Julien Grynblat, Harm-Jan Bogaard, Mélanie Eyries, Olivier Meyrignac, Laurent Savale, Xavier Jais, Maria-Rosa Ghigna, Lucas Celant, Lilian Meijboom, Arjan Houweling, Marilyne Levy, Fabrice Antigny, Ari Chaouat, Vincent Cottin, Christophe Guignabert, Florence Coulet, Olivier Sitbon, Damien Bonnet, Marc Humbert, David Montani
BACKGROUND: Bone morphogenetic proteins 9 and 10 (BMP9 and BMP10), encoded by GDF2 and BMP10 , play a pivotal role in pulmonary vascular regulation. GDF2 variants have been reported in pulmonary arterial hypertension (PAH) and hereditary haemorrhagic telangiectasia (HHT). However, the phenotype of GDF2 and BMP10 carriers remains largely unexplored. METHODS: We report the characteristics and outcomes of PAH patients in GDF2 and BMP10 carriers from the French and Dutch PH registry...
March 21, 2024: European Respiratory Journal