations (AVMs) linked to BMPR2 pathogenic variants without concurrent pulmonary arterial hypertension (PAH). Traditionally, PAH is often connected to BMPR2 variants, and pulmonary AVMs are associated with hereditary hemorrhagic telangiectasia (HHT), though they rarely appear with heritable PAH. This document proposes that abnormalities in the BMP9 signaling pathway, relevant to both PAH and HHT, may explain the observed AVMs in patients with BMPR2 variants.<br /><br />The first case is a 49-year-old woman with a past ischemic stroke and no signs of HHT but possessing a BMPR2 variant previously reported in a PAH patient. The second case is a 54-year-old woman with mild COVID-19, exhibiting epistaxis and a similar family history. This patient had a different BMPR2 variant classified as a variant of unknown significance.<br /><br />The report suggests that BMPR2 variants may predispose individuals to pulmonary AVMs, possibly via a disturbed BMP9 pathway. Historically, BMPR2 variants are predominantly linked to PAH, while ACVRL1 and ENG mutations relate to HHT. The cases support an evolving understanding that BMPR2 variants might also cause vascular irregularities, mirroring HHT.<br /><br />In conclusion, the study proposes a potential causal link between BMPR2 variants and pulmonary AVMs through BMP9 signaling disruptions. It recommends considering screening individuals with these genetic variants for such vascular anomalies using high-resolution chest CT scans. Overall, the document underscores increased risk awareness and further investigation into the role of the BMP9 pathway in vascular abnormalities among patients with BMPR2 variations.

Keywords

pulmonary arteriovenous malformations

BMPR2 pathogenic variants

pulmonary arterial hypertension

hereditary hemorrhagic telangiectasia

BMP9 signaling pathway

ischemic stroke

epistaxis

vascular irregularities

high-resolution chest CT scans

genetic screening