Is tetralogy of Fallot a chromosomal problem?

Written by Yan Xin Liang
Pediatrics
Updated on January 10, 2025
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Tetralogy of Fallot is the most common cyanotic congenital heart disease in childhood, consisting of four defects: ventricular septal defect, obstruction of the right ventricular outflow tract, overriding aorta, and right ventricular hypertrophy. It is a type of congenital heart disease, which generally stems from abnormal cardiovascular development during fetal life, resulting in cardiovascular malformations not controlled by chromosomes. The malformation of the cardiovascular system is mainly caused by genetic factors, environmental factors, and their interactions. The exact cause of this congenital heart disease has not been fully identified yet, indicating that it is not a chromosomal disease but a result of cardiovascular developmental abnormalities during fetal life.

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Written by Chen Guang Yin
Cardiology
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Is it normal after the complete repair of Tetralogy of Fallot?

Tetralogy of Fallot is a serious congenital heart defect characterized by a ventricular septal defect, pulmonary stenosis, and problems with right ventricular obstruction. It is a congenital disease that can cause hypoxia throughout the body, especially as age increases, the symptoms tend to worsen. After the corrective surgery for Tetralogy of Fallot, it does not mean that the patient is completely normal. Their lifespan is still somewhat impacted. They will not be like patients with simpler congenital heart diseases such as only a ventricular septal defect or atrial septal defect, who can achieve a natural lifespan. For these individuals, their lifespan is still impacted to some extent. As they age post-surgery, some complications may arise, including sudden death, and some may require a second surgery.

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Written by Chen Guang Yin
Cardiology
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Does Tetralogy of Fallot involve chromosomal abnormalities?

Tetralogy of Fallot is primarily a developmental disorder, generally unrelated to chromosomes, with no chromosomal abnormalities. The cause of the disease is still not very clear. If pregnant again and giving birth again, it generally does not recur. Therefore, couples undergoing chromosomal testing before pregnancy is a common practice. It is generally believed that the four malformations in Tetralogy of Fallot occur due to viral infections acquired by the fetus during pregnancy, the mother consuming alcohol, or the use of certain medications during pregnancy. Currently, these are considered related factors, and so far, no abnormalities have been found related to genetics or chromosomes.

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Written by Hu Qi Feng
Pediatrics
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Tetralogy of Fallot's composition and its causes of formation

Tetralogy of Fallot consists of four abnormalities. First, there is a narrowing at the right ventricular outflow, ranging from the entrance of the right ventricular infundibulum to the branches of the left and right pulmonary arteries. Second, there is a ventricular septal defect, characterized by a deficiency around the membranous part that extends towards the outflow. Third, the aorta overrides, where the base of the aorta is enlarged and rotates clockwise to the right, straddling the septal defect. Fourth, right ventricular hypertrophy, which is a secondary lesion.

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Written by Hu Qi Feng
Pediatrics
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Tetralogy of Fallot is what?

Tetralogy of Fallot is the most common cyanotic congenital heart disease in infants, accounting for about twelve percent of all congenital heart diseases. It was thoroughly described by the French physician Fallot in 1888, which is how it got its name. Tetralogy of Fallot consists of four cardiac malformations: first, obstruction of the right ventricular outflow tract; second, ventricular septal defect; third, overriding aorta; fourth, right ventricular hypertrophy.

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Written by Hu Qi Feng
Pediatrics
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Management of Hypoxic Episodes in Children with Tetralogy of Fallot

In the treatment of hypoxic episodes in children with Tetralogy of Fallot, mild cases can be alleviated by positioning the child in a knee-chest position, while severe cases should receive immediate oxygen therapy, along with appropriate medication to correct acidosis. It is important to regularly eliminate factors that may trigger hypoxic episodes, such as anemia and infections, and to maintain a calm environment for the child. If these measures do not effectively control the episodes, emergency surgical repair should be considered.