Overview, Causes, & Risk Factors

Pulmonary atresia is a serious birth defect in the heart which causes congenital heart disease.

What is going on in the body?

The heart has four chambers. One of these chambers is called the right ventricle. The job of the right ventricle is to pump blood into the main lung arteries so the lungs can give oxygen to the blood. In pulmonary atresia, the opening of the right ventricle that leads to the main lung arteries is abnormally formed. The opening is either severely narrowed or absent. Blood cannot be effectively pumped into the lungs, which results in symptoms due to low oxygen in the blood. Affected babies usually have other heart and blood vessel defects as well.

What are the causes and risks of the condition?

As with most birth defects, the cause is usually unknown. Some cases may be caused by:

Symptoms & Signs

What are the signs and symptoms of the condition?

This condition affects the infant within the first few days after birth and generally causes:

Diagnosis & Tests

How is the condition diagnosed?

The healthcare provider may suspect pulmonary atresia when he or she examines the child. An echocardiogram, which is an imaging test that uses ultrasound, can show the heart defect. Additional special x-ray tests may be needed to define the exact type of heart defect.

Prevention & Expectations

What can be done to prevent the condition?

All women of childbearing age should make sure they have received standard vaccine shots before getting pregnant. A woman who is taking any medications should talk to the healthcare provider about the risk of birth defects should she get pregnant. Alcohol should not be used during pregnancy. Genetic counseling may be helpful for couples with a personal or family history of birth defects.

What are the long-term effects of the condition?

Most children with this condition cannot survive without aggressive, immediate treatment. Even with the best treatment available, an infant may die from the condition.

What are the risks to others?

There generally are no risks to others. Parents with an affected child may have a higher risk of having a second child with heart defects.

Treatment & Monitoring

What are the treatments for the condition?

Emergency treatment is usually needed. The infant may need to be put on a ventilator, or artificial breathing machine. Special medications are usually needed to keep the infant alive while waiting for surgery. Open heart surgery is generally the only hope for a cure. Without it, infants will usually die.

What are the side effects of the treatments?

Death can occur even with excellent treatment, as these children are very sick and frail. Surgery carries a risk of bleeding, infection, or allergic reaction to anesthesia.

What happens after treatment for the condition?

If the surgery is successful, the child may recover completely. Affected children usually need to visit healthcare providers regularly for several years to monitor for further heart problems.

How is the condition monitored?

Before and after surgery, intensive monitoring is required. This may include blood tests, x-ray tests, urine tests, and other monitoring. The child will need close monitoring by a heart specialist for several years after surgery.