Possible causes include: Something in your child's DNA may have changed, and that change rarely comes from a parent. Usually, tetralogy of Fallot is diagnosed soon after birth. Babies with Tetralogy of Fallot may experience intermittent spells of extreme cyanosis, termed "tetralogy spells," or hypercyanotic spells. Low or decreased exercise intolerance. What causes a Hypercyanotic spell? These defects, that have an effect on the structure of the guts, cause oxygen-poor blood to effuse of the heart and to the remainder of the body. A doctor might hear an abnormal whooshing sound (heart murmur) when listening to the baby's heart with a stethoscope. Over time this can clog the circulation and lead to several long-term negative consequences. It is present at birth. Typically, oxygenated blood gives the skin its pinkish hue. However, the risk may be higher if both parents have the heart issue. Low oxygen levels and decreased pulmonary blood flow can cause rapid breathing in babies. Causes Tetralogy of Fallot (TOF) The exact cause of tetralogy of Fallot is unknown. An error occurs as the fetal heart separates. Fig. But sooner or later, TOF always causes life - threatening cardiac problems, and requires surgical repair. He was a French physician renowned for his painstaking physical examination. There is also a VSD (hole between the pumping chambers) which causes the oxygen level in the blood to drop. This can cause a variety of issues, including the following: Bluing of the skin, lips and fingernails (cyanosis) Breathing problems; Patients with tetralogy of Fallot (TOF) have reduced long-term survival compared with the general population, and the median survival in the population with TOF is approximately 55 years.1, 2 Right heart failure is the most common cause of mortality in the adult population with TOF and typically results from right ventricular (RV) volume . These defects, which affect the structure of the heart, cause oxygen-poor blood to flow out of the heart and to the rest of the body. Tetralogy of Fallot is a rare congenital heart condition that is a combination of four simultaneous heart defects that are present even before birth. After surgery, most children will live healthy lives. A parent who was born with an abnormality in their heart doesn't normally pass it to their child. Tetralogy of Fallot is a structural heart anomaly characterized clinically by cyanosis, and anatomically by an obstructed right ventricular outflow tract associated with a ventricular septal defect (see Fig. . Seizures. Many people are symptom free but may have residual or recurrent problems. TOF might be the result of changes to genes or chromosomes. Tetralogy of Fallot consists of 4 features: a large ventricular septal defect, right ventricular outflow tract obstruction and pulmonic valve stenosis, right ventricular hypertrophy, and over-riding of the aorta. Babies with tetralogy are blue at birth or soon after, and have detectable heart murmurs, an extra sound in the heartbeat. Cyanosis, or blue or purple coloration of skin and mucous membranes due to low oxygen saturation. These episodes are called tet spells. Tetralogy of Fallot is a rather common complex cardiac malformation with an incidence of 0.1/1000 live births. Signs and Symptoms of Tetralogy of Fallot. This means it causes the skin to have a bluish hue due to the lack of circulating oxygen. With pulmonary stenosis, blood has difficulty exiting the right ventricle, and a ventricular septal defect creates a hole . developmental delays or problems. clubbed fingers, or growths of skin and bone around the fingernails. Therefore, researchers suspect that something may be affecting the genes in the developing fetus that causes this . It refers to a combination of four congenital (present at birth) heart defects: . Hypercyanotic spells may occur at any stage of life but are more common at 2 - 6 months of age. What causes Tetralogy of Fallot? Borgeskov S, Brockner J, Poulsen T, et al. . The condition causes cyanosis. These defects, which affect the structure of the heart, cause oxygen-poor blood to flow out of the heart and to the rest of the body. Tetralogy of Fallot causes low oxygen levels in the blood, which can lead to cyanosis (a bluish-purple color to the skin). Your provider can fix tetralogy of Fallot with surgery before your baby is 6 months old. Occurs in about 3 in 10,000 live births and causes 7-10% of all congenital cardiac malformations. A number sign (#) is used with this entry because tetralogy of Fallot (TOF) can be caused by heterozygous mutation in the JAG1 gene on chromosome 20p12, the NKX2-5 gene on chromosome 5q35, the GATA4 gene on chromosome 8p23.Tetralogy of Fallot is also a well-recognized feature of many syndromes, including the 22q11 microdeletion syndrome and trisomy 21 (), and has been found to be caused by . It has been suggested that sudden cardiac death is related to right ventricular hypertrophy or dilation. Polycythemia & Tetralogy of Fallot Symptom Checker: Possible causes include Patent Ductus Arteriosus. Tetralogy of Fallot (teh-TRAL-uh-jee of fuh-LOW) is a rare condition caused by a combination of four heart defects that are present at birth (congenital). Causes. It may be seen more commonly in children with Down syndrome or DiGeorge syndrome. Tetralogy of Fallot is a group of 4 congenital heart defects. This imperfection affects the heart structure and might cause insufficiency of oxygen in the blood to flow of the heart. . already present at birth, which classically has four anatomical elements that differentiate the heart of an infant with tetralogy of Fallot from the heart of a . Match. Providers have been doing open-heart surgery to fix tetralogy of Fallot since the 1950s. A displaced aorta, also called overriding aorta or Ao, directly over the abnormal opening between the ventricles. Causes. Babies with tetralogy of Fallot are born with these 4 heart defects: The path that blood takes out of the right side of the heart to the lungs is unusually narrow. Answer (1 of 2): Right to left shunt is present in TOF, which leads to cyanosis. obstruction (pulmonary stenosis), right ventricular hypertrophy, and dextroposition of the aorta, with overriding of the. 3, 4 Advances in perioperative care have