Overview

Tetralogy of Fallot (teh-TRAL-uh-jee of fuh-LOW) is a rare heart condition that is present at birth. That means it's a congenital heart defect. A baby born with the condition has four different heart problems.

These heart problems affect the structure of the heart. The condition causes altered blood flow through the heart and to the rest of the body. Babies with tetralogy of Fallot often have blue or gray skin color due to low oxygen levels.

Tetralogy of Fallot is usually diagnosed during pregnancy or soon after a baby is born. If the heart changes and symptoms are mild, tetralogy of Fallot may not be noticed or diagnosed until adulthood.

People who are diagnosed with tetralogy of Fallot need surgery to fix the heart. They will need regular health checkups for life.

Tetralogy of Fallot

Joseph Dearani, M.D., Chair, Cardiovascular Surgery, Mayo Clinic: My name is Joseph Dearani, and I'm the chair of Cardiovascular Surgery at the Mayo Clinic in Rochester, Minnesota, and my area of expertise is in pediatric and congenital heart disease. Today we are going to talk about tetralogy of Fallot, which is one of the most common congenital heart defects. In many ways, this lesion is viewed as the benchmark against which other treatment strategies for congenital heart defects are compared. There is no other lesion that offers the breadth of treatment history, and modifications to further improve results, that continue to the present day.

The optimum treatment approach remains controversial, but in general, complete repair is advised in the first three to six months of life. Importantly, the application of the modified Blalock–Taussig shunt as a palliative procedure is performed much less commonly in the current era. The surgical goal is complete repair, which consists of ventricular septal defect closure and relief of right ventricular outflow tract obstruction, which is ideally performed with preservation of pulmonary valve function. The most common congenital heart operation performed in adulthood is pulmonary valve replacement following tetralogy of Fallot repair in infancy or childhood.

There are two standard approaches for complete repair. The first is the transatrial-transpulmonary approach and the second is the transventricular approach. The transatrial-transpulmonary approach has the distinct advantage of preserving pulmonary valve function but may be better approached, and a little bit easier, beyond four months of age. Selective use of a small infundibular incision may be helpful to completely relieve right ventricular outflow tract obstruction and/or improve visualization of the ventricular septal defect in some situations. A concerted effort is made to stay below the pulmonary annulus, and preserve the pulmonary valve when this is performed, particularly if the size of the pulmonary valve annulus is acceptable, thus requiring pulmonary valvotomy alone. The transventricular approach can be applied at any age. While it has stood the test of time, we have learned that many patients ultimately require pulmonary valve replacement later on in life because of pulmonary regurgitation. Consequently, if the transventricular approach is being applied, extensive transannular patching is avoided in order to minimize late right ventricular dilatation and right ventricular dysfunction, severe pulmonary regurgitation, and avoiding ventricular arrhythmias. While it is important to adequately relieve right ventricular outflow tract obstruction, leaving some residual obstruction behind is considered acceptable, particularly if preservation and function of the pulmonary valve can be maintained. In general, a residual gradient of 20 to 30 millimeters of mercury across the pulmonary valve is usually well tolerated and permissible.

The presence of an anomalous left anterior descending coronary artery is usually not a contraindication to complete repair in the current era. A short transannular incision can be performed that avoids the anomalous left anterior descending coronary artery and can be utilized to further relieve right ventricular outflow tract obstruction, if needed. The decision to close the patent foramen ovale is largely determined by patient age and whether a transannular repair was applied. In general, the patent foramen ovale is left open when complete repair is performed in the neonate or when a transannular repair has been performed and severe pulmonary regurgitation is present. The application of a monocusp repair to improve competence of the pulmonary valve can be helpful in this situation and can smooth out the early post-operative period.

In the modern era, repair of tetrology of Fallot can be performed with very low mortality, in the neighborhood of 1%, and the late survival and quality of life are excellent for the majority of patients. In general, children attend school and can participate in most childhood sport activities without restrictions. Early repair in the first six months of life is the rule, and preservation of the pulmonary valve and minimizing pulmonary regurgitation is the goal. The need for diligent lifelong surveillance cannot be overemphasized, so that proper timing of any potential subsequent interventions can be optimized.

Mayo Clinic has a long-standing history in the surgical care of tetrology of Fallot since the earliest days of cardiac surgery in the mid 1950s. The number of patients in our practice that have undergone complete repair, or palliative procedures, or re-operations later on in life, in childhood and adulthood, with tetrology of Fallot are now in the thousands. Thank you very much for listening on tetrology of Fallot.

Symptoms

Tetralogy of Fallot symptoms depend on how much blood flow is blocked from leaving the heart to go to the lungs. Symptoms may include:

  • Blue or gray skin color.
  • Shortness of breath and rapid breathing, especially during feeding or exercise.
  • Trouble gaining weight.
  • Getting tired easily during play or exercise.
  • Irritability.
  • Crying for long periods of time.
  • Fainting.

Tet spells

Some babies with tetralogy of Fallot suddenly develop deep blue or gray skin, nails, and lips. This usually happens when the baby cries, eats or is upset. These episodes are called tet spells.

