LAUSR

Pulmonary arterial hypertension (PAH) is a progressively fatal disease process affecting the small distal arteries of the pulmonary vasculature. It is characterized by vascular remodeling, proliferation, and subsequent vasocontraction leading to right heart failure. In idiopathic pulmonary artery hypertension (IPAH), an increasing number of culprit genes have been identified, with BMPR2 being the most common. However, emerging literature has noted that the genetic basis for IPAH development is different between adults and children. NOTCH3 is one such example, with all reported cases seen only in children. Missense mutations in NOTCH3 lead to pulmonary artery smooth muscle cell proliferation, vasoconstriction, and reduced apoptosis. Here, we report the first identified case of NOTCH3 mutation in an adult patient with IPAH.