Pulmonary atresia

Diagnosis

Pulmonary atresia is usually diagnosed soon after birth. Tests are done to check the baby's heart health.

Tests

Tests to diagnose pulmonary atresia may include:

• Pulse oximetry. A sensor placed on the fingertip records the amount of oxygen in the blood. Too little oxygen may be a sign of a heart or lung problem.
• Chest X-ray. A chest X-ray shows the size and shape of the heart and lungs.
• Electrocardiogram (ECG or EKG). This quick and painless test records the electrical activity of the heart. It shows how the heart is beating. Sticky patches called electrodes are put on the chest and sometimes the arms and legs. Wires connect the patches to a computer, which prints or displays the results.
• Echocardiogram. This test uses sound waves to create pictures of the beating heart. An echocardiogram is usually the main test to diagnose pulmonary atresia. It shows how blood moves through the heart and heart valves. If an echocardiogram is done on a baby before birth, it's called a fetal echocardiogram.
• Cardiac catheterization. A doctor threads a thin tube called a catheter through a blood vessel in the arm or groin to an artery in the heart. Dye is sent through the catheter. This makes the heart arteries show up more clearly on an X-ray. The test can provide detailed information on blood flow and how the heart works. Certain heart treatments can be done during cardiac catheterization.

Treatment

Babies need emergency medical care for pulmonary atresia symptoms. The choice of surgeries or procedures depends on how severe the condition is.

Medications

Medicine may be given through an IV to keep the ductus arteriosus open. This is not a long-term treatment for pulmonary atresia. But it gives healthcare professionals more time to decide what type of surgery or procedure might be best.

Surgery or other procedures

Sometimes, pulmonary atresia treatment can be done using a long, thin tube called a catheter. A doctor places the tube into a large blood vessel in a baby's groin and guides it to the heart. Catheter-based procedures for pulmonary atresia include:

• Balloon atrial septostomy. A balloon is used to enlarge the natural hole in the wall between the upper chambers of the heart. This hole, called the foramen ovale, most often closes soon after birth. Making the hole larger lets blood move easily from the right side of the heart to the left side.
• Stent placement. A doctor may put a rigid tube called a stent in the ductus arteriosus to prevent it from closing. This keeps blood flowing to the lungs.

Babies with pulmonary atresia often need many heart surgeries over time. The type of heart surgery depends on the size of the child's lower right heart chamber and pulmonary artery.

Types of surgery for pulmonary atresia include:

• Shunting. This involves making a new route for blood to flow, called a bypass shunt. The shunt goes from the main blood vessel leading out of the heart, called the aorta, to the pulmonary arteries. This lets enough blood flow to the lungs. But most babies outgrow this shunt within a few months.
• Glenn procedure. In this surgery, one of the large veins that returns blood to the heart is joined to the pulmonary artery. Another large vein keeps blood flowing to the right side of the heart. The heart then pumps it through the pulmonary valve that's been repaired. This can help the right ventricle grow.
• Fontan procedure. If the right lower heart chamber stays too small to do its work, surgeons may use this procedure to make a pathway. The pathway lets most, if not all, of the blood coming to the heart to flow into the pulmonary artery.
• Heart transplant. In some cases, the heart is too damaged to fix. Then a heart transplant may be needed.

If the baby also has a ventricular septal defect (VSD), surgery is done to patch the hole. Then the surgeon makes a connection from the right pumping chamber to the pulmonary artery. This repair may use an artificial valve.

Clinical trials

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this condition.

Lifestyle and home remedies

Here are some tips for caring for someone with pulmonary atresia after coming home from the hospital:

• Go to scheduled health checkups. A person born with pulmonary atresia needs regular checkups, even as an adult. A doctor trained in congenital heart diseases, called a congenital cardiologist, often provides care. Get recommended vaccines, including yearly flu vaccines.
• Ask about exercise and activity. Some children with a congenital heart defect may need to limit exercise or sports activities. However, many others with a congenital heart defect can participate in such activities. Your child's care team can tell you which sports and types of exercise are safe for your child.
• Practice good oral hygiene. Brushing and flossing teeth and getting regular dental checkups can help prevent infection.
• Ask about preventive antibiotics. Sometimes, a congenital heart defect can increase the risk of infection in the lining of the heart or heart valves. This infection is called infective endocarditis. Antibiotics may be recommended before dental procedures to prevent infection, especially for people who have a mechanical heart valve.

Coping and support

Talking with other parents who have a child with a congenital heart defect might give you comfort and support. Ask a member of your child's care team about local support groups.

Preparing for your appointment

Your baby is likely to be diagnosed with pulmonary atresia soon after birth while still in the hospital. Then you'll be referred to a doctor trained in heart diseases, called a cardiologist, for ongoing care.

Here's some information to help you get ready for your appointment.

What you can do

When you make the appointment, ask if there's anything you need to do before you go. For instance, you might need to fill out forms or restrict your child's diet. For some imaging tests, your child may need to not eat or drink for a time before the tests.

Take a family member or friend to the appointment, if possible. This person can help you remember the details you're given.

Make a list of:

• Your child's symptoms, including ones that don't seem linked to pulmonary atresia. Try to recall when you noticed them.
• Key personal facts, including family history of congenital heart defects, pulmonary hypertension, or other heart or lung diseases.
• All medicines, vitamins, or supplements that your child takes and the doses. Also list medicines you took while pregnant.
• Questions to ask your child's healthcare professional.

For pulmonary atresia, some questions to ask include:

• What are other possible causes for my child's symptoms or condition?
• What tests will my child need?
• What's the best treatment?
• What other treatments are there?
• Are there activities my child should not do?
• How often should my child be screened for changes?
• Can you suggest a specialist who treats congenital heart defects?
• Are there brochures or other printed material that I can have? What websites do you suggest?

Be sure to ask all the questions you have about your child's condition.

What to expect from your child's doctor

Be ready to answer questions, such as:

• Has anyone else in your family been diagnosed with pulmonary atresia or another congenital heart defect?
• Does your child always have symptoms or do the symptoms come and go?
• How bad are the symptoms?
• What, if anything, seems to make the symptoms better?
• What, if anything, seems to make the symptoms worse?