increased the survival after total correction to approximately 97%. Tetralogy of Fallot is one of the commonest cyanotic heart defects. Tetralogy of Fallot is the infrequent condition that is caused by an amalgamation of four heart defects that are congenital (present at the birth). Long duration cyanosis causes chronic hypoxia. These include chromosomal abnormalities, untreated gestational diabetes, maternal phenylketonuria, maternal intake of retinoids (such as isotretinoin/Accutane) during pregnancy, maternal alcohol use, viral illness . Tetralogy of Fallot may be present at birth or emerge within the first year of life. Tetralogy of Fallot is most often diagnosed in the first few weeks of life due to either a loud murmur or cyanosis. (DiGeorge) Truncus arteriosus, tetralogy of Fallot Cause of most R-->L shunts Failure of neural crest cells to migrate (Tetralogy, Transposition, Truncus) Clubbing and polycythemia . Estimated Number of People with this Disease In the U.S. there may be between 30,000 to 200,000 What Information Does GARD Have For This Disease? INTRODUCTION. Tetralogy of Fallot is caused by a combination of factors, including untreated maternal diabetes, chromosomal anomalies (trisomy 21, 18, 13), microdeletions of chromosome 22q11.2, phenylketonuria, maternal retinoic acid consumption, and Alagille syndrome with JAG1/NOTCH2 mutations. Causes of Tetralogy of Fallot. Tap card to see definition . These include: maternal alcoholism. In tetralogy of Fallot, the aorta is positioned between the left and right ventricles, above the ventricular septal defect. Tetralogy of Fallot (TOF) is a congenital cardiac malformation. An error occurs as the fetal heart separates into the chambers, valves, and other structures that make up the normal human heart. Tetralogy of Fallot (TOF) is a type of congenital heart disease that affects about five of every 10,000 babies, accounting for about 10 percent of all congenital heart disease. More information for parents of children with Tetralogy of Fallot What causes it? Someone born with TOF is more likely to have a child or sibling . This imperfection affects the heart structure and might cause insufficiency of oxygen in the blood to flow of the heart. The defects cause oxygen-poor blood to be pumped out of the heart and into the circulatory system of the body due to a ventricular septal defect (VSD). Syndromes inherited in an autosomal . Routine blood testing may be recommended. The latter is known as a right-to-left shunt. Children are born with this condition. Slower rate of growth than littermates. These defects, which affect the structure of the heart, cause oxygen-poor blood to flow out of the heart and to the rest of the body. Gravity. The TOF changes in a baby's heart develop in the early weeks of pregnancy. 1, 2 The first cardiac repair of TOF was successfully performed in 1955 in the United States and in 1965 in Taiwan. Sometimes, babies who have tetralogy of Fallot will suddenly develop deep blue skin, nails and lips after crying or feeding, or when agitated. Fainting. Tetralogy of Fallot (TOF) is one of the oldest documented CHDs, with a growing prevalence of adult patients, and thus serves as an excellent model for this review. Tetralogy of Fallot develops when a child's heart is developing during the fetal growth stage. Your provider can fix tetralogy of Fallot with surgery before your baby is 6 months old. Infants and children with tetralogy of Fallot . Tetralogy of Fallot (TOF) is a congenital cardiac malformation. Experts aren't sure exactly what causes the defects. Tetralogy of Fallot (teh-TRAL-uh-jee of fuh-LOW) is a rare condition caused by a combination of four heart defects that are present at birth (congenital). . Tetralogy of Fallot (pronounced "Fallot's tetralogy") also known as "Steno-Fallot tetralogy" or "blue child syndrome" or "quadrilogy of Fallot" (hence the acronym TOF or ToF) is a congenital heart malformation, i.e. Click card to see definition . Tetralogy of Fallot (TOF) is a congenital heart defect (heart defect present at birth) made up of multiple heart defects that cause the blood to be inadequately oxygenated. This is often diagnosed in the first few weeks of life. These can be serious and even life-threatening. Some patients with tetralogy of Fallot have complete obstruction to flow from the right ventricle. Some children can have other heart defects along with tetralogy of Fallot. Heart defects such as tetralogy of Fallot also are thought to be caused by a combination of genes and other risk factors, such as the things the mother or fetus come in contact with in the environment or what the mother eats or drinks or the medicines she uses. Dyspnea, or shortness of breath. The syndrome consists of a number of a number of cardiac defects possibly stemming from abnormal neural crest migration. Without surgical intervention, patients had a 1 year survival rate of 66%, 49% after 2 years and only 10-15% after more than 20 years [1,2]. . Symptoms of Tetralogy of Fallot. Background: Sudden cardiac death remains the most common cause of death after repair of tetralogy of Fallot. Definition. The cause of this condition is unknown. failure to gain weight. It occurs in about 3.5% of all infants born with congenital heart disease. According to the Centers for Disease Control and Prevention (CDC), around 1660 babies are born with this condition each year in the United States. Tetralogy of Fallot is a condition where there is a narrowing in the blood flow from the right ventricle to the lungs, as a consequence of thick muscle underneath the pulmonary valve and a small pulmonary valve. In a tetralogy of Fallot heart, the aorta is located between both the left and the right ventricle. Hypercyanotic . Tetralogy of Fallot involves a defect in the heart structure that arises while the baby is still in the mother's womb. Fixing the ventricular septal defect and pulmonary valve issue takes care of the other two problems, including the overriding aorta. Doctor's Notes on Tetralogy of Fallot. This causes right-to-left shunting at the VSD and decreased pulmonary blood flow. The children that have tetralogy of Fallot have blue-tinged skin . Your baby's skin may appear blue. Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.