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 Yan Xin Liang
Pediatrics
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Tetralogy of Fallot is caused by what?

Tetralogy of Fallot is the most common cyanotic congenital heart disease in childhood, consisting of four abnormalities: ventricular septal defect, obstruction of the right ventricular outflow tract, overriding aorta, and hypertrophy of the right ventricle. Congenital heart disease generally stems from abnormal cardiovascular development during the fetal period, resulting in a complex vascular malformation. The occurrence of cardiovascular malformations is mainly due to the interaction of genetic and environmental factors. The causes of congenital heart disease have not been fully clarified yet, but it is important to reinforce prenatal care, especially by actively preventing viral infections early in pregnancy and avoiding certain high-risk factors related to the disease to prevent congenital heart disease in children.

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Written by Yao Li Qin
Pediatrics
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Tetralogy of Fallot electrocardiogram manifestations

Tetralogy of Fallot is a common type of cyanotic congenital heart disease, primarily composed of four structural components: first, a ventricular septal defect; second, an overriding aorta; third, hypertrophy of the right ventricle; and fourth, obstruction of the right ventricular outflow tract. When performing an electrocardiogram (ECG) on Tetralogy of Fallot, it often shows right ventricular hypertrophy, and can also display right atrial hypertrophy. Initially, there may be hypertrophy of both the left and right ventricles. As the child develops cyanosis, it progressively evolves into hypertrophy of the right ventricle. These are the typical ECG findings in Tetralogy of Fallot.

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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 Tong Peng
Pediatrics
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Does Tetralogy of Fallot easily lead to heart failure?

Tetralogy of Fallot often leads to symptoms of heart failure because it is a severe congenital disease. Affected children tend to present with cyanosis of the lips, impaired growth and development, and a simple echocardiography can reveal specific indicators such as aorta overriding, pulmonary stenosis, right ventricular hypertrophy, and ventricular septal defect. These children have limited lung and heart function, making them prone to increased cardiac load and symptoms of heart failure following infections or physical activity. Therefore, early surgical treatment is necessary for these children to prevent recurrent infectious diseases and heart failure, which can affect their normal growth and development. Additionally, it is crucial to enhance nutrition and exercise in their daily lives to boost their immune system. For Tetralogy of Fallot, early detection and treatment are essential.

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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.