Implications of Mutations of Activin Receptor-Like Kinase 1 Gene (<i>ALK1</i>) in Addition to Bone Morphogenetic Protein Receptor II Gene (<i>BMPR2</i>) in Children With Pulmonary Arterial Hypertension

Abstract

Each proband with the ALK1 mutation developed PAH, as did the probands with the BMPR2 mutation. Hence, it is proposed that ALK1 plays as notable a role as BMPR2 in the etiology of PAH. Furthermore, asymptomatic carriers with the ALK1 mutation within the serine - threonine kinase domain are at risk of developing PAH and hereditary hemorrhagic telangiectasia, so close follow-up is recommended for those individuals.