tetralogy of Fallot
Figure A shows the normal anatomy and blood flow of the interior of the heart. Figure B shows a heart with the four defects of tetralogy of Fallot.
Tetralogy of Fallot is a serious and complex heart defect that is present at birth. A baby's heart begins to form shortly after conception and is complete by the end of the second month of pregnancy. During this time, tetralogy of Fallot can occur. Tetralogy of Fallot involves four specific defects in the development of different parts of the heart:
These defects can cause:
Each year in the United States, about 3,000 babies are born with tetralogy of Fallot. It is the congenital heart defect that causes the most cases of cyanosis.
Every infant or child with tetralogy of Fallot needs surgery, usually within the first year of life. Because of advances in surgery and treatment, many children born with tetralogy of Fallot have successful surgery and live to adulthood.
Causes of tetralogy of Fallot
The cause of most cases of tetralogy of Fallot is not known. Heredity may play a role. In rare cases, more than one child in a family is born with a congenital heart defect like tetralogy of Fallot. Also, parents who have a congenital heart defect may be more likely than other parents to have a child with tetralogy of Fallot.
Babies who have other birth defects, such as DiGeorge syndrome or Down's syndrome, are also more likely to have tetralogy of Fallot.
Other factors that increase the risk of a mother's having a child with tetralogy of Fallot are:
Research is ongoing to find the causes of congenital heart defects.
What are the signs and symptoms of tetralogy of Fallot?
The signs and symptoms in a baby with tetralogy of Fallot depend on the size and severity of the defects.
Common signs and symptoms
A heart murmur may be the first sign found by your doctor. It is an extra or unusual sound heard during the baby's heartbeat. Most babies with tetralogy of Fallot have a heart murmur. The heart murmur may not be heard until after the baby is a few days old.
Cyanosis is a common sign of tetralogy of Fallot. Cyanosis is the bluish tint of skin, lips, and nail beds caused by low levels of oxygen in a baby's blood. Cyanosis usually occurs within the first few days to the first 2 weeks of life. The level of oxygen in the blood depends on:
Your baby may have other signs, such as:
Some babies with tetralogy of Fallot have what are called tetralogy "spells." A spell occurs when there is a sudden drop in the oxygen level in the blood. This causes the baby to become very blue. The baby may also:
The cause of these spells is not known. They can happen when the baby:
Babies who have a tetralogy spell need surgery as soon as possible.
How is tetralogy of Fallot diagnosed?
Doctors diagnose tetralogy of Fallot by doing a physical exam of the baby and ordering medical tests. The signs and symptoms usually appear during the first weeks of life. Your infant's doctor may see the signs or symptoms during a routine checkup. Some parents also notice signs of cyanosis or poor feeding and bring the baby to the doctor.
If the doctor suspects that there is a problem with your baby's heart, you and your infant will be referred to a pediatric cardiologist (a specialist who treats heart problems in children). The specialist will take a family and medical history, do a physical exam, and order several tests.
During the physical exam, the doctor:
An echocardiogram, which is harmless and painless, uses sound waves to create a moving picture of your baby's heart. During an echocardiogram, reflected sound waves outline the heart's structure completely. The test allows the doctor to clearly see any problem with the way the heart is formed or the way it's working. An echocardiogram is the most important test available to your baby's cardiologist to both diagnose a heart problem and follow the problem over time. In babies with tetralogy of Fallot, the echocardiogram outlines all of the defects and shows the cardiologist how severe each one is. The test also shows the doctor how well your baby's heart is adapting to the structural problems, and it helps the doctor to decide when and what kind of surgery should be performed.
During pregnancy, if your doctor suspects that your baby has a congenital heart defect, a special test called a fetal echocardiogram can be done. This test uses sound waves to create a picture of the baby's heart while the baby is still in the womb. The test is usually done during the fifth month of pregnancy. If your child is diagnosed with a congenital heart defect before birth, your doctor can plan treatment before the baby is born.
Cardiac catheterization is another test often performed to diagnose heart problems. In this test, a thin, flexible tube is placed in the top of your baby's leg or arm and passed through an artery or vein to reach the heart. Using X-rays, your baby's doctor can see the baby's blood vessels and heart. The doctor can also measure the pressure inside the heart chambers and determine how much oxygen-rich and oxygen-poor blood is mixing between the two sides of the heart. A cardiac catheterization can also show if the arteries that supply the heart with blood (the coronary arteries) are normal. Cardiac catheterization is sometimes performed if the results of the echocardiogram are not clear or if the doctor suspects other heart problems.
Other tests performed include:
How is tetralogy of Fallot treated?
All infants and children with tetralogy of Fallot must have surgery to repair the defects or help improve their symptoms.
The goals of treatment are to:
Most infants have surgery by the time they are 6 months old. There are different types of surgery for tetralogy of Fallot. Your baby's heart doctor and heart surgeon will determine the type of surgery needed and when it should be performed. Their decision will be based on:
Sometimes, teenagers or adults also need surgery to correct continued problems.
Types of surgery
Surgery to repair the defects of tetralogy of Fallot involves:
Temporary or palliative surgery
Some babies are too weak to have open-heart, corrective surgery. They have temporary surgery, which does not repair the defects of tetralogy of Fallot, but partially improves oxygen levels in the blood to give the baby time to grow and get stronger so the problem can be fixed later.
