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Tetralogy of Fallot

Overview

Tetralogy of Fallot (teh-TRAL-uh-jee of fuh-LOW) is a rare condition caused by a combination of four heart defects that are present at birth (congenital).

These defects, which affect the structure of the heart, cause oxygen-poor blood to flow out of the heart and to the rest of the body. Infants and children with tetralogy of Fallot usually have blue-tinged skin because their blood doesn't carry enough oxygen.

Tetralogy of Fallot is often diagnosed during infancy or soon after. However, tetralogy of Fallot might not be detected until later in life in some adults, depending on the severity of the defects and symptoms.

With early diagnosis followed by appropriate surgical treatment, most children and adults who have tetralogy of Fallot live relatively normal lives, though they'll need regular medical care throughout life and might have restrictions on exercise.

Tetralogy of Fallot

Tetralogy of Fallot is a combination of four congenital abnormalities. The four defects include a ventricular septal defect (VSD), pulmonary valve stenosis, a misplaced aorta and a thickened right ventricular wall (right ventricular hypertrophy). They usually result in an insufficient amount of oxygenated blood reaching the body.

Symptoms

Tetralogy of Fallot symptoms vary, depending on the extent of obstruction of blood flow out of the right ventricle and into the lungs. Signs and symptoms may include:

  • A bluish coloration of the skin caused by blood low in oxygen (cyanosis)
  • Shortness of breath and rapid breathing, especially during feeding or exercise
  • Loss of consciousness (fainting)
  • Clubbing of fingers and toes — an abnormal, rounded shape of the nail bed
  • Poor weight gain
  • Tiring easily during play or exercise
  • Irritability
  • Prolonged crying
  • A heart murmur

Tet spells

Sometimes, babies who have tetralogy of Fallot will suddenly develop deep blue skin, nails and lips after crying or feeding, or when agitated.

These episodes are called tet spells and are caused by a rapid drop in the amount of oxygen in the blood. Tet spells are most common in young infants, around 2 to 4 months old. Toddlers or older children might instinctively squat when they're short of breath. Squatting increases blood flow to the lungs.

When to see a doctor

Seek medical help if you notice that your baby has the following symptoms:

  • Difficulty breathing
  • Bluish discoloration of the skin
  • Passing out or seizures
  • Weakness
  • Unusual irritability

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

Causes

Tetralogy of Fallot occurs during fetal growth, when the baby's heart is developing. While factors such as poor maternal nutrition, viral illness or genetic disorders might increase the risk of this condition, in most cases the cause of tetralogy of Fallot is unknown.

The four abnormalities that make up the tetralogy of Fallot include:

  • Pulmonary valve stenosis. Pulmonary valve stenosis is a narrowing of the pulmonary valve — the valve that separates the lower right chamber of the heart (right ventricle) from the main blood vessel leading to the lungs (pulmonary artery).

    Narrowing (constriction) of the pulmonary valve reduces blood flow to the lungs. The narrowing might also affect the muscle beneath the pulmonary valve. In some severe cases, the pulmonary valve doesn't form properly (pulmonary atresia) and causes reduced blood flow to the lungs.

  • Ventricular septal defect. A ventricular septal defect is a hole (defect) in the wall (septum) that separates the two lower chambers of the heart — the left and right ventricles. The hole allows deoxygenated blood in the right ventricle — blood that has circulated through the body and is returning to the lungs to replenish its oxygen supply — to flow into the left ventricle and mix with oxygenated blood fresh from the lungs.

    Blood from the left ventricle also flows back to the right ventricle in an inefficient manner. This ability for blood to flow through the ventricular septal defect reduces the supply of oxygenated blood to the body and eventually can weaken the heart.

  • Overriding aorta. Normally the aorta — the main artery leading out to the body — branches off the left ventricle. In tetralogy of Fallot, the aorta is shifted slightly to the right and lies directly above the ventricular septal defect.

    In this position the aorta receives blood from both the right and left ventricles, mixing the oxygen-poor blood from the right ventricle with the oxygen-rich blood from the left ventricle.

  • Right ventricular hypertrophy. When the heart's pumping action is overworked, it causes the muscular wall of the right ventricle to thicken. Over time this might cause the heart to stiffen, become weak and eventually fail.

