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

40sec

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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 Yan Xin Liang

Pediatrics

1min 20sec

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Is Tetralogy of Fallot serious?

Tetralogy of Fallot is the most common cyanotic congenital heart disease in children, accounting for about 10% of congenital heart diseases. It is a complex type of congenital heart condition, consisting of four defects: a ventricular septal defect, right ventricular outflow tract obstruction, overriding aorta, and right ventricular hypertrophy. Due to these four malformations, children will experience cyanosis, poor exercise tolerance, and may quickly become fussy or emotionally disturbed with physical activity. This can lead to noticeable worsening of dyspnea and cyanosis. They may also exhibit a preference for squatting, as squatting can decrease the return blood volume to the heart, increase systemic vascular resistance, and temporarily relieve hypoxic symptoms. Other symptoms include clubbing, paroxysmal hypoxia attacks which are more common in infants. These attacks can be triggered by crying, emotional excitement, anemia, infections, etc., and suddenly manifest as paroxysmal breathing difficulties. In severe cases, there can be fainting, convulsions, and even death. Therefore, these clinical manifestations are very serious, making this disease a significantly dangerous condition.

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Written by Chen Guang Yin

Cardiology

34sec

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Can someone with Tetralogy of Fallot have a second child?

Tetralogy of Fallot is a congenital cardiac defect that has not been found to have a definite genetic relationship, meaning no chromosomal abnormalities have been discovered. However, congenital heart disease does tend to occur within families to a certain extent, indicating some level of familial predisposition. The primary cause, however, is believed to be related to viral infections during the first three months of pregnancy or the use of certain medications. Therefore, we believe that parents of a child with Tetralogy of Fallot can consider having a second child.

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Written by Hu Qi Feng

Pediatrics

32sec

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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 Yan Xin Liang

Pediatrics

51sec

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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.