Instead of open-heart surgery, a small opening can be made between the ribs. The procedure involves:
After surgery, your baby may need medicines to help keep the new blood pathway open.
Treatments while waiting for surgery
Your baby may need other treatments before surgery. These treatments help the baby get stronger. They include:
Babies with tetralogy of Fallot can tire while nursing or feeding. You may need to feed your baby more often. Some babies also need extra nutrition. This is given as a supplement or an extra feeding. These feedings usually are formulas that give the baby extra calories. Many babies need extra vitamins or iron. Your child's doctors will decide what extra nutrition your baby might need.
Lowering your baby's anxiety or stress can help prevent tetralogy "spells" and save the baby's energy. You can try to predict what your baby needs to stop or to lessen crying. For example, picking up an infant slowly and speaking in a soothing voice can avoid startling a baby.
Treating tetralogy spells
If your baby has a tetralogy spell, you should:
Even if the baby's symptoms improve at home without emergency treatment, you should still contact your doctor to report the spell.
After temporary surgery, your baby may need medicines to keep the shunt open while waiting for the corrective surgery. These medicines are stopped after the shunt is removed during the corrective surgery. It is rare to need medicines after corrective surgery unless there are other problems.
The scar from surgery usually heals in about 6 weeks. Your surgeon or another member of the hospital staff will tell you when:
Your baby may need to take medicines to prevent a serious respiratory infection called respiratory syncytial virus (RSV). Because of having the heart defect, your baby may be more prone to get this infection. Your pediatrician or family doctor will decide if your baby needs any medicines to prevent RSV.
Living with tetralogy of Fallot
With new advances in testing and treatment, most children who have tetralogy of Fallot repaired with surgery survive to a healthy adulthood.
Parents of children born with tetralogy of Fallot often think that they did something to cause the problem. It is important that parents know that they did not cause their child's illness.
Treatment and care for your child can be costly. The cost of surgery and hospital stays is very high. Your health insurance may not pay for everything. Many parents need help to cover medical bills. You can get information from your doctor and hospital about how to apply for financial aid.
It is important that you keep your health insurance current. If you think about changing jobs, check to see if the health insurance at the new job will cover a child who has tetralogy of Fallot. Some health insurance plans may not cover some medical conditions that you or your family had before joining the new plan.
It is also very important for your child to have health insurance as adulthood approaches. Review your current health insurance plan. Find out how coverage can be extended beyond age 18. Some policies may allow you to keep your child on your plan if he or she remains in school or is disabled.
The care and treatment of a child with a complex congenital heart condition like tetralogy of Fallot can be very stressful for families. This is especially true during the period surrounding the surgery. Support is very important. Talk to your doctor or hospital social worker about a parental support group in the area. In these groups, you can talk with other parents who are going through the same thing. Counseling can also be very helpful.
It is important for your child to have regular medical care. This includes:
Regular testing is usually recommended. These tests include:
It is important for anyone with tetralogy of Fallot to have routine dental care to prevent tooth decay, which can lead to infections in the heart. Throughout your child's life, he or she should take antibiotics before any dental procedure, including cleaning. Talk to your doctor before taking your child to the dentist.
You may consider having your child wear a medical alert bracelet or necklace. This tells anyone caring for your child that the child has a congenital heart condition.
Some children and adults with tetralogy of Fallot may need to limit certain types of exercise. The limits vary with each child. Discuss with your doctor:
Special needs for children
Your pediatrician or family doctor checks your child for growth and development at each routine checkup. Some children with tetralogy of Fallot do not grow and develop as fast as other children the same age. Most children "catch up" after surgery. However, some babies need help.
Special needs for teenagers
Help your teenager cope with the stresses of growing up with a health problem. Remind your teenager that, with proper care, he or she can grow up healthy and participate in most, if not all, activities.
Let your teenager help make decisions about medical care and his or her life. This fosters independence and encourages regular followup with the doctor.
Some teenagers or young adults need additional surgery. Over time, the pulmonary valve can narrow, slowing blood flow. The valve may need to be widened or replaced. Your cardiologist will discuss with you and your teenager the need for any additional heart surgeries.
Special needs for adults
Over time, some adults may need medicines to help improve heart function or to help stop irregular heartbeats. A cardiologist can decide if you need any medicines. It is important to check with your doctor before changing or stopping any medicines.
Just like teenagers, some adults need additional surgery to repair or replace the pulmonary valve. Other people with tetralogy of Fallot may need to have a pacemaker or defibrillator to help stop or control irregular heartbeats. Your cardiologist will discuss with you the need for any additional surgeries.
Adults who were born with tetralogy of Fallot should consider job changes very carefully, because health benefits may change. Some health plans have waiting periods or clauses to exclude some kinds of coverage. Before making any job changes, find out if the change will affect your health insurance.
Laws, including the Americans with Disabilities Act and the Work Incentives Improvement Act, protect the employment rights of people with disabilities, including some congenital heart defects.
Pregnancy and tetralogy of Fallot
Women with tetralogy of Fallot who want to become pregnant (or who are pregnant) need to: