Is Tetralogy of Fallot hereditary?

Written by Yan Xin Liang
Pediatrics
Updated on September 13, 2024
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Tetralogy of Fallot is a common cyanotic congenital heart disease in children, accounting for about ten percent of congenital heart diseases. It primarily consists of four abnormalities: ventricular septal defect, right ventricular outflow tract obstruction, overriding aorta, and left ventricular hypertrophy. Congenital heart disease is not a hereditary disease; it is not controlled by genes, mainly due to abnormal development of the heart and blood vessels during fetal development, leading to cardiovascular malformations. Thus, this disease is not hereditary.

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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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Tetralogy of Fallot Emergency Measures

Generally, one should often drink water to prevent infection, prevent dehydration and complications. Infants and young children should be especially careful in their care, to avoid episodes of paroxysmal hypoxia. In mild cases of hypoxic episodes, placing them in a knee-chest position can alleviate the symptoms. In severe cases, oxygen should be administered immediately, along with