Here we characterize the plasma levels of BMP9 and pBMP10 and serum‐derived endothelial BMP activity in two pediatric patients homozygous for GDF2 nonsense mutations, a PAH patient (p.[Gln26Ter];[Gln26Ter]) and a second patient (p.[Glu279Ter];[Glu279Ter]) who exhibit a phenotype of PAVMs and cutaneous telangiectases, with no evidence of PAH. Here, GDF2 is linked to pulmonary arterial hypertension.