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Isolated Pulmonary Arteriovenous Malformations Associated With BMPR2 Pathogenic Variants

Mithum Kularatne1, Mélanie Eyries2, Laurent Savale3

  • 1Faculty 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
|April 24, 2023
PubMed
Summary

Pathogenic variants in BMPR2 may increase the risk of developing pulmonary arteriovenous malformations (AVMs), even without pulmonary arterial hypertension (PAH). This suggests BMPR2 variants could warrant screening for AVMs.

Keywords:
BMPR2arteriovenous malformationshereditary hemorrhagic telangiectasia

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