Tet spells are caused by a rapid drop in the amount of oxygen in the blood. They are most common in young infants, around 2 to 4 months old. Tet spells may be less noticeable in toddlers and older children. That's because they typically squat when they're short of breath. Squatting sends more blood to the lungs.

When to see a doctor

Serious congenital heart defects are often diagnosed before or soon after your child is born. Seek medical help if you notice that your baby has these symptoms:

  • Trouble breathing.
  • Bluish color of the skin.
  • Lack of alertness.
  • Seizures.
  • Weakness.
  • More irritable than usual.

If your baby becomes blue or gray, place your baby on the side and pull the baby's knees up to the chest. This helps increase blood flow to the lungs. Call 911 or your local emergency number immediately.

Causes

Tetralogy of Fallot occurs as the baby's heart grows during pregnancy. Usually, the cause is unknown.

Tetralogy of Fallot includes four problems with heart structure:

  • Narrowing of the valve between the heart and the lungs, called pulmonary valve stenosis. This condition reduces blood flow from the heart to the lungs. The narrowing may just involve the valve. Or it could happen in more than one place along the pathway between the heart and lungs. Sometimes the valve isn't formed. Instead, a solid sheet of tissue blocks blood flow from the right side of the heart. This is called pulmonary atresia.
  • A hole between the bottom heart chambers, called a ventricular septal defect. A ventricular septal defect changes how blood flows through the heart and lungs. Oxygen-poor blood in the lower right chamber mixes with oxygen-rich blood in the lower left chamber. The heart has to work harder to pump blood through the body. The problem may weaken the heart over time.
  • Shifting of the body's main artery. The body's main artery is called the aorta. It's usually attached to the left lower heart chamber. In tetralogy of Fallot, the aorta is in the wrong place. It's shifted to the right and sits directly above the hole in the heart wall. This changes how blood flows from the aorta to the lungs.
  • Thickening of the right lower chamber of the heart, called right ventricular hypertrophy. When the heart has to work too hard, the wall of the right lower heart chamber gets thick. Over time, this may cause the heart to become weak and eventually fail.

Some people with tetralogy of Fallot have other problems that affect the aorta or heart arteries. There also may be a hole between the heart's upper chambers, called atrial septal defect.

Risk factors

The exact cause of tetralogy of Fallot is unknown. Some things may increase the risk of a baby being born with tetralogy of Fallot. Risk factors include:

  • Family history.
  • Having a virus during pregnancy. This includes rubella, also known as German measles.
  • Drinking alcohol during pregnancy.
  • Eating poorly during pregnancy.
  • Smoking during pregnancy.
  • Mother's age older than 35.
  • Down syndrome or DiGeorge syndrome in the baby.

Complications

Untreated tetralogy of Fallot usually leads to life-threatening complications. The complications may cause disability or death by early adulthood.

A possible complication of tetralogy of Fallot is infection of the inner lining of the heart or heart valves. This is called infective endocarditis. Sometimes antibiotics are given before dental work to prevent this type of infection. Ask your healthcare team if preventive antibiotics are right for you or your baby.

Complications also are possible after surgery to repair tetralogy of Fallot. But most people do well after such surgery. When complications occur, they may include:

  • Backward flow of blood through a heart valve.
  • Irregular heartbeats.
  • A hole in the heart that doesn't go away after surgery.
  • Changes in the size of the heart chambers.
  • Swelling of part of the aorta, called aortic root dilation.
  • Sudden cardiac death.

Another procedure or surgery may be needed to fix these complications.

Congenital heart defects and pregnancy

People born with a complex congenital heart defect may be at risk for complications during pregnancy. Talk to your healthcare team about the possible risks and complications of pregnancy. Together you can discuss and plan for any special care needed.

Prevention

Because the exact cause of most congenital heart defects is unknown, it may not be possible to prevent these conditions. If you have a high risk of giving birth to a child with a congenital heart defect, genetic testing and screening may be done during pregnancy.

There are some steps you can take to help reduce your child's overall risk of birth defects, such as:

  • Get proper prenatal care. Regular checkups with a healthcare team during pregnancy can help keep mom and baby healthy.
  • Take a multivitamin with folic acid. Taking 400 micrograms of folic acid daily has been shown to reduce birth defects in the brain and spinal cord. It may help reduce the risk of heart defects as well.
  • Don't drink or smoke. These lifestyle habits can harm a baby's health. Also avoid secondhand smoke.
  • Get a rubella (German measles) vaccine. A rubella infection during pregnancy may affect a baby's heart development. Get vaccinated before trying to get pregnant.
  • Control blood sugar. If you have diabetes, good control of your blood sugar can reduce the risk of congenital heart defects.
  • Manage chronic health conditions. If you have other health conditions, including phenylketonuria, talk to your healthcare team about the best way to treat and manage them.
  • Avoid harmful substances. During pregnancy, have someone else do any painting and cleaning with strong-smelling products.
  • Check with your healthcare team before taking any medications. Some medications can cause birth defects. Tell your healthcare team about all the medications you take, including those bought without a prescription.

Oct. 28, 2023

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