Does Tetralogy of Fallot involve chromosomal abnormalities?

Written by Chen Guang Yin
Cardiology
Updated on December 02, 2024
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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 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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Emergency treatment for cyanosis in Tetralogy of Fallot

During hypoxic attacks of Tetralogy of Fallot, for mild cases, adopting the knee-chest position can provide relief. Severe cases should immediately receive oxygen and be given relevant medication treatment. Normally, attention should be paid to removing factors that cause hypoxic attacks, such as anemia and infections, and keep the child as calm as possible. For cases where hypoxia cannot be effectively controlled through the above measures, emergency surgical repair should be considered.

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Written by Yan Xin Liang
Pediatrics
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The main cause of hypoxic attacks in Tetralogy of Fallot

Tetralogy of Fallot is a complex congenital heart disease, characterized by ventricular septal defect, right ventricular outflow tract obstruction, aorta overriding, and right ventricular hypertrophy. When the obstruction of the right ventricular outflow tract is severe, pulmonary artery blood flow significantly decreases. A large amount of unoxygenated venous blood passes through the ventricular septal defect causing a right-to-left shunt, which clinically manifests as severe cyanosis and increased red blood cells, and different degrees of hypoxia in the systemic circulation. Factors that can induce hypoxic episodes in these infants include feeding, crying, emotional agitation, anemia, infection, etc. These can suddenly lead to fainting, convulsions, or even death. The main reason is generally due to a sudden muscle spasm at the narrow pulmonary artery infundibulum on top of pre-existing stenosis, causing temporary pulmonary artery obstruction and exacerbating cerebral hypoxia, thus leading to severe hypoxic attacks.

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Written by Hu Qi Feng
Pediatrics
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Tetralogy of Fallot seizure causes

The cause of seizures in Tetralogy of Fallot is episodic hypoxia leading to cerebral hypoxia, which causes seizures, commonly seen in infants. These seizures can be triggered by feeding, crying, emotional excitement, anemia, or infections, manifesting as episodic breathing difficulties. In severe cases, sudden fainting, convulsions, or even death may occur. The underlying cause is the narrowing of the pulmonary artery infundibulum and sudden muscle spasms, which lead to temporary pulmonary artery obstruction, worsening cerebral hypoxia.

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Written by Yan Xin Liang
Pediatrics
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Tetralogy of Fallot shadow on the radiograph

Tetralogy of Fallot is the most common cyanotic heart disease in children over the age of one, accounting for about 10 percent of all congenital heart diseases. Tetralogy of Fallot includes four anatomical abnormalities: a ventricular septal defect, right ventricular outflow tract obstruction, an overriding aorta, and right ventricular hypertrophy. In patients diagnosed through X-ray, the heart size is often within normal limits, typically appearing boot-shaped, with markedly reduced pulmonary vascular markings. The aortic arch may be located on the right side, and the ascending aorta is usually dilated. Patients with rich collateral circulation display prominent pulmonary markings.