Pulmonary Hypertension (PAH) is a rare and serious disease that affects people of all ages, from newborns to the elderly. Its key characteristic is abnormally high blood pressure in arteries that connect the heart to the lungs and take up oxygen. The causes of PAH are variable, depending on the age at onset. Like adult pulmonary hypertension, childhood, or pediatric pulmonary hypertension may have a range of causes, or no cause may be evident, in which case it is called idiopathic.

What happens in PAH? In PAH, the pulmonary arterioles (the tiny branches of the PAs) narrow down. This may be because of the thickening and ultimately the closing down of their walls. It may also occur as a temporary spasm, in response to a stimulus.

Symptoms: Shortness of breath, fainting, fatigue, turning blue, not growing appropriately.

Causes:  In infants, PAH can present in the neonatal period with persistent pulmonary hypertension of newborn (PPHN), or in association with congenital diaphragmatic hernia (CDH), congenital heart disease  and/or genetic disorders. Infants who are born extremely preterm may develop lung disease (bronchopulmonary dysplasia), and a subset of these may also develop pulmonary hypertension. In older children, causes may include those listed for infants above, as well as idiopathic/heritable PAH, connective tissue diseases, hematologic diseases and clots in the lungs (thromboembolic PAH).

Diagnosis: Diagnosis is usually made via an echocardiogram, and confirmed by cardiac catheterization, lab testing, lung function testing, and other imaging.

Treatment: Several classes of medications are used for treatment of PAH.

Related disorders: Congenital heart disease, scleroderma, lupus, sickle cell and other hematologic diseases, as well as genetic disorders can be related to PAH. For more information, please see the “For Patients and Families” page.