Tetralogy of Fallot
With early detection and appropriate treatment, most children with tetralogy of Fallot live relatively normal lives, despite frequent medical care and possible physical limitations.
Tetralogy of Fallot is a rare disease caused by a combination of four heart defects at birth. These congenital defects affect the heart's structure, causing oxygen-poor blood in the heart to flow into the rest of the body. Infants and children with tetralogy of Fallot often have bluish-purple skin because they are not carrying enough oxygen.
Tetralogy of Fallot is usually diagnosed during infancy or shortly thereafter. However, tetralogy of Fallot may not be discovered until much later, depending on the severity of the disability and the symptoms. With early detection and appropriate treatment, most children with tetralogy of Fallot live relatively normal lives, despite frequent medical care and possible physical limitations.
Symptoms of tetralogy of Fallot vary, depending on the degree of obstruction of blood flow in the right ventricle and into the lungs.
Signs and symptoms may include
Blue skin is caused by low-oxygen blood (cyanotic).
Shortness of breath and rapid breathing, especially while eating.
Loss of consciousness - fainting.
Fingers and toes drumstick - the irregular shape of the foundation.
Poor weight gain.
Tired easily while playing.
Occasionally, infants with tetralogy of Fallot suddenly develop severe cyanosis, fingernails, and lips after crying, eating, having a bowel movement, or kicking their feet when they wake up. This condition is caused by a rapid decrease in the amount of oxygen in the blood. Children may instinctively squat when out of breath. Sitting increases blood flow to the lungs. Sudden cyanosis is more common in young children, around 2 to 4 months old.
Seek medical help if your baby has the following symptoms
Shortness of breath.
Fainting or convulsion.
If the baby is cyanotic, immediately bring it towards you and pull your knees up to your chest. This helps increase blood flow to the lungs.
Tetralogy of Fallot occurs during fetal development when the baby's heart is developing. While factors such as poor maternal nutrition, viral disease or genetic disorders may increase the risk of this condition, in most cases the cause of tetralogy of Fallot is unknown.
The four abnormalities causing tetralogy of Fallot include:
Pulmonary valve stenosis. This is a narrowing of the pulmonary valve, the flap separating the heart's right ventricle and the pulmonary artery, the main blood vessel leading to the lungs. Pulmonary valve spasm reduces blood flow to the lungs. The narrowing can also affect the muscles below the pulmonary valve.
Communication septum. The hole in the wall separates the two lower chambers (ventricles) of the heart. The holes allow oxygen-poor blood in the right ventricle - blood that circulates throughout the body to the lungs to replenish its oxygen supply - to flow into the left ventricle and combine with oxygenated blood from the lungs. Blood from the left ventricle also flows back to the right ventricle inefficiently. This ability to allow blood to flow through the ventricular septal defect thins the blood that delivers oxygen to the body and can eventually weaken the heart.
Equestrian aorta. Normally the aorta, the main artery leading outside the body, comes out of the left ventricle. In the tetralogy of Fallot, the aorta shifts 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 sides, mixing oxygen-poor blood from the right ventricle with oxygen-rich blood from the left ventricle.
Right ventricular hypertrophy. When the heart's pumping action is overworked, it causes the wall of the right ventricle to thicken. This time can cause the heart to stiffen, become weak and eventually fail.
While the exact cause of tetralogy of Fallot is unknown, several factors can increase the risk of a baby being born with the condition. These include:
A viral illness in the mother, such as rubella (German measles), during pregnancy.
An alcoholic mother.
Mother over 40 years old.
Parents with tetralogy of Fallot.
The baby is born with Down syndrome or DiGeorge syndrome.
All infants with tetralogy of Fallot require corrective surgery. Without treatment, your baby may not grow and develop properly. There is also the risk of serious complications, such as infective endocarditis, an inflammation of the inner lining of the heart caused by a bacterial infection.
Without treatment, tetralogy of Fallot often develops serious complications over time, which can lead to death.
Tests and diagnostics
After a baby is born, tetralogy of Fallot may be suspected if he has bluish-purple skin or if he has a heart murmur - an abnormal sound caused by turbulent blood flow. By using a number of tests, your doctor can confirm the diagnosis.
X-ray. A typical radiographic finding of tetralogy of Fallot is an enlarged heart, as the right ventricle is dilated.
Blood tests. The test measures the number of each type of cell in the blood called whole blood. In the tetralogy of Fallot, the red blood cell count may be abnormally high (erythrocytosis) as the body tries to increase the level of oxygen in the blood.
Measure oxygen. This test uses a small sensor that can be placed on a finger or toe to measure the amount of oxygen in the blood.
Echocardiography. An echocardiogram uses sound waves, which cannot be heard by the ear, to create an image of the heart. Sound waves exit the baby's heart and create moving images that can be viewed on a video monitor. This test helps diagnose tetralogy of Fallot because it allows doctors to see defects in the ventricular septum, the structure of the pulmonary valve, the right ventricle, and the aorta.
ECG. Record the electrical activity in the heart each time it contracts. During this procedure, electrodes with wires are placed on your baby's chest, wrists, and ankles. Electrical activities are recorded on paper.
Cardiac catheterization. In this procedure, the doctor inserts a catheter into a baby's artery or vein in the groin. Dye is injected through the catheter to make heart structures visible on X-ray images. This catheter also measures pressure and oxygen levels in the heart chambers and blood vessels.
Treatments and drugs
Only surgery is effective in treating tetralogy of Fallot. There are two types of surgery that can be performed, including an intracardiac repair or a temporary procedure that uses a shunt. Most babies and children will have heart repair.
Treatment for tetralogy of Fallot for most infants involves a type of open-heart surgery called intracardiac repair. This surgery is usually done during the first year of life. In this procedure, the surgeon places a patch over the interventricular septum to close the hole between the two ventricles. Also corrects stenosis of the pulmonary valve and widens the pulmonary artery to increase blood flow to the lungs. After the repair in the heart, the oxygen level in the blood increases, and the baby's symptoms subside.
Sometimes babies need to undergo temporary surgery before making an intracardiac repair. If your baby was born prematurely or has an underdeveloped (hypoplastic) pulmonary artery, doctors will create a bypass (shunt) between the aorta and the pulmonary artery. This increases blood flow to the lungs. When the baby is ready for intracardiac repair, the shunt is removed.
While most babies do well after an intracardiac repair, complications can occur. Complications can be chronic pulmonary edema, pulmonary valve regurgitation, and abnormal heart rhythms (arrhythmias). Sometimes blood flow to the lungs remains restricted after repair in the heart. Infants and children with complications may require other surgery, and in some cases, the pulmonary valve may be replaced with an artificial valve. Pulmonary valve replacement is sometimes not necessary until decades after the initial surgery. In addition, with surgery, there is a risk of infection, abnormal bleeding, or blood clots. Arrhythmias are usually treated with medication, but some people may need a pacemaker or implantable defibrillator later on. Complications can continue throughout childhood, adolescence, and adulthood. Lifelong follow-up and treatment are required for any complications.
Taking care after surgery
After surgery, ask for continued care. Your doctor will check in regularly to make sure the procedure was successful and to monitor for any new problems.
Your doctor may also recommend limited activity. However, if surgery has been completely successful and there is no regurgitation or pulmonary artery obstruction, there may not be any operational limitations.
Doctors sometimes recommend that children take antibiotics during dental procedures to prevent infections that can cause endocarditis, an inflammation of the heart lining. Although, in cases where the heart is completely repaired, prophylactic antibiotics may not be needed. However, prophylactic antibiotics are specifically recommended for people with prosthetic valves or those who have had a prosthetic repair. Ask your cardiologist what is right for your child.
Lifestyle and remedies
As you get older, there may be a number of concerns about how best to take care of yourself, including:
Prevent infection. A child with a severe heart defect may need prophylactic antibiotics before certain dental and surgical procedures. Your doctor will help find out if this is necessary. Maintaining good oral hygiene and getting regular dental checkups are great ways to help prevent infection.
Exercise and have fun. Parents of children with congenital heart defects are often concerned about the risk of shortness of breath and vigorous activity even after successful treatment. Although some children may need to limit the amount or type of exercise, many can or are close to leading a normal life. The decision about whether to exercise is made on a case-by-case basis, so ask your child's doctor if it's safe to do so.
If you are an adult with congenital heart disease, there may be concerns, such as:
Job. Having a congenital heart defect will generally not limit career options. But necessary if adults have serious heart rhythm problems or the potential for life-threatening complications.
Pregnant. Most women with congenital heart disease can endure pregnancy without any problems. However, having a severe defect or complication such as chronic pulmonary edema or cardiac arrhythmia can increase the risk of complications during pregnancy.
Experts recommend that anyone with congenital heart disease, carefully consider starting a family, and discuss it with their doctor first. In some cases, consultation with physicians specializing in cardiology, genetics, and high-risk obstetric care. Some heart medications are not safe during pregnancy and may need to be stopped or adjusted before becoming pregnant.
Coping and supporting
It can be extremely scary to learn that your baby has a potentially life-threatening heart defect. Although support groups aren't for everyone, talking with other parents of children - especially those who have undergone surgery - can provide hope, encouragement, and to lean on. Ask your doctor if there are any support groups for parents of children with heart defects in your area.
Be sure to give yourself a break. Ask other family members or friends to help with care. While your child is in the hospital, check out the schedule from friends and family visiting him so he can go home to rest, or spend time with another child.
To help coordinate child care, a brief note can be prepared with your child's diagnosis, medications, surgery, and cardiologist's name. This note will provide the information others need to care for your baby and will help any new doctor understand your baby's health history.