Learn more about a rare condition caused by a combination of four heart defects that are present at birth (congenital).
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 while the baby is an infant or soon after. Sometimes, depending on the severity of the defects and symptoms, tetralogy of Fallot is not detected until adulthood.
All babies who have tetralogy of Fallot need corrective surgery. People with tetralogy of Fallot need regular doctor's checkups for the rest of their life and may have activity restrictions.
Tetralogy of Fallot is a combination of four congenital heart defects. The four defects are a ventricular septal defect (VSD), pulmonary stenosis, a misplaced aorta and a thickened right ventricular wall (right ventricular hypertrophy). They usually result in a lack of oxygen-rich blood reaching the body.
Tetralogy of Fallot symptoms vary, depending on the amount of blood flow that's blocked. Signs and symptoms may include:
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. Tet spells 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.
Seek medical help if you notice that your baby has the following signs or symptoms:
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.
Tetralogy of Fallot occurs as the baby's heart is developing during pregnancy. Usually, the cause is unknown.
Tetralogy of Fallot includes four defects:
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 problems with the coronary arteries.
While the exact cause of tetralogy of Fallot is unknown, some things might increase the risk of a baby being born with this condition. Risk factors for tetralogy of Fallot include:
A possible complication of tetralogy of Fallot is infection of the inner lining of the heart or heart valve caused by a bacterial infection (infective endocarditis). Your or your child's doctor may recommend taking antibiotics before certain dental procedures to prevent infections that might cause this infection.
People with untreated tetralogy of Fallot usually develop severe complications over time, which might result in death or disability by early adulthood.
While most babies and adults do well after open-heart surgery to repair tetralogy of Fallot defects (intracardiac repair), long-term complications are common. Complications may include:
It's very important to have regular checkups with a heart doctor trained in caring for people with congenital heart disease (pediatric cardiologist or adult congenital cardiologist).
Usually, tetralogy of Fallot is diagnosed soon after birth. Your baby's skin may appear blue. A doctor might hear an abnormal whooshing sound (heart murmur) when listening to the baby's heart with a stethoscope.
Tests to diagnose tetralogy of Fallot include:
Cardiac catheterization. Doctors may use this test to evaluate the structure of the heart and plan surgical treatment. During this procedure, the doctor inserts a thin, flexible tube (catheter) into a blood vessel, usually in the groin, and guides it to the heart.
Dye flows through the catheter to make the heart structures easier to see on X-rays. The doctor can measure pressure and oxygen levels in the heart's chambers and blood vessels during the procedure.
All babies who have tetralogy of Fallot need corrective surgery performed by a heart (cardiovascular) surgeon. Without treatment, your baby might not grow and develop properly. Your doctor will determine the most appropriate surgery and the timing of the surgery based on your or your child's condition.
Some children may need medicine while waiting for surgery to maintain blood flow from the heart to the lungs.
Surgery for tetralogy of Fallot involves open-heart surgery to correct the defects (intracardiac repair) or a temporary procedure that uses a shunt. Most babies and older children have 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.
During intracardiac repair, the surgeon will:
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 decrease.
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.
The long-term survival rates for people who've had tetralogy of Fallot surgery continue to improve.
However, sometimes blood flow to the lungs may still be restricted after tetralogy of Fallot surgery. Additional surgeries may be needed. An adult with repaired tetralogy of Fallot may have a leaky pulmonary valve (pulmonary valve regurgitation) and may need to have their pulmonary valve eventually replaced.
Heart rhythm problems (arrhythmias) are common after tetralogy of Fallot repair surgery. Your doctor may recommend medications, a procedure to treat the arrhythmias (ablation) or a special pacemaker that treats life-threatening arrhythmias (implantable cardioverter-defibrillator).
People with tetralogy of Fallot need lifelong care with a pediatric or adult congenital cardiologist to ensure the surgery's success and to monitor for complications. Checkups often include imaging tests to determine how well treatment is working.
After tetralogy of Fallot treatment, your doctor might recommend lifestyle changes and tips to help you manage your or your child's condition, including:
If you're an adult who has congenital heart disease, you might have other concerns, including:
It's natural to feel worried if you or your child are diagnosed with a congenital heart defect. Here are a few ways to help you ease stress and anxiety and best manage your or your child's condition.
You're likely to start by seeing your primary care doctor. You or your child will be referred to a doctor trained in treating heart conditions (cardiologist).
Here's some information to help you get ready for your appointment, and what to expect from 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:
Don't hesitate to ask other questions during your appointment.
Your or your child's doctor is likely to ask you a number of questions, such as:
Here are a few tips to help make your child more comfortable: