Isolated Pulmonary Arteriovenous Malformations Associated With BMPR2 Pathogenic Variants.
BMPR2
arteriovenous malformations
hereditary hemorrhagic telangiectasia
Journal
Chest
ISSN: 1931-3543
Titre abrégé: Chest
Pays: United States
ID NLM: 0231335
Informations de publication
Date de publication:
08 2023
08 2023
Historique:
received:
15
01
2023
revised:
18
04
2023
accepted:
19
04
2023
medline:
11
8
2023
pubmed:
25
4
2023
entrez:
24
04
2023
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 37094738
pii: S0012-3692(23)00606-2
doi: 10.1016/j.chest.2023.04.031
pii:
doi:
Substances chimiques
BMPR2 protein, human
EC 2.7.11.30
Bone Morphogenetic Protein Receptors, Type II
EC 2.7.11.30
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
e23-e26Informations de copyright
Copyright © 2023 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.