Tetralogy of fallot

Tetralogy of Fallot(TOF) is a cardiac anomaly that refers to a combination of four related heart defects that commonly occur together. The four defects are: • • Overriding aorta − the aortic valve is enlarged and appears to arise from both the left and right ventricles instead of the left ventricle asin normal hearts • • Right ventricular hypertrophy− thickening of the muscular walls of the right ventricle, which occurs because the right ventricle is pumping at high pressure A small percentage of children with tetralogy of Fallot may also have additional ventricular septal defects, an The pulmonary stenosis and right ventricular outflow tract obstruction seen with tetralogy of Fallot usually limits blood flow to the lungs. When blood flow to the lungs is restricted, the combination of the ventricular septal defect and overriding aorta allows oxygen-poor blood ("blue") returning to the right atrium and right ventricle to be pumped out the aorta to the body. This "shunting" of oxygen-poor blood from the right ventricle to the body results in a reduction in the arterial oxygen saturation so that babies appear The extent of cyanosis is dependent on the amount of narrowing of the pulmonary valve and right ventricular outflow tract. A narrower outflow tract from the right ventricle is more restrictive to blood flow to the lungs, which in turn lowers the arterial oxygen level since more oxygen-poor blood is shunted from the right ventricle to the aorta. Signs and Symptoms of Tetr...

Background The etiology of TOF is complex and the genesis of TOF has been associated with environmental factors and genetic disorders, including chromosomal anomalies, aneuploidies, 22q11.2 deletion and single-gene disease. Previous literatures have shown that a chromosome alteration in about 30% patients with TOF and recently published articles reported that 22q11.2 deletion syndrome accounts for 16% cases with TOF diagnosed postnatally. CMA now is considered as gold standard for detecting genetic anomalies in fetuses with congenital malformations. CMA could detect a 6.6–25% incremental yield of CNVs in CHDs. The aim of this study was to assess the genetic anomalies in fetal tetralogy of Fallot (TOF) by using high-definition CMA. Methods This retrospective study reviewed all the fetuses diagnosed with TOF between 2013 and 2018. Prenatal ultrasongraphic findings, including cardiac angle, and the findings of CMA using Affymetrix CytoScan HD array were collected. Results Ninety-six fetuses with TOF and known genetic results were enrolled. Right aortic arch was the most common associated anomalies (22.9%). One fetus with trisomy 18, one with 46, XX, t (7;10)(q36;q22), one with 47, XYY and five with trisomy 21 were identified. Clinically significant CNVs occurred in 6.8% and uncertain significant CNVs in 3.4% fetal TOF with normal karyotype. A total of four cases with 22q11.2 microdeletion and two fetuses with Yq11.223q11.23 microduplication have been identified. Genetic ano...

Babies who have TOF with pulmonary atresia have five heart abnormalities: • • Overriding aorta: This means the aorta is moved toward the right side of heart, just over the VSD. • Thickened right ventricle. The right ventricle becomes thicker than normal from pumping blood against resistance. • Complete pulmonary obstruction. In TOF, the pulmonary valve is narrowed, but in children with TOF with pulmonary atresia, there is no pulmonary valve at all to connect the right ventricle to the lungs. This means blood must find its way to the lungs through other, smaller arteries. • Abnormal pulmonary arteries. These arteries may develop abnormally to help move blood to the lungs, but this can vary widely from child to child. In some children, they’re essentially normal, except for the fact that they are connected to the aorta rather than to the right ventricle. These abnormal pulmonary arteries are referred to as major aortopulmonary collateral arteries (MAPCAs). TOF with pulmonary atresia is usually diagnosed shortly after birth. The most common symptom is a bluish tint to the skin, lips, and nail beds, called Babies born with TOF with pulmonary atresia need surgery to correct the problem, usually before 6 months of age. The surgery brings all the pulmonary arteries together (unifocalization), so a connection can be created between the arteries and the right ventricle. Your child may need more than one operation, sometimes over a period of months or years. How we care for tetralog...

Diagnosis Usually, tetralogy of Fallot is diagnosed soon after birth. Your baby's skin may appear blue. A doctor might hear an abnormal whooshing sound (heart murmur) when listening to the baby's heart with a stethoscope. Tests to diagnose tetralogy of Fallot include: • Oxygen level measurement (pulse oximetry). A small sensor placed on a finger or toe measures the amount of oxygen in the blood. • Echocardiogram. An echocardiogram uses sound waves to create pictures of the heart in motion. An echocardiogram can show the structure, placement and function of the heart wall, heart chambers, heart and pulmonary valves, and aorta. • Electrocardiogram (ECG or EKG). An electrocardiogram records the electrical activity in the heart each time it contracts. During this procedure, sticky patches with wires (electrodes) are placed on the chest, wrists and ankles. The wires connect to a computer, which displays the heart's rhythm. An ECG can help determine if the heart chambers are enlarged and if there's an abnormal heartbeat (arrhythmia). • Chest X-ray. A chest X-ray can show the structure of the heart and lungs. A common sign of tetralogy of Fallot on an X-ray is a boot-shaped heart, because the right ventricle is enlarged. • Cardiac catheterization. Doctors may use this test to evaluate the structure of the heart and plan surgical treatment. During this procedure, the doctor inserts a thin, flexible tube (catheter) into a blood vessel, usually in the groin, and guides it to the hea...

Background The etiology of TOF is complex and the genesis of TOF has been associated with environmental factors and genetic disorders, including chromosomal anomalies, aneuploidies, 22q11.2 deletion and single-gene disease. Previous literatures have shown that a chromosome alteration in about 30% patients with TOF and recently published articles reported that 22q11.2 deletion syndrome accounts for 16% cases with TOF diagnosed postnatally. CMA now is considered as gold standard for detecting genetic anomalies in fetuses with congenital malformations. CMA could detect a 6.6–25% incremental yield of CNVs in CHDs. The aim of this study was to assess the genetic anomalies in fetal tetralogy of Fallot (TOF) by using high-definition CMA. Methods This retrospective study reviewed all the fetuses diagnosed with TOF between 2013 and 2018. Prenatal ultrasongraphic findings, including cardiac angle, and the findings of CMA using Affymetrix CytoScan HD array were collected. Results Ninety-six fetuses with TOF and known genetic results were enrolled. Right aortic arch was the most common associated anomalies (22.9%). One fetus with trisomy 18, one with 46, XX, t (7;10)(q36;q22), one with 47, XYY and five with trisomy 21 were identified. Clinically significant CNVs occurred in 6.8% and uncertain significant CNVs in 3.4% fetal TOF with normal karyotype. A total of four cases with 22q11.2 microdeletion and two fetuses with Yq11.223q11.23 microduplication have been identified. Genetic ano...

Babies who have TOF with pulmonary atresia have five heart abnormalities: • • Overriding aorta: This means the aorta is moved toward the right side of heart, just over the VSD. • Thickened right ventricle. The right ventricle becomes thicker than normal from pumping blood against resistance. • Complete pulmonary obstruction. In TOF, the pulmonary valve is narrowed, but in children with TOF with pulmonary atresia, there is no pulmonary valve at all to connect the right ventricle to the lungs. This means blood must find its way to the lungs through other, smaller arteries. • Abnormal pulmonary arteries. These arteries may develop abnormally to help move blood to the lungs, but this can vary widely from child to child. In some children, they’re essentially normal, except for the fact that they are connected to the aorta rather than to the right ventricle. These abnormal pulmonary arteries are referred to as major aortopulmonary collateral arteries (MAPCAs). TOF with pulmonary atresia is usually diagnosed shortly after birth. The most common symptom is a bluish tint to the skin, lips, and nail beds, called Babies born with TOF with pulmonary atresia need surgery to correct the problem, usually before 6 months of age. The surgery brings all the pulmonary arteries together (unifocalization), so a connection can be created between the arteries and the right ventricle. Your child may need more than one operation, sometimes over a period of months or years. How we care for tetralog...

Diagnosis Usually, tetralogy of Fallot is diagnosed soon after birth. Your baby's skin may appear blue. A doctor might hear an abnormal whooshing sound (heart murmur) when listening to the baby's heart with a stethoscope. Tests to diagnose tetralogy of Fallot include: • Oxygen level measurement (pulse oximetry). A small sensor placed on a finger or toe measures the amount of oxygen in the blood. • Echocardiogram. An echocardiogram uses sound waves to create pictures of the heart in motion. An echocardiogram can show the structure, placement and function of the heart wall, heart chambers, heart and pulmonary valves, and aorta. • Electrocardiogram (ECG or EKG). An electrocardiogram records the electrical activity in the heart each time it contracts. During this procedure, sticky patches with wires (electrodes) are placed on the chest, wrists and ankles. The wires connect to a computer, which displays the heart's rhythm. An ECG can help determine if the heart chambers are enlarged and if there's an abnormal heartbeat (arrhythmia). • Chest X-ray. A chest X-ray can show the structure of the heart and lungs. A common sign of tetralogy of Fallot on an X-ray is a boot-shaped heart, because the right ventricle is enlarged. • Cardiac catheterization. Doctors may use this test to evaluate the structure of the heart and plan surgical treatment. During this procedure, the doctor inserts a thin, flexible tube (catheter) into a blood vessel, usually in the groin, and guides it to the hea...

Tetralogy of Fallot(TOF) is a cardiac anomaly that refers to a combination of four related heart defects that commonly occur together. The four defects are: • • Overriding aorta − the aortic valve is enlarged and appears to arise from both the left and right ventricles instead of the left ventricle asin normal hearts • • Right ventricular hypertrophy− thickening of the muscular walls of the right ventricle, which occurs because the right ventricle is pumping at high pressure A small percentage of children with tetralogy of Fallot may also have additional ventricular septal defects, an The pulmonary stenosis and right ventricular outflow tract obstruction seen with tetralogy of Fallot usually limits blood flow to the lungs. When blood flow to the lungs is restricted, the combination of the ventricular septal defect and overriding aorta allows oxygen-poor blood ("blue") returning to the right atrium and right ventricle to be pumped out the aorta to the body. This "shunting" of oxygen-poor blood from the right ventricle to the body results in a reduction in the arterial oxygen saturation so that babies appear The extent of cyanosis is dependent on the amount of narrowing of the pulmonary valve and right ventricular outflow tract. A narrower outflow tract from the right ventricle is more restrictive to blood flow to the lungs, which in turn lowers the arterial oxygen level since more oxygen-poor blood is shunted from the right ventricle to the aorta. Signs and Symptoms of Tetr...

Tetralogy of Fallot(TOF) is a cardiac anomaly that refers to a combination of four related heart defects that commonly occur together. The four defects are: • • Overriding aorta − the aortic valve is enlarged and appears to arise from both the left and right ventricles instead of the left ventricle asin normal hearts • • Right ventricular hypertrophy− thickening of the muscular walls of the right ventricle, which occurs because the right ventricle is pumping at high pressure A small percentage of children with tetralogy of Fallot may also have additional ventricular septal defects, an The pulmonary stenosis and right ventricular outflow tract obstruction seen with tetralogy of Fallot usually limits blood flow to the lungs. When blood flow to the lungs is restricted, the combination of the ventricular septal defect and overriding aorta allows oxygen-poor blood ("blue") returning to the right atrium and right ventricle to be pumped out the aorta to the body. This "shunting" of oxygen-poor blood from the right ventricle to the body results in a reduction in the arterial oxygen saturation so that babies appear The extent of cyanosis is dependent on the amount of narrowing of the pulmonary valve and right ventricular outflow tract. A narrower outflow tract from the right ventricle is more restrictive to blood flow to the lungs, which in turn lowers the arterial oxygen level since more oxygen-poor blood is shunted from the right ventricle to the aorta. Signs and Symptoms of Tetr...

Babies who have TOF with pulmonary atresia have five heart abnormalities: • • Overriding aorta: This means the aorta is moved toward the right side of heart, just over the VSD. • Thickened right ventricle. The right ventricle becomes thicker than normal from pumping blood against resistance. • Complete pulmonary obstruction. In TOF, the pulmonary valve is narrowed, but in children with TOF with pulmonary atresia, there is no pulmonary valve at all to connect the right ventricle to the lungs. This means blood must find its way to the lungs through other, smaller arteries. • Abnormal pulmonary arteries. These arteries may develop abnormally to help move blood to the lungs, but this can vary widely from child to child. In some children, they’re essentially normal, except for the fact that they are connected to the aorta rather than to the right ventricle. These abnormal pulmonary arteries are referred to as major aortopulmonary collateral arteries (MAPCAs). TOF with pulmonary atresia is usually diagnosed shortly after birth. The most common symptom is a bluish tint to the skin, lips, and nail beds, called Babies born with TOF with pulmonary atresia need surgery to correct the problem, usually before 6 months of age. The surgery brings all the pulmonary arteries together (unifocalization), so a connection can be created between the arteries and the right ventricle. Your child may need more than one operation, sometimes over a period of months or years. How we care for tetralog...