The problem occurs as the heart is forming during the first eight weeks of fetal development.

Some congenital heart defects may have a genetic link, either occurring due to a defect in a gene, a chromosome abnormality, or environmental exposure, causing heart problems to occur more often in certain families. Most of the time, this heart defect occurs sporadically (by chance), with no clear reason for its development.

Cyanosis (blue color) is often present to some degree immediately after birth. Depending on other structural differences in the heart, it could range from mild to profound. The degree of cyanosis is related to the presence of other defects that allow blood to mix, including a patent (open) ductus arteriosus that is used to bypass the lungs during fetal life. This ductus arteriosus begins closing shortly after birth. Closure is prompted by the introduction of oxygen into the blood once the baby starts breathing on it’s own. Closure of this ductus starts within hours of being born and can take a few days to weeks. As the ductus closes the cyanosis will increase.

Some babies will have developed extra blood vessels, called collateral vessels, that take blood from an artery to the lungs. Depending on the size of these vessels, the baby may not be blue as early and may not need a surgical intervention for a longer period. Eventually, however, the baby will outgrow the capacity of these vessels to get enough blood to the lungs for oxygenation.

The following are the most common symptoms of pulmonary atresia. However, each child may experience symptoms differently. Symptoms may include:

• Rapid breathing
• Difficulty breathing
• Irritability
• Lethargy
• Pale, cool, or clammy skin
• Cyanosis

The symptoms of pulmonary atresia may resemble other medical conditions or heart problems. Always consult your child's physician for a diagnosis.

A pediatric cardiologist and/or a neonatologist may be involved in your child's care. A pediatric cardiologist specializes in the diagnosis and medical management of congenital heart defects, as well as heart problems that may develop later in childhood. A neonatologist specializes in illnesses affecting newborns, both premature and full-term.

Cyanosis is a major indication that there is a problem with your newborn. Your child's physician may have also heard a heart murmur during a physical examination. A heart murmur is simply a noise caused by the turbulence of blood flowing through the openings that allow the blood to mix.

Diagnostic Tests

Other diagnostic tests are needed to help with the diagnosis, and may include:

• Chest X-ray, a diagnostic test which uses invisible electromagnetic energy beams to produce images of internal tissues, bones and organs onto film
• Electrocardiogram (ECG or EKG), a test that records the electrical activity of the heart, shows abnormal rhythms (arrhythmias or dysrhythmias), and detects heart muscle stress
• Echocardiogram (echo), a procedure that evaluates the structure and function of the heart by using sound waves recorded and displayed on a screen that produce a moving picture of the heart and heart valves
• Cardiac catheterization, an invasive procedure that gives very detailed information about the structures inside the heart. Under sedation, a small, thin, flexible tube (catheter) is inserted into a blood vessel in the groin, and guided to the inside of the heart. Blood pressure and oxygen measurements are taken in the four chambers of the heart, as well as the pulmonary artery and aorta. Contrast dye is also injected to more clearly visualize the structures inside the heart.

This heart defect is often picked up before birth, during an ultrasound. Your obstetrician will refer you to a specialist who will perform a fetal echocardiogram. This can give you a chance to learn about this defect, and also helps your doctors prepare for the birth of your baby. When this diagnosis is known before birth, the baby can be stabilized with a medicine that can keep the fetal connections open until the baby is thoroughly examined and has an echocardiogram to confirm whether the baby will need surgery in the newborn period.

Specific treatment for pulmonary atresia will be determined by your child's physician based on:

• Your child's age, overall health and medical history
• Extent of the disease
• Your child's tolerance for specific medications, procedures, or therapies
• Expectations for the course of the disease
• Your opinion or preference 

Adults with pulmonary atresia present in one of two ways. If they have not had surgical correction of their congenital heart disease, they are blue or cyanotic. All cyanotic patients require careful surveillance and management by congenital heart experts. Some patients who had pulmonary atresia will have had surgical correction of various types. All of these require lifelong surveillance by congenital heart experts.

Learn more about the Adolescent and Adult Congenital Heart Disease Program.