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 Yao Li Qin
Pediatrics
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Can children with Tetralogy of Fallot be desired?

Tetralogy of Fallot is a relatively severe congenital heart disease. If it is detected during the fetal period, it is not an indication for termination of pregnancy. In other words, one should not choose to not have the baby simply because it has Tetralogy of Fallot. However, it is crucial that the baby undergoes a timely echocardiogram after birth to assess the condition and undergo surgery as soon as possible. Currently, pediatric surgery, particularly cardiothoracic surgery, is developing very rapidly in our country. With multiple surgeries, Tetralogy of Fallot can be surgically cured. Therefore, having a child with Tetralogy of Fallot is not an indication for termination of pregnancy.

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Written by Hu Qi Feng
Pediatrics
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The reason for squatting in Tetralogy of Fallot

The reason for squatting is that when squatting, the lower limbs are bent, which reduces the amount of blood returning to the heart through the veins, thereby reducing the load on the heart. At the same time, the arteries in the lower limbs are compressed, which increases the resistance in the systemic circulation and reduces the right-to-left shunt volume, allowing temporary relief from hypoxia symptoms. Babies who cannot walk often like to be held by adults in a position that bends the lower limbs to reduce the amount of blood returning to the heart. This frequently occurs during walking and playing, often characterized by brief periods of squatting.

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Written by Hu Qi Feng
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
Pediatrics
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Tetralogy of Fallot Common Symptoms

The clinical manifestations of Tetralogy of Fallot include, firstly, cyanosis as the primary clinical symptom. The degree and onset of cyanosis are related to the severity of pulmonary stenosis, and it often appears in areas with abundant capillaries such as lips, fingers, toes, nail beds, and bulbar conjunctiva. Secondly, squatting symptoms are common among children; they often spontaneously squat for a while during walking or playing. Squatting, with the legs bent, reduces the venous return and thus decreases the load on the heart, temporarily relieving symptoms of hypoxia by reducing the right-to-left shunt. Thirdly, clubbing occurs due to long-term hypoxic conditions, which can cause capillary dilation and proliferation in the fingers and toes, and the local soft tissues and bones also grow and enlarge; fourthly, paroxysmal hypoxic attacks, which are most common in infants, can be triggered by breastfeeding, crying, emotional excitement, or anemia. These attacks suddenly occur and can lead to severe symptoms including difficulty breathing, fainting, convulsions, and even death.

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Written by Hu Qi Feng
Pediatrics
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Can Tetralogy of Fallot be cured?

With the continuous improvement of surgical techniques, the cure rate for total corrective surgery for Tetralogy of Fallot is increasing, and the mortality rate is continuously decreasing. Mild cases may have the opportunity to undergo a one-stage corrective surgery between the ages of five and nine. However, for patients with significant clinical symptoms, palliative surgery should be performed within six months after birth. Once the general condition improves and pulmonary vasculature develops, they can proceed with the corrective surgery. Overall, the cure rate for Tetralogy of Fallot is continuously improving.