Diagnosis

Tests to diagnose pulmonary atresia may include:

  • X-ray. An X-ray shows the size and shape of your child's internal tissues, bones and organs. This can help your baby's doctor see the extent of your baby's pulmonary atresia.
  • Electrocardiogram (ECG). In this test, sensor patches with wires attached (electrodes) measure the electrical impulses given off by your child's heart. This test detects any abnormal heart rhythms (arrhythmias or dysrhythmias) and may show heart muscle stress.
  • Echocardiogram. In an echocardiogram, sound waves create detailed images of your child's heart. Your child's doctor usually uses an echocardiogram to diagnose pulmonary atresia. Your doctor may diagnose your baby's pulmonary atresia through an echocardiogram of your abdomen before you deliver your baby (fetal echocardiogram).
  • Cardiac catheterization. In this test, your child's doctor inserts a thin, flexible tube (catheter) into a blood vessel in your child's groin and guides it to your child's heart using X-ray imaging. This test provides detailed information about your child's heart structure and the blood pressure and oxygen levels in your child's heart, pulmonary artery and aorta. Your child's doctor may inject a special dye into the catheter to make the arteries visible under X-ray.

Treatment

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

Medications

An intravenous drug called prostaglandin will prevent closure of the natural connection (ductus arteriosus) between the pulmonary artery and the aorta. This is not a permanent solution, but it can buy your doctors enough time to determine what type of surgery or procedure might be best for your child.

Procedures via catheterization

In some cases, repairs can be made via a long, thin tube (catheter) inserted into a large vein in your baby's groin and threaded up to the heart. These procedures include:

  • Radiofrequency ablation and balloon valvotomy. If your baby's pulmonary valve features fused cusps, your doctor might apply a small amount of energy (radiofrequency ablation) or use a wire to create a small hole at the center of the valve and then use a balloon to open the cusps.
  • Balloon atrial septostomy. A balloon can also be 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. Enlarging it increases the amount of blood available to travel to the lungs.
  • Stent placement. Your baby's doctor may place a rigid tube (stent) in the natural connection between the aorta and pulmonary artery (ductus arteriosus). This opening also usually closes a few days after birth. Keeping it open allows blood to travel to the lungs.

Heart surgery

The type of surgical repair needed will depend on the size of your child's right ventricle and pulmonary artery. Babies with pulmonary atresia often require a series of heart operations over time. 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 normally 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 a Fontan 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.

Lifestyle and home remedies

If your baby is born with pulmonary atresia, it may seem that almost all your time is spent at the hospital or at a doctor's office. But there will be time spent at home, as well. Here are some tips for caring for your child at home:

  • Strive for good nutrition. Your baby may have a difficult time taking in enough calories, both because he or she tires more easily during feeding and because of an increased demand for calories. It's often helpful to give your baby frequent, small feedings.
  • Preventive antibiotics. Your child's cardiologist will likely recommend that your child take preventive antibiotics before certain dental and other procedures to prevent bacteria from entering the bloodstream and infecting the inner lining of the heart (infective endocarditis). Practicing good oral hygiene — brushing and flossing teeth, getting regular dental checkups — is another good way of preventing infection.
  • Help your child stay active. Encourage as much normal play and activity as your child is able to tolerate, with ample opportunity for rest and nap time. Staying active helps your child's heart stay fit. As your child grows, talk with the 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 he or she can't do.
  • Keep up with routine well-child care. Standard immunizations are encouraged for children with congenital heart defects, as well as vaccines against the flu, pneumonia and respiratory syncytial virus infections.
  • Keep regular follow-up appointments with your child's doctor. Your child may need regular annual appointments with his or her doctor trained in congenital heart conditions, even throughout his or her adult life.

Coping and support

It's natural for many parents to feel worried about their child's health, even after treatment of a congenital heart defect. Although many children who have congenital heart defects can do the same things children without heart defects can, here are a few things to keep in mind if your child has a congenital heart defect:

  • Developmental difficulties. Because some children who have congenital heart defects may have had a long recovery time from surgeries or procedures, they may developmentally lag behind other children their age. Some children's difficulties may last into their school years, and they may have difficulties learning to read or write, as well. Talk to your child's doctor about ways to help your child through his or her developmental difficulties.
  • Emotional difficulties. Many children who have developmental difficulties may feel insecure about their abilities and may have emotional difficulties as they reach school age. Talk to your child's doctor about ways you can help your child cope with these problems, which may include support groups for parents, or a visit to a therapist or psychologist for your child.
  • Support groups. Having a child with a serious medical problem isn't easy and, depending on the severity of the defect, may be very difficult and frightening. You may find that talking with other parents who've been through the same situation brings you comfort and encouragement. Ask your child's doctor if there are any 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 of ground to cover, 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 doctor.

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 fast 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, and avoid vague terms such as "some time ago."
  • Write down key personal information, including a family history of heart defects, pulmonary hypertension, lung disease, heart disease, stroke, high blood pressure or diabetes, and any major stresses or recent life changes.
  • Make a list of all medications, as well as any vitamins or supplements that your child is taking. Also, be sure to tell your doctor if you've recently stopped taking any medications, or if you took any medications during pregnancy.
  • Take a family member or friend along, if possible. Sometimes it can be difficult to remember all the information provided to you during an appointment. Someone who accompanies you may remember something that you missed or forgot.
  • Write down questions to ask your child's doctor.

Your time with your doctor is limited, so preparing a list of questions will help you make the most of your time together. List your questions from most important to least important in case time runs out. For pulmonary atresia, some basic questions to ask your doctor include:

  • What are other possible causes for my child's symptoms or condition?
  • What kinds of tests will my child need?
  • What's the best treatment?
  • Are there any activities my child should avoid as he or she grows up?
  • How often should my child be screened for changes in his or her condition?
  • 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 any brochures or other printed material that I can take home with me? What websites do you recommend?

In addition to the questions that you've prepared to ask your child's doctor, don't hesitate to ask other questions during your appointment if you don't understand something.

What to expect from your child's doctor

Your doctor is likely to ask you a number of questions. Being ready to answer them may reserve time to go over any points you want to spend more time on. Your child's doctor may ask:

  • Has anyone else in your family been diagnosed with pulmonary atresia or another heart defect?
  • Have your child's symptoms been continuous or occasional?
  • How severe are your child's symptoms?
  • What, if anything, seems to improve your child's symptoms?
  • What, if anything, appears to worsen your child's symptoms?

Pulmonary atresia care at Mayo Clinic

Aug. 04, 2017
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