These four heart problems present at birth change how blood flows through the body. Know the symptoms and treatment.
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 is a combination of four heart changes present at birth. There is a hole in the heart called a ventricular septal defect. There also is a narrowing of the pulmonary valve or other area along the pathway between the heart and lungs. Narrowing of the pulmonary valve is called pulmonary stenosis. The body's main artery, called the aorta, is misplaced. The lower right heart chamber wall is thickened, a condition called right ventricular hypertrophy. Tetralogy of Fallot changes how blood flows through the heart and to the rest of the body.
Tetralogy of Fallot symptoms depend on how much blood flow is blocked from leaving the heart to go to the lungs. Symptoms may include:
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.
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:
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.
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:
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.
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:
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:
Another procedure or surgery may be needed to fix these complications.
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.
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:
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 to diagnose tetralogy of Fallot include:
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 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.
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.
After treatment for tetralogy of Fallot, your healthcare team may suggest some steps to keep the heart healthy. These may include:
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.
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.
If you have time to prepare for the medical visit, consider taking these steps.
For tetralogy of Fallot, some basic questions to ask your or your child's doctor include:
Don't hesitate to ask other questions.
You'll usually be asked many questions, such as: