Diagnosis

Tetralogy of Fallot is often diagnosed soon after birth. Your baby's skin may look blue or gray. A whooshing sound may be heard when listening to the baby's heart with a stethoscope. This is called a heart murmur.

Tests

Tests to diagnose tetralogy of Fallot include:

  • Oxygen level measurement. A small sensor placed on a finger or toe quickly checks the amount of oxygen in the blood. This is called a pulse oximetry test.
  • Echocardiogram. This test uses sound waves to create pictures of the heart in motion. It shows the heart and heart valves and how well they are working.
  • Electrocardiogram, also called ECG or EKG. This test records the electrical activity of the heart. It shows how the heart is beating. Sticky patches called electrodes go on the chest and sometimes the arms or legs. Wires connect the patches to a computer. The computer prints or displays results. An electrocardiogram can help diagnose an irregular heartbeat. Changes in the heart signals also may be due to an enlarged heart.
  • Chest X-ray. A chest X-ray shows the shape and condition of the heart and lungs. A common sign of tetralogy of Fallot on an X-ray is a boot-shaped heart. That means the right lower chamber is too big.
  • Cardiac catheterization. This test helps to diagnose or treat certain heart conditions. It may be done to plan surgery. The doctor inserts one or more thin, flexible tubes into a blood vessel, usually in the groin. The tubes are called catheters. The doctor guides the tubes to the heart. During the test, doctors can do different heart tests or treatments.

Treatment

All babies who have tetralogy of Fallot need surgery to fix the heart and improve blood flow. A heart surgeon, called a cardiovascular surgeon, does the surgery. The timing and type of surgery depends on the baby's overall health and specific heart problems.

Some babies or young children are given medicine while waiting for surgery to keep blood flowing from the heart to the lungs.

Surgery or other procedures

Surgery used to treat tetralogy of Fallot may include:

  • Temporary surgery, also called temporary repair. Some babies with tetralogy of Fallot need a temporary surgery to improve blood flow to the lungs while waiting for open-heart surgery. This type of treatment is called palliative surgery. A surgeon places a tube called a shunt between a large artery that comes off from the aorta and the lung artery. The tube creates a new path for blood to go to the lungs. This surgery may be done if a baby is born early or if the lung arteries aren't fully developed.

    The shunt is removed during open-heart surgery to treat tetralogy of Fallot.

  • Open-heart surgery, called complete repair. People with tetralogy of Fallot need open-heart surgery to completely fix the heart.

    A complete repair is usually done in the first year of life. Rarely, a person may not have surgery in childhood if tetralogy of Fallot goes undiagnosed or if surgery is not available. These adults may still benefit from surgery.

    A complete repair is done in several steps, The surgeon patches the hole between the lower heart chambers and repairs or replaces the pulmonary valve. The surgeon may remove thickened muscle below the pulmonary valve or widen the smaller lung arteries.

After complete repair, the right lower chamber won't need to work as hard to pump blood. As a result, the right chamber wall should go back to its usual thickness. The oxygen level in the blood goes up. Symptoms typically get better.

Outlook

The long-term survival rates for people who've had tetralogy of Fallot surgery continue to improve.

People with tetralogy of Fallot need lifelong care, preferably from a healthcare team that specializes in heart diseases. The health checkups often include imaging tests to see how well the heart is working. Tests also are done to check for surgery complications.

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

After treatment for tetralogy of Fallot, your healthcare team may suggest some steps to keep the heart healthy. These may include:

  • Sports and activity restrictions. Some people born with a serious heart problem such as tetralogy of Fallot may need to limit exercise or sports activities. But many others can participate in such activities. Ask your or your child's healthcare team which sports and types of activities are safe.
  • Antibiotics to prevent heart infection. Sometimes, severe heart problems can increase the risk of infection in the lining of the heart or heart valves. This infection is called endocarditis. Antibiotics may be recommended before dental procedures, especially for people who have a mechanical heart valve. Ask your child's healthcare professional if preventive antibiotics are necessary for your child. Good oral care and regular dental checkups also are important ways to help prevent infection.

Coping and support

You may find that talking with other people who've experienced the same situation brings you comfort and encouragement. Ask your healthcare team if there are any support groups in your area.

Living with a congenital heart problem can make some people feel stressed or anxious. Talking to a therapist or counselor also may help you and your child learn new ways to manage stress and anxiety. Your care team can suggest therapists who may be helpful to you or your child.

Preparing for your appointment

Serious congenital heart problems such as tetralogy of Fallot are typically diagnosed during pregnancy or soon after birth.

If you think your child has a heart problem that wasn't noticed at birth, talk to your child's healthcare team. Be prepared to describe your child's symptoms. Ask family members if anyone was born with a heart problem, called a congenital heart defect. Some congenital heart defects may occur in families.

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

What you can do

If you have time to prepare for the medical visit, consider taking these steps.

  • Make a list of your or your baby's symptoms, including any that seem unrelated to tetralogy of Fallot.
  • Write down your or your child's family history, including details from both the mother's and father's family.
  • Note any medicines, vitamins or other supplements taken during pregnancy if possible.
  • Ask a family member or friend to come with you, if possible. Sometimes it can be difficult to remember all of the information provided to you during an appointment.
  • Write down questions to ask the healthcare team.

For tetralogy of Fallot, some basic questions to ask your or your child's doctor include:

  • What's the most likely cause of this condition?
  • Are there other possible causes of these symptoms?
  • What kinds of tests do I or my child need? Do these tests require special preparation?
  • What treatments are available, and which do you recommend?
  • What are the possible complications of treatment?
  • What is the outlook after surgery?
  • Are there any activity restrictions?
  • Will my child be able to play sports? Can my child participate in gym class?
  • Are there any brochures or other printed material that I can take home with me? What websites do you recommend?

Don't hesitate to ask other questions.

What to expect from your doctor

You'll usually be asked many questions, such as:

  • When did you first notice your child's symptoms?
  • Can you describe your child's symptoms?
  • When do these symptoms occur?
  • Do the symptoms come and go, or does your child always have them?
  • Do the symptoms seem to be getting worse?
  • Do you have a family history of congenital heart defects?
  • Does anything make your child's symptoms better?
  • Has your child been growing and meeting developmental milestones as expected? (Ask your child's pediatrician if you're not sure.)
Oct. 28, 2023

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