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 Hu Qi Feng
Pediatrics
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Tetralogy of Fallot cyanosis cause

Tetralogy of Fallot, due to a ventricular septal defect combined with right ventricular outflow tract narrowing, can display left-to-right, bidirectional, or even right-to-left shunting at the ventricular level. Patients with mild pulmonary stenosis can have left-to-right shunting and usually do not exhibit cyanosis. However, when the pulmonary stenosis is severe, significant right-to-left shunting occurs, and clinically apparent cyanosis becomes evident. Cyanosis is commonly observed in areas rich in capillaries and superficial tissues, such as the lips, fingertips, nail beds, and bulbar conjunctiva.

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Written by Hu Qi Feng
Pediatrics
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Tetralogy of Fallot in children who prefer squatting is because

Tetralogy of Fallot exhibits squatting symptoms because squatting involves flexing the lower limbs, which reduces the amount of venous return to the heart, thereby decreasing the cardiac workload. At the same time, the arteries of the lower limbs are compressed, increasing systemic vascular resistance, reducing right-to-left shunting, and temporarily alleviating hypoxia symptoms. Infants who cannot walk often prefer to be held with their thighs up, with both lower limbs bent; after they become able to walk, they frequently squat down momentarily during walking or playing.

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Written by Chen Guang Yin
Cardiology
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Can Tetralogy of Fallot receive oxygen therapy?

Tetralogy of Fallot is a congenital heart defect that includes abnormalities such as ventricular septal defects, pulmonary valve stenosis, and stenosis of the right ventricular outflow tract. Due to these congenital defects, the ejection of blood from the heart is affected, which in turn impacts the blood supply to various systems and organs throughout the body. The patient may exhibit symptoms of cyanosis and hypoxia, especially after physical activity, hence the use of supplemental oxygen is advisable. While oxygen therapy can temporarily alleviate these hypoxic symptoms, it does not address the underlying issue. Surgery is necessary for a definitive resolution.

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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.

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Written by Hu Qi Feng
Pediatrics
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Tetralogy of Fallot syncope causes

The causes of syncope in Tetralogy of Fallot generally involve episodic hypoxia attacks, which are more common in infants. Triggers include breastfeeding, crying, emotional excitement, anemia, and infections. The symptoms manifest as episodic breathing difficulties, and severe cases can suddenly lead to syncope with convulsions or even death. The underlying reason is the narrowing of the pulmonary artery infundibulum accompanied by muscular spasms, causing obstruction of the pulmonary artery and intensifying cerebral hypoxia. Older children may complain of headaches and dizziness.