Pulmonary atresia is a form of congenital heart disease in which the pulmonary valve does not form properly. The pulmonary valve is an opening on the right side of the heart that regulates blood flow from the right ventricle (right side pumping chamber) to the lungs.

In pulmonary atresia, a solid sheet of tissue forms where the valve opening should be, and the valve remains closed. Because of this defect, blood from the right side of the heart cannot go to the lungs to pick up oxygen.

Causes

As with most congenital heart diseases, there is no known cause of pulmonary atresia. The condition is associated with another type of congenital heart defect called a patent ductus arteriosus (PDA).

Persons with pulmonary atresia may also have a poorly developed tricuspid valve. They may also have an underdeveloped right ventricle and abnormal blood vessels feeding the heart.

Pulmonary atresia may occur with or without a ventricular septal defect (VSD). If the person does not have a VSD, the condition is called pulmonary atresia with intact ventricular septum (PA/IVS). If the person has both problems, the condition is called pulmonary atresia with VSD. This is an extreme form of tetralogy of Fallot. Although both conditions are called pulmonary atresia, they are actually different defects.

Symptoms

Symptoms usually occur in the first few hours of life, although it may take up to a few days.

Symptoms may include:

• Bluish colored skin (cyanosis)
• Fast breathing
• Fatigue
• Poor eating habits (babies may get tired while nursing or sweat during feedings)
• Shortness of breath

Exams and Tests

The health care provider will use a stethoscope to listen to the heart and lungs. Persons with a PDA have a heart murmur that can be heard with a stethoscope.

The following tests may be ordered:

• Chest x-ray
• Echocardiogram
• Electrocardiogram (ECG)
• Heart catheterization
• Pulse oximetry - shows the amount of oxygen in the blood

Treatment

A medicine called prostaglandin E1 is usually used to help the blood move (circulate) into the lungs. This medicine keeps a blood vessel open between the pulmonary artery and aorta. The vessel is called a patent ductus arteriosus (PDA).

Other treatments include:

• Heart catheterization to repair the problem
• Open heart surgery to repair or replace the valve, or to place a tube between the right ventricle and the pulmonary (lung) arteries
• Reconstructing the heart as a single ventricle (for some patients)
• Heart transplant

Outlook (Prognosis)

Most cases can be helped with surgery. However, how well a baby does depends on:

• Quality of the blood vessels supplying the heart
• How well the heart is beating
• Amount of leakiness of the other heart valves

Outcomes can vary because of the different forms of this defect. The baby could have only a single catheter-based procedure, or could need three or more surgeries and have only a single working ventricle. The outcome is difficult to predict without knowing all details about the patient's condition.

Possible Complications

• Delayed growth and development
• Seizures
• Stroke
• Infectious endocarditis
• Heart failure
• Death

When to Contact a Medical Professional

Call your health care provider if the baby has:

• Problems breathing
• Skin or nails that appear blue (cyanosis)

Prevention

There is no known prevention.

All pregnant women should receive routine prenatal care. Many congenital defects can be discovered on routine ultrasound examinations. If the defect is found before birth, medical specialists (such as a pediatric cardiologist, cardiothoracic surgeon, and neonatologist) can be present at the birth, and ready to help as needed. This preparation can mean the difference between life and death for some babies.

Alternative Names

Pulmonary atresia - intact ventricular septum; PA/IVS