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 Clinical Symptoms

The clinical manifestations of Tetralogy of Fallot include cyanosis, with cyanosis being the primary symptom. The severity of cyanosis is related to the extent of pulmonary stenosis and is commonly seen in areas rich in capillaries, such as the lips, fingertips, nail beds, and conjunctiva, where it appears more pronounced during physical activity or crying. Secondly, the squatting symptom is observed; children may show squatting behavior during walking or playing, often squatting down voluntarily for a moment. During squatting, the flexion of the lower limbs reduces the venous return to the heart, lightening the cardiac load and decreasing the right-to-left shunting, thereby alleviating hypoxia. Thirdly, clubbing of the fingers occurs due to long-term hypoxia, leading to hypertrophic growth at the fingertip and toe ends. Fourthly, paroxysmal hypoxic attacks occur.

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Written by Hu Qi Feng
Pediatrics
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What position should be adopted when Tetralogy of Fallot is hypoxic?

Treatment of hypoxic episodes in Tetralogy of Fallot: For mild cases, assuming the knee-chest position can alleviate symptoms. Severe cases require immediate oxygen administration and relevant drug therapy. Routinely, it is important to actively eliminate factors that trigger hypoxic episodes, such as anemia and infections, and maintain the child's tranquility. If the above treatments do not effectively control the episodes, emergency surgical intervention for repair or definitive treatment should be considered.

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Written by Yan Xin Liang
Pediatrics
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The most common complication of Tetralogy of Fallot

Tetralogy of Fallot is the most common cyanotic congenital heart disease, consisting of four abnormalities: ventricular septal defect, obstruction of the right ventricular outflow tract, overriding aorta, and right ventricular hypertrophy. Several complications are prone to occur in Tetralogy of Fallot: Firstly, due to the increase in red blood cells, embolism can occur, especially cerebral embolism is the most common. Children over two years old can also develop brain abscesses. Secondly, bacterial endocarditis often occurs at sites such as the right ventricular infundibulum, pulmonary valve, or aortic valve.

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Pediatrics
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Why does Tetralogy of Fallot squat?

The primary deformity in Tetralogy of Fallot is the obstruction of the right ventricular outflow, which leads to increased right ventricular pressure and a right-to-left shunt causing cyanosis. When the child squats, the flexion of the lower limbs can reduce the return of blood to the heart, alleviating the burden on the right ventricle. At the same time, it can increase systemic circulation resistance, reducing the right-to-left shunt in the heart, thereby alleviating the child's symptoms of hypoxia.

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Written by Hu Qi Feng
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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.