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Isolated Pulmonary Arteriovenous Malformations Associated With BMPR2 Pathogenic Variants.
- Source :
-
Chest [Chest] 2023 Aug; Vol. 164 (2), pp. e23-e26. Date of Electronic Publication: 2023 Apr 23. - Publication Year :
- 2023
-
Abstract
- Heritable 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.<br /> (Copyright © 2023 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.)
- Subjects :
- Humans
Familial Primary Pulmonary Hypertension complications
Bone Morphogenetic Protein Receptors, Type II genetics
Arteriovenous Malformations complications
Arteriovenous Malformations diagnostic imaging
Arteriovenous Malformations genetics
Telangiectasia, Hereditary Hemorrhagic complications
Telangiectasia, Hereditary Hemorrhagic diagnosis
Telangiectasia, Hereditary Hemorrhagic genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1931-3543
- Volume :
- 164
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Chest
- Publication Type :
- Report
- Accession number :
- 37094738
- Full Text :
- https://doi.org/10.1016/j.chest.2023.04.031