Some children or adults who have tetralogy of Fallot may have other heart defects, such as a hole between the heart's upper chambers (atrial septal defect), a right aortic arch or abnormalities of the coronary arteries.

Risk factors

While the exact cause of tetralogy of Fallot is unknown, various factors might increase the risk of a baby being born with this condition. These risk factors include:

  • A viral illness during pregnancy, such as rubella (German measles)
  • Alcoholism during pregnancy
  • Poor nutrition during pregnancy
  • A mother older than age 40
  • A parent who has tetralogy of Fallot
  • The presence of Down syndrome or DiGeorge syndrome

Complications

All babies who have tetralogy of Fallot need corrective surgery. Without treatment, your baby might not grow and develop properly.

Your baby may also be at an increased risk of serious complications, such as infective endocarditis — an infection of the inner lining of the heart or heart valve caused by a bacterial infection.

Untreated cases of tetralogy of Fallot usually develop severe complications over time, which might result in death or disability by early adulthood.

Diagnosis

Your or your baby's doctor might suspect tetralogy of Fallot if he or she notices you or your baby has blue-tinged skin or a heart murmur — an abnormal whooshing sound caused by turbulent blood flow. Your or your baby's cardiologist will conduct a physical examination and use several tests to confirm the diagnosis.

Tests may include:

  • Echocardiography. Echocardiograms use high-pitched sound waves to produce an image of the heart. Sound waves bounce off the heart and produce moving images that can be viewed on a video screen.

    This test is generally used to diagnose tetralogy of Fallot. It allows your or your baby's doctor to determine if there is a ventricular septal defect and where it's located, if the structure of the pulmonary valve and pulmonary artery is normal, if the right ventricle is functioning properly, if the aorta is positioned properly, and if there are any other heart defects. This test can also help your or your baby's doctor to plan treatment for the condition.

  • Electrocardiogram. An electrocardiogram records the electrical activity in the heart each time it contracts. During this procedure, patches with wires (electrodes) are placed on your or your baby's chest, wrists and ankles. The electrodes measure electrical activity, which is recorded on paper.

    This test helps determine if the right ventricle is enlarged (right ventricular hypertrophy), if the right atrium is enlarged and if the heart rhythm is regular.

  • Chest X-ray. A chest X-ray can show the structure of the heart and lungs. A common sign of tetralogy of Fallot on an X-ray is a "boot-shaped" heart, because the right ventricle is enlarged.
  • Oxygen level measurement (pulse oximetry). This test uses a small sensor that can be placed on a finger or toe to measure the amount of oxygen in the blood.
  • Cardiac catheterization. Doctors may use this test to evaluate the structure of the heart and plan surgical treatment. During this procedure, your or your baby's doctor inserts a thin, flexible tube (catheter) into an artery or vein in the arm, groin or neck and threads it up to the heart.

    Your or your baby's doctor injects a dye through the catheter to make the heart structures visible on X-ray pictures. Cardiac catheterization also measures pressure and oxygen levels in the chambers of the heart and in the blood vessels.

Treatment

Surgery is the only effective treatment for tetralogy of Fallot. Surgical options include intracardiac repair or a temporary procedure that uses a shunt. However, most babies and older children have intracardiac repair.

Your or your child's doctors will determine the most appropriate surgery and the timing of the surgery based on your or your child's condition.

In some cases your child may need medicine to keep the opening between two large blood vessels in the heart open. This can help to maintain blood flow from the heart to the lungs before intracardiac repair.

Intracardiac repair

This open-heart surgery is usually done during the first year after birth and involves several repairs. Adults with tetralogy of Fallot rarely may undergo this procedure if they didn't have surgical repair as children.

The surgeon places a patch over the ventricular septal defect to close the hole between the lower chambers of the heart (ventricles).

He or she also repairs or replaces the narrowed pulmonary valve and widens the pulmonary arteries to increase blood flow to the lungs.

Because the right ventricle won't need to work as hard to pump blood after this procedure, the right ventricle wall will go back to its normal thickness. After intracardiac repair, the oxygen level in the blood increases and symptoms will lessen.

Temporary surgery

Occasionally babies need to undergo a temporary (palliative) surgery before having intracardiac repair in order to improve blood flow to the lungs. This procedure may be done if your baby was born prematurely or has pulmonary arteries that are undeveloped (hypoplastic).

In this procedure, the surgeon creates a bypass (shunt) between a large artery that branches off from the aorta and the pulmonary artery.

When your baby is ready for intracardiac repair, the surgeon removes the shunt during the procedure for intracardiac repair.

After surgery

While most babies and adults do well after intracardiac repair, long-term complications are common. Complications may include:

  • Chronic pulmonary regurgitation, in which blood leaks through the pulmonary valve back into the pumping chamber (right ventricle)
  • Other heart valve problems, such as blood leaking back through the tricuspid valve
  • Holes in the wall between the ventricles (ventricular septal defects) that may continue to leak after repair or may need re-repair
  • Enlarged right ventricle or left ventricle that isn't working properly
  • Irregular heartbeats (arrhythmias)
  • Coronary artery disease
  • Aortic root dilation, in which the ascending aorta enlarges
  • Sudden cardiac death

Complications can continue throughout childhood, adolescence and adulthood for people with tetralogy of Fallot. Most adults with repaired tetralogy of Fallot may require another procedure or intervention during their lifetimes. It's very important to have regular follow-up with a cardiologist trained in caring for people with congenital heart disease (pediatric cardiologist or adult congenital cardiologist) who can evaluate you and determine the appropriate timing of another intervention or procedure.

Sometimes blood flow to the lungs may still be restricted after intracardiac repair. Infants, children or adults with these complications might require additional surgeries. More commonly, there is leakage through the repaired pulmonary valve. Most adults with repaired tetralogy of Fallot may have pulmonary valve leakage (regurgitation) and may need to have the pulmonary valve replaced during their lifetimes. Your cardiologist will determine the most appropriate timing for this procedure.

Arrhythmias are common after repair and may be treated with medications, a procedure to treat the arrhythmias (ablation) or a special pacemaker device that treats life-threatening heart rhythms (implantable cardioverter-defibrillator).

In addition, as with any surgery, there's a risk of infection, unexpected bleeding or blood clots.

Ongoing care

After surgery you or your child will need lifelong care with a cardiologist trained in treating congenital heart disease (adult congenital cardiologist or pediatric cardiologist), including routine follow-up appointments to make sure that the initial operation or procedure was successful and to monitor for any new complications.

Your or your child's doctor may conduct a physical examination and order tests in regular follow-up appointments to evaluate and monitor your or your child's condition.

The doctor might also recommend that you or your child limit strenuous physical activity, particularly if there's any pulmonary valve leakage or obstruction, or arrhythmias.

Sometimes, antibiotics are recommended during dental procedures to prevent infections that might cause endocarditis — an inflammation of the lining of the heart. Antibiotics are especially important for those who have had prior endocarditis, have artificial valves or have had repair with prosthetic material. Ask the doctor what's right for you or your child.

Preparing for an appointment

You're likely to start by seeing your family doctor or a general practitioner. However, you'll then be referred to a doctor trained in treating heart conditions (cardiologist). Your child will often be referred to a doctor trained in treating children with heart conditions (pediatric cardiologist).

Here's some information to help you get ready for your appointment, and what to expect from your or your child's doctor.

What you can do

  • Be aware of any pre-appointment restrictions. When you make the appointment, ask if there's anything you need to do in advance, such as restrict your or your child's diet.
  • Write down any symptoms your or your baby is experiencing, including any that might seem unrelated to the reason for which you scheduled the appointment.
  • Write down your or your child's family history, including details from both the maternal and paternal sides of the family.
  • 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. Additionally, learning that you or your baby has a heart defect is upsetting news, which might make it harder for you to remember what the doctor says afterward. Someone who accompanies you might help you remember the doctor's recommendations.
  • Write down questions to ask your or your child's doctor.

Preparing a list of questions can help you make the most of your appointment time. For tetralogy of Fallot, some basic questions to ask your or your child's doctor include:

  • What's the most likely cause of my or my child's symptoms?
  • 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 surgery or intervention?
  • What's my or my child's prognosis after surgery? Can I or my child live a normal life?
  • My child or I have other health conditions. How can I best manage them together?
  • Are there any activity restrictions that I or my child will need to follow?
  • Will I or my child be able to play sports? Can my child participate in gym?
  • Why did this happen?
  • Will this cause a problem during future pregnancies, and is there any way to prevent it? Is there a risk my tetralogy of Fallot can cause a problem to my future child or children?
  • 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 ahead of time, don't hesitate to ask other questions during your appointment.

What to expect from your doctor

Your or your child's doctor is likely to ask you a number of questions, such as:

  • When did you first notice your or your child's symptoms?
  • Have your or your child's symptoms been continuous, or occasional?
  • Does anything seem to improve your or your child's symptoms?
  • What, if anything, appears to worsen your or your child's symptoms?
  • How are you or your child eating and sleeping?
  • Have you noticed fainting spells or episodes when your or your child's lips and skin become more blue or dusky?
  • Are you or your child vomiting or losing weight?
  • Have you or your child had heart racing, breathlessness or leg swelling?

What you can do in the meantime

While you're waiting for the doctor's appointment and for treatments, here are a few tips to help make your child more comfortable:

  • Feed your baby slowly. Try smaller, more frequent meals.
  • Help your child during a tet spell. Your child's skin, nails and lips might turn blue after crying, feeding or waking up. If you can remain calm, it can help reduce your child's anxiety. Improve circulation to your child's heart and lungs by gently raising his or her knees to the chest.
  • In case of emergency call 911 or go to an emergency department.

Lifestyle and home remedies

After treatment, you might have some concerns about how best to manage your or your child's condition, including:

  • Preventing infection. A child, adolescent or adult who has severe heart defects might need to take preventive antibiotics before certain dental and surgical procedures. Your or your child's doctor can tell you if this is necessary. Maintaining good oral hygiene and getting regular dental checkups are excellent ways to help prevent infection.
  • Exercising. Parents of children or adolescents with congenital heart defects or adults who have congenital heart defects often worry about the risks of vigorous activity even after successful treatment.

    Although some children, adolescents or adults might need to limit the amount or type of exercise, many can lead normal or near-normal lives. Decisions about exercise need to be made on a case-by-case basis, so ask your or your child's doctor which activities are safe for you or your child.

If you're an adult who has congenital heart disease, you might have concerns, such as:

  • Employment. Having a congenital heart defect generally won't limit your career options. If you have serious heart rhythm problems or the potential for life-threatening complications, evaluation by a specialty team is needed to determine risk, provide therapy and counsel people regarding employment.
  • Pregnancy. Most women who have congenital heart disease tolerate pregnancy without any problems. However, a severe heart defect or complications such as arrhythmias can increase the risk of complications during pregnancy.

    If you have congenital heart disease, discuss family planning with your doctor. Your doctor may recommend that you be seen by a doctor trained in congenital heart disease before pregnancy and that you receive care during your pregnancy from doctors trained in congenital heart disease, genetics and high-risk obstetric care. Some heart medications aren't safe during pregnancy and might need to be stopped or adjusted before you become pregnant.

Coping and support

It can be extremely frightening to learn that you or your child has potentially life-threatening heart defects. Although support groups aren't for everyone, talking to other adults with congenital heart disease or to other parents — especially those whose children have already gone through corrective surgery — can give you hope, encouragement and support. Ask your or your child's doctor if there are any support groups for parents of children with heart defects or adults with congenital heart disease in your area.

If your child has a heart defect, be sure to give yourself a break at times. Ask other family members or friends to help take care of your child. When your child is in the hospital, see if you can schedule friends and family to visit with your child so that you can go home to take a shower or nap, or to spend time with your other children.

To help coordinate your or your child's care, you might prepare a brief note with your or your child's diagnosis, medications, surgeries and dates, and the cardiologist's name and number. This note will provide necessary information to others who might care for your child and will help any new doctor understand your or your child's health history.

If you change health insurance plans, be sure your new plan will cover your or your child's care. Some plans might not allow coverage for pre-existing conditions or might require a waiting period.

Last updated: August 26th, 2017

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