About fallot's tetralogy
What is fallot's tetralogy?
Tetralogy of Fallot is the most common form of cyanotic congenital heart disease. Cyanosis is the abnormal bluish discoloration of the skin that occurs because of low levels of circulating oxygen in the blood. Tetralogy of Fallot consists of the combination of four different heart defects: a ventricular septal defect (VSD); obstructed outflow of blood from the right ventricle to the lungs (pulmonary stenosis); a displaced aorta, which causes blood to flow into the aorta from both the right and left ventricles (dextroposition or overriding aorta); and abnormal enlargement of the right ventricle (right ventricular hypertrophy). The severity of the symptoms is related to the degree of blood flow obstruction from the right ventricle.
The normal heart has four chambers. The two upper chambers, known as atria, are separated from each other by a fibrous partition known as the atrial septum. The two lower chambers are known as ventricles and are separated from each other by the ventricular septum. Valves connect the atria (left and right) to their respective ventricles. The valves allow for blood to be pumped through the chambers. Blood travels from the right ventricle through the pulmonary artery to the lungs where it receives oxygen. The blood returns to the heart through pulmonary veins and enters the left ventricle. The left ventricle sends the now oxygen-filled blood into the main artery of the body (aorta). The aorta sends the blood throughout the body.
If infants with tetralogy of Fallot are not treated, the symptoms usually become progressively more severe. Blood flow to the lungs may be further decreased and severe cyanosis may cause life-threatening complications. The exact cause of tetralogy of Fallot is not known.
What are the symptoms for fallot's tetralogy?
The symptoms of tetralogy of Fallot vary widely from person to person. The severity of the symptoms, which may range from mild to severe, is related to the degree of blood flow obstruction from the right ventricle.
Tetralogy of Fallot may be present at birth or emerge within the first year of life. The most common symptom of this disorder is abnormal bluish discoloration of the skin (cyanosis). This may occur while the child is at rest or crying. The mucous membranes of the lips and mouth, fingertips, and toenails may be particularly blue due to the lack of oxygen. Affected infants may have Difficulty breathing (dyspnea); as a result, they tend to play for short periods and then rest. Other symptoms may include a heart murmur, easy fatigability, poor appetite, slow Weight gain, heart murmurs, an abnormal increase in the numbers of red blood cells (polycythemia), fingers and toes with wide, enlarged tips and overhanging nails (clubbing), and/or delayed physical growth.
Some infants with tetralogy of Fallot may experience episodes of severe cyanosis and breathing difficulty (paroxysmal hypercyanotic attack or “blue” or “tet” spells). During these episodes, the infant may become restless, extremely cyanotic while gasping for air and nonresponsive to parent’s voices. In extreme situations, infants may pass out. A characteristic squatting position may be assumed to help assist breathing. Severe attacks may lead to the loss consciousness, and occasionally to convulsions or temporary paralysis on one side of the body (hemiparesis). These spells may last for a few minutes to a few hours and may be followed by periods of muscle Weakness and a prolonged period of sleep.
A variety of other complications may occur in association with tetralogy of Fallot. These may include mild anemia in infants, abnormal increase in the number of red blood cells (polycythemia) in older children, and blood clotting (coagulation) defects. These blood abnormalities may lead to the formation of blood clots that can travel through the blood stream (embolisms). These blood clots may cause the blood supply to the brain (cerebral infarctions) to be interrupted temporarily. Additional complications may include infectious inflammation of the sinuses (sinusitis) and brain abscesses. In some cases, the connection between the aorta and the pulmonary artery, which normally closes before birth, may remain open (patent ductus arteriosus). The symptoms associated with this condition vary depending upon the size of the opening and may include Rapid breathing, frequent respiratory infections, and easy fatigability. Congestive heart failure is rare, except in association with bacterial infection of the heart (endocarditis) or abnormal heart rhythms (arrhythmias). However, a common sign is a heart murmur, or an extra sound heard while listening to the heartbeat.
The most severe form of tetralogy of Fallot is known as pseudotruncus arteriosus. Infants with this form of the disorder experience severe symptoms that relate to the profound obstruction of the right ventricular blood flow and severe underdevelopment of associated blood vessels and valves related to the lungs (pulmonary atresia). Ventricular septal defects are usually severe in this form of the disorder. Severe cyanosis, alarmingly low levels of circulating oxygen, and excessive circulating red blood cells (polycythemia) are the major features of pseudotruncus arteriosus. (For more information, see “Ventricular Septal Defect” in the Related Disorders section of this report.)
