Stress-Doppler-echocardiography in relatives of patients with idiopathic and familial pulmonary arterial hypertension: results of a multicenter European analysis of pulmonary artery pressure response to exercise and hypoxia

Abstract

Background: This large prospective multicentric study was performed to analyse the distribution of tricuspid regurgitation velocity (TRV) values during exercise and hypoxia in relatives of patients with idiopathic (I) and familial (F) pulmonary arterial hypertension (PAH) and in healthy controls. We tested the hypothesis that relatives of I/FPAH patients display an enhanced frequency of hypertensive TRV response to stress and that such response is associated with mutations in the bone morphogenetic protein receptor II (BMPR2) gene.