Pulmonary Atresia

Pulmonary atresia with ventricular septal defect

Pulmonary atresia (uh-TREE-zhuh) with ventricular septal defect (VSD) is a heart problem present at birth (congenital heart defect).

In this pulmonary atresia, the valve between the heart and lungs (pulmonary valve) is not fully developed. Blood can't flow from the right lower heart chamber (right ventricle) to the lungs. In pulmonary atresia with ventricular septal defect (VSD), there's also a hole between the two pumping chambers of the heart.

The VSD allows blood to flow into and out of the baby's right ventricle. Some blood may also flow through a natural opening called the ductus arteriosis. The ductus arteriosus typically closes soon after birth, but it can be kept open with medications.

The lung artery and its branches can be very small or nonexistent in babies with pulmonary atresia. If these blood vessels are missing, other arteries form on the body's main artery (aorta) to provide blood flow to the lungs. These arteries are called major aortopulmonary collateral arteries (MAPCAs).

Pulmonary atresia with ventricular septal defect is a life-threatening condition. A baby with pulmonary atresia doesn't get enough oxygen. Medications and one or more procedures or surgeries are needed to help the heart work better and repair the congenital heart defects.

Diagnosis

Pulmonary atresia with ventricular septal defect is typically diagnosed at birth or soon after. Tests that may be used to diagnose pulmonary atresia with ventricular septal defect include:

• Pulse oximetry. A small sensor attached to a hand or foot measures the amount of oxygen in the blood. Pulse oximetry is simple and painless.
• Chest X-ray. A chest X-ray shows the shape and size of the heart and lungs.
• Echocardiogram. Sound waves are used to create images of the beating heart. An echocardiogram of the mother's belly before delivery (fetal echocardiogram) can be used to diagnose pulmonary atresia.
• Electrocardiogram (ECG or EKG). This quick and simple test measures the electrical activity of the heart. Sticky patches (electrodes) with sensors detect the heartbeat. A monitor connected to the wires prints or displays results. An ECG can show how fast or slow the heart is beating. It can help diagnose irregular heart rhythms (arrhythmias).
• Cardiac catheterization. A heart doctor (cardiologist) threads a thin tube (catheter) through a blood vessel in the arm or groin to an artery in the heart and injects dye through the catheter. This makes the heart arteries show up more clearly on an X-ray.
• Cardiac CT scan. This test uses a series of X-rays to create pictures of the heart and blood vessels. It can help reveal the shape of the heart and lungs and determine if major aortopulmonary collateral arteries (MAPCAs) are present. Knowing about the MAPCAs is important for planning treatment.

Treatment

Babies with pulmonary atresia with ventricular septal defect need immediate treatment. Treatment may include medications and one or more surgeries or procedures.

Surgeries or other procedures

A baby with pulmonary atresia with ventricular septal defect (VSD) typically needs one or more surgeries or procedures to improve blood flow and heart function. Treatment depends on the structure of the pulmonary arteries and whether or not there are major aortopulmonary collateral arteries (MAPCAs).

Surgeries or other procedures to treat pulmonary atresia with ventricular septal defect may include:

• Catheter procedures for the pulmonary artery branches. This procedure is done to look at the baby's heart and possibly reconstruct the blood vessels coming off the pulmonary artery. A balloon on the tip of the catheter may be used to widen any narrowed areas. A rigid tube (stent) may be placed in a vessel between the aorta and pulmonary artery (ductus arteriosus) to keep it open and let blood flow into the lungs.
• Systemic-to-pulmonary artery shunt. This surgery may be needed in the first few days of life to increase blood flow to the lungs. It creates a connection (shunt) for blood to flow using a small synthetic tube. An example is the Blalock-Taussig shunt (BT shunt).
• Neonatal complete repair. If a baby's heart has well-developed pulmonary arteries and no MAPCAs, a surgeon can perform a complete repair at one time during the first 4 weeks of life. During the complete repair surgery, the ventricular septal defect is closed and a tube with an artificial valve is placed between the right lower heart chamber (ventricle) and the pulmonary artery.
• One-stage complete repair. Also called unifocalization, this procedure is done to connect all the MAPCAs together to create new pulmonary arteries. The surgeon then completes the repair with closure of the VSD. A tube graft (with or without a valve) is used to make a connection between the right lower heart chamber and the pulmonary artery. This procedure is usually done between 4 and 6 months of age.
• Staged unifocalization. If the MAPCAs are small or have multiple areas of narrowing, surgery to connect them may be done in stages. This allows the arteries to grow before the complete repair. A small shunt from the aorta to the newly created pulmonary arteries allows the blood to flow to the lungs. After a few months, cardiac imaging tests are done to determine whether the baby is ready for the complete repair.

Babies with pulmonary atresia with ventricular septal defect (VSD) need regular checkups by a cardiologist with training in pediatric congenital heart disease.

Diagnosis

Tests to diagnose pulmonary atresia may include:

• Chest X-ray. A chest X-ray shows the size and shape of the heart and lungs. This can help the baby's health care provider see the extent of your baby's pulmonary atresia.
• Electrocardiogram (ECG or EKG). This quick and painless test measures the electrical activity of the heart. Sticky patches (electrodes) are placed on the chest and sometimes the arms and legs. Wires connect the electrodes to a computer, which displays the test results. This test detects irregular heart rhythms (arrhythmias) and may show heart muscle stress.
• Echocardiogram. In this test, sound waves are used to create pictures of the heart in motion. An echocardiogram is usually the main test used to diagnose pulmonary atresia. An echocardiogram done during pregnancy (fetal echocardiogram) can help diagnose this condition before birth.
• Cardiac catheterization. A health care provider threads a thin tube (catheter) through a blood vessel in the arm or groin to an artery in the heart and injects dye through the catheter. This makes the heart arteries show up more clearly on an X-ray.

Treatment

A baby will need urgent medical attention once pulmonary atresia symptoms develop. The choice of surgeries or procedures depends on the severity of the child's condition.

Medications

Medication may be given through an IV to help prevent the closure of the natural connection (ductus arteriosus) between the pulmonary artery and the aorta. This is not a permanent treatment for pulmonary atresia, but it gives health care providers more time to determine what type of surgery or procedure might be best for the child.

Surgery or other procedures

Sometimes, pulmonary atresia repairs can be done using a long, thin tube (catheter) inserted into a large vein in a baby's groin and threaded up to the heart. Catheter-based procedures for pulmonary atresia include:

• Balloon atrial septostomy. A balloon is used to enlarge the natural hole (foramen ovale) in the wall between the upper two chambers of the heart. This hole usually closes shortly after birth. Making the hole larger increases the amount of blood available to travel to the lungs.
• Stent placement. A health care provider may place a rigid tube (stent) in the natural connection between the aorta and pulmonary artery (ductus arteriosus). This opening also usually closes soon after birth. Keeping it open allows blood to travel to the lungs.

Babies with pulmonary atresia often require a series of heart surgeries over time. The type of heart surgery needed will depend on the size of the child's right ventricle and pulmonary artery. Some examples include:

• Shunting. Creating a bypass (shunt) from the main blood vessel leading out of the heart (aorta) to the pulmonary arteries allows for adequate blood flow to the lungs. However, babies usually outgrow this shunt within a few months.
• Glenn procedure. In this surgery, one of the large veins that returns blood to the heart is connected directly to the pulmonary artery instead. Another large vein continues to provide blood to the right side of the heart, which pumps it through the surgically repaired pulmonary valve. This can help the right ventricle grow larger.
• Fontan procedure. If the right ventricle remains too small to be useful, surgeons may use this procedure to create a pathway that allows most, if not all, of the blood coming to the heart to flow directly into the pulmonary artery.
• Heart transplant. In some cases, the heart is too damaged to repair and a heart transplant may be necessary.

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 your child after coming home from the hospital:

• Keep regular follow-up appointments with your child's health care provider. Your child will likely need regular appointments with a doctor trained in congenital heart disease. These appointments need to continue even after your child is an adult. Ask how frequently your child needs to be seen.

• Help your child stay active. Encourage as much play and activity as your child is able to tolerate, with plenty of time for rest and nap time. Staying active helps a child's heart stay fit.

  As your child grows, talk with a heart doctor (cardiologist) about which activities are best for your child. If some are off-limits, such as competitive sports, encourage your child in other pursuits rather than focusing on what can't be done.

• Keep up with routine well-child care. Get recommended vaccines.
• Preventive antibiotics. Your child's cardiologist may recommend that your child take antibiotics before certain dental and other procedures to prevent bacteria from entering the bloodstream and infecting the inner lining of the heart (infective endocarditis).
• Practice good oral hygiene. Brushing and flossing teeth and getting regular dental checkups can help prevent infection.

Coping and support

Talking with other parents who've been through a similar situation may bring comfort and encouragement. Ask your child's health care provider about local support groups.

Preparing for your appointment

It's most likely that your child would be diagnosed with pulmonary atresia soon after birth while still in the hospital. If your child is diagnosed with pulmonary atresia, you'll be referred to a heart specialist (cardiologist) for ongoing care.

Because appointments can be brief, and because there's often a lot to discuss, it's a good idea to be prepared for your appointment. Here's some information to help you get ready for your appointment, and what to expect from your health care provider.

What you can do

• Be aware of any pre-appointment restrictions. At the time you make the appointment, be sure to ask if there's anything you need to do in advance, such as fill out forms or restrict your child's diet. For some imaging tests, for example, your child may need to avoid food or drinks for a period of time beforehand.
• Write down any symptoms your child has, including any that may seem unrelated to pulmonary atresia. Try to recall when they began. Be specific, such as days, weeks, months.
• Write down key personal information, including any family history of congenital heart defects, pulmonary hypertension, or other heart or lung diseases. Also note any major stresses or recent life changes.
• Make a list of all medications that your child is taking, and the doses. Include vitamins and supplements. Also, tell the health care provider about any medications taken during pregnancy.
• Take a family member or friend along, if possible. Sometimes it can be difficult to remember all the information received during an appointment. Someone who goes with you may remember something that you missed or forgot.
• Write down questions to ask your child's health care provider.

For pulmonary atresia, some basic questions to ask your child's health care provider include:

• What are other possible causes for my child's symptoms or condition?
• What tests will my child need?
• What's the best treatment?
• Are there any activities my child should avoid?
• How often should my child be screened for changes?
• What are the alternatives to the primary approach that you're suggesting?
• Could you recommend a specialist who has experience treating congenital heart defects?
• Is there a generic alternative to the medicine you're prescribing?
• Are there brochures or other printed material that I can have? What websites do you recommend?

Don't hesitate to ask other questions.

What to expect from your child's doctor

Your child's health care provider might ask:

• Has anyone else in your family been diagnosed with pulmonary atresia or another congenital heart defect?
• Does the child always have symptoms or do the symptoms come and go?
• How severe are the child's symptoms?
• What, if anything, seems to improve the symptoms?
• What, if anything, appears to worsen the symptoms?