Definition

Tetralogy of Fallot (teh-tral-uh-je ov fuh-LOE) is a rare condition caused by a combination of four heart defects that are present at birth. These defects, which affect the structure of the heart, cause oxygen-poor blood to flow out of the heart and into 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 may not be detected until later in life, depending on the severity of the defects and symptoms. With early diagnosis followed by appropriate treatment, most children with tetralogy of Fallot live relatively normal lives, though they'll need regular medical care and may have restrictions on exercise.

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 Loss of consciousness (fainting) Clubbing of fingers and toes an abnormal, rounded shape of the nail bed Poor weight gain Tiring easily during play Irritability Prolonged crying A heart murmur Tet spells Sometimes, babies with tetralogy of Fallot will suddenly develop deep blue skin, nails and lips after crying, feeding, having a bowel movement, or kicking his or her legs upon awakening. These episodes are called Tet spells and are caused by a rapid drop in the amount of oxygen in the blood. Toddlers or older children may instinctively squat when they are short of breath. Squatting increases blood flow to the lungs. Tet spells are more common in young infants, around 2 to 4 months old.

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 may 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. This is a narrowing of the pulmonary valve, the flap that separates the right ventricle of the heart from the pulmonary artery, the main blood vessel leading to the lungs. Constriction of the pulmonary valve reduces blood flow to the lungs. The narrowing may also affect the muscle beneath the pulmonary valve. Ventricular septal defect. This is a hole in the wall that separates the two lower chambers (ventricles) of the heart. The hole allows deoxygenated blood in the right ventricle blood that has circulated through the body and is en route 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 dilutes 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 enlarge and thicken. Over time this may cause the heart to stiffen, become weak and eventually fail. Rarely, some babies who have tetralogy of Fallot will have a hole between their heart's upper chambers (atrial septal defect), as well. When this occurs, the condition is known as pentalogy of Fallot.

Risk factors
While the exact cause of tetralogy of Fallot is unknown, several factors may increase the risk of a baby being born with this condition. These include: A viral illness in the mother, such as rubella (German measles), during pregnancy Maternal alcoholism Poor nutrition A mother older than 40 A parent with tetralogy of Fallot Babies who are also born with Down syndrome or DiGeorge syndrome

Treatments and drugs

Surgery is the only effective treatment for tetralogy of Fallot. There are two types of surgery that may be performed, including intracardiac repair or a temporary procedure that uses a shunt. Most babies and children will have intracardiac repair. Intracardiac repair Tetralogy of Fallot treatment for most babies involves a type of open-heart surgery called intracardiac repair. This surgery is typically performed during the first year of life. During this procedure, the surgeon places a patch over the ventricular septal defect to close the hole between the ventricles. He or she also repairs the narrowed pulmonary valve and widens the pulmonary arteries to increase blood flow to the lungs. After intracardiac repair, the oxygen level in the blood increases and your baby's symptoms will lessen. Temporary surgery Occasionally babies need to undergo a temporary surgery before having intracardiac repair. If your baby was born prematurely or has pulmonary arteries that are underdeveloped (hypoplastic), doctors will create a bypass (shunt) between the aorta and pulmonary artery. This bypass increases blood flow to the lungs. When your baby is ready for intracardiac repair, the shunt is removed. After the surgery While most babies do well after intracardiac repair, complications are possible. Possible complications are chronic pulmonary regurgitation, in which blood leaks through the pulmonary valve, and an irregular

heartbeat (arrhythmia). Sometimes blood flow to the lungs is still restricted after intracardiac repair. Infants and children with these complications may require another surgery, and in some cases, their pulmonary valves may be replaced by artificial valves. Pulmonary valve replacement sometimes isn't necessary until decades after the original surgery. In addition, as with any surgery, there's a risk of infection, unexpected bleeding or blood clots. Arrhythmias are usually treated with medication, but some people may need a pacemaker or implantable defibrillator later in life. Complications can continue throughout childhood, adolescence and adulthood. Your child will need lifelong medical follow-up to monitor for and treat any complications. Ongoing care After surgery your baby will require continuing care. Your doctor will schedule routine checkups with your child to make sure that the procedure was successful and to monitor for any new problems. Your doctor may also recommend that your child limit physical activity. However, if surgery was completely successful and there's no pulmonary valve leakage or obstruction, your child may not have any activity restrictions. Sometimes, doctors recommend that your child take antibiotics during dental procedures to prevent infections that may cause endocarditis, an inflammation of the lining of the heart. Although, in cases where the heart was completely repaired, your child may not need preventive antibiotics. Preventive antibiotics are, however, recommended specifically for those who have artificial valves or who've had repair with prosthetic material. Ask your cardiologist what's right for your child.

Tetralogy of Fallot is a combination of four congenital abnormalities. 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 an insufficient amount of oxygenated blood reaching the body.