Pulmonary vascular phenotype identified in patients with GDF2 (BMP9) or BMP10 variants: an international multicentre study

Conclusions GDF2 and BMP10 pathogenic variants are rare among PAH patients, and occasionally associated with CHD. HHT cases among GDF2 carriers are limited according to the literature. BMP10 full phenotypic ramifications warrant further investigation.

http://erj.ersjournals.com/cgi/content/short/63/4/2301634?rss=1

Source: European Respiratory Journal - April 4, 2024 Category: Respiratory Medicine Authors: Grynblat, J., Bogaard, H. J., Eyries, M., Meyrignac, O., Savale, L., Jaïs, X., Ghigna, M.-R., Celant, L., Meijboom, L., Houweling, A. C., Levy, M., Antigny, F., Chaouat, A., Cottin, V., Guignabert, C., Coulet, F., Sitbon, O., Bonnet, D., Humbert, Tags: Pulmonary vascular disease Original Articles: Pulmonary vascular disease Source Type: research