What are the causes for fallot's tetralogy?
Tetralogy of Fallot occurs as the baby's heart is developing during pregnancy. Usually, the cause is unknown.
Tetralogy of Fallot includes four defects:
- Narrowing of the lung valve (pulmonary valve stenosis). Narrowing of the valve that separates the lower right chamber of the heart (right ventricle) from the main blood vessel leading to the lungs (pulmonary artery) reduces blood flow to the lungs. The narrowing might also affect the muscle beneath the pulmonary valve. Sometimes, the pulmonary valve doesn't form properly (pulmonary atresia).
- A hole between the bottom heart chambers (ventricular septal defect). A ventricular septal defect is a hole in the wall (septum) that separates the two lower chambers of the heart (left and right ventricles). The hole causes oxygen-poor blood in the right ventricle to mix with oxygen-rich blood in the left ventricle. This causes inefficient blood flow and reduces the supply of oxygen-rich blood to the body. The defect eventually can weaken the heart.
- Shifting of the body's main artery (aorta). Normally the aorta branches off the left ventricle. In tetralogy of Fallot, the aorta is in the wrong position. It's shifted to the right and lies directly above the hole in the heart wall (ventricular septal defect). As a result, the aorta receives a mix of oxygen-rich and oxygen-poor blood from both the right and left ventricles.
- Thickening of the right lower heart chamber (right ventricular hypertrophy). When the heart's pumping action is overworked, the muscular wall of the right ventricle becomes thick. Over time this might cause the heart to stiffen, become weak and eventually fail.
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.
What are the treatments for fallot's tetralogy?
The definitive treatment for tetralogy of Fallot is surgery (i.e., Blalock-Taussig shunting procedure, aortic/pulmonary shunt, intracardiac repair, balloon pulmonary valvuloplasty and/or valve replacement). Surgical correction of this heart malformation is best accomplished during infancy. Selection of the exact surgical procedure is based on the severity of symptoms and extent of the malformation.
The surgeon will widen the pulmonary valve and the passage from the right ventricle to the pulmonary artery is enlarged. A patch covers the hole in the septum to repair the ventricular septal defect. By resolving the VSD and the pulmonary valve problems, it fixes the other two defects.
Temporary surgery may be recommended babies are too weak or small to have the full repair surgery; the full repair surgery will be performed when the baby is stronger. A tube or a “shunt” is placed between a large artery branching off the aorta and the pulmonary artery. It creates a pathway for blood to travel to the lungs to get oxygen. The tube is removed during the full repair surgery.
When early repair is not possible, other surgical measures may be taken during infancy or early childhood.
Prior to surgery, treatment to control symptoms (palliative) may include the maintenance of adequate fluid intake (hydration), monitoring of hemoglobin levels in the blood, and the avoidance of strenuous exercise. Heart medications (i.e., digitalis) may be prescribed to help control irregular heartbeats (arrhythmias), rapid heartbeats, and/or heart failure.
Episodes of severe symptoms or “blue spells” (hypoxia) may require the administration of supplemental oxygen, morphine, and/or other drugs that improve oxygen concentration. The knee-chest position may also bring some symptomatic relief. Sodium bicarbonate may be administered to lower abnormally high levels of acid in the blood (acidosis). The drug propranolol may be given to help prevent future spells and to reduce their severity. Drugs that help to remove excess fluid from the body (diuretics), dietary salt restriction, and bed rest may be effective in treating congestive heart failure.
Antibiotics may be prescribed to infants with tetralogy of Fallot to help prevent infections (prophylaxis) because children with this disorder are susceptible to bacterial infection of the heart (endocarditis). Respiratory infections must be treated vigorously and early. Children should be given antibiotics at times of predictable risk (e.g., tooth extractions and surgery). Other treatment is symptomatic and supportive.
Although the risk for tetralogy of Fallot in the siblings of infants with this disorder is thought to be very low, genetic counseling may be of benefit for parents and other family members.
What are the risk factors for fallot's tetralogy?
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 viral illness during pregnancy, such as rubella (German measles)
- Drinking alcohol during pregnancy
- Poor nutrition during pregnancy
- A mother older than age 40
- A parent who has tetralogy of Fallot
- The presence of Down syndrome or DiGeorge syndrome in the baby