Abnormal Pulmonary Artery Pressure Response in Asymptomatic Carriers of Primary Pulmonary Hypertension Gene

We conclude that the pathological rise of PASP in asymptomatic family members is linked to chromosome 2q31-32 and is probably an early sign of PPH. Therefore, stress Doppler echocardiography may be a useful tool to identify persons at risk for PPH even before pulmonary artery pressures at rest are elevated.