• Mithum Kularatne, Mélanie Eyries, Laurent Savale, Marc Humbert, and David Montani.
• Faculty of Medicine, Université Paris-Saclay, Le Kremlin-Bicêtre, France; AP-HP, Department of Respiratory and Intensive Care Medicine, Pulmonary Hypertension National Referral Centre, Hôpital Bicêtre, DMU 5 Thorinno, Le Kremlin-Bicêtre, France; INSERM UMR_S 999 "Pulmonary Hypertension: Pathophysiology and Novel Therapies", Hôpital Marie Lannelongue, Le Plessis Robinson, France; University of Calgary, Calgary, AB, Canada.
• Chest. 2023 Aug 1; 164 (2): e23e26e23-e26.

AbstractHeritable pulmonary arterial hypertension (PAH) is an uncommon cause of PAH and is associated most frequently with pathogenic variants of BMPR2. Prior studies have described abnormalities 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.Copyright © 2023 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.

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