Pulmonary atresia is an extremely rare form of congenital heart disease in which the pulmonary valve does not form properly. The pulmonary valve is a flap-like opening on the right side of the heart that allows blood to move to the lungs.

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

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.

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

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

The following tests may be ordered:

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

A medicine called prostaglandin E1 is usually used to help the blood move (circulate) into the lungs.

Other treatments include:

• Interventional heart catheterization to repair the problem.
• Open heart surgery to repair or replace the valve. This surgery can also be used to place a tube between the right ventricle and the pulmonary (lung) arteries.
• For some patients, the surgeon may reconstruct the heart as a single ventricle.
• Heart transplant

Most cases can be helped with surgery. However, how well a baby does depends on the quality of the blood vessels supplying the heart, how well the heart is beating, and the amount of leakiness of the other heart valves.

Some patients who have PA/IVS where the right ventricle is extremely small usually have several surgeris to help simulate normal circulation, but the surgeries do not exactly re-create normal circulation. A subgroup of these patients also have abnormal blood supply to the heart.

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

Call your health care provider if the baby has:

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

There is no known prevention.

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

Zipes DP, Libby P, Bonow RO, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 8th ed. St. Louis, Mo; WB Saunders; 2007.