This condition may occur as a complicating feature of complex congenital heart disease or underlying chronic lung disease, but it may also occur in infants with otherwise normal hearts and lungs. This is called Isolated pulmonary vein stenosis; it occurs in early infancy and usually progresses very rapidly. Infants with this disease may seem well for weeks before they develop difficulty breathing and low oxygen levels. They may become quite ill quickly. The effects of the disease vary in children with co-existing congenital heart defects.

The cells are also known to grow abnormally in several different disease processes in both children and adults. It appears that this cell type plays a role in the development of pulmonary vein stenosis. Current treatment focuses upon removal of the obstruction and prevention of progression and recurrence of this abnormal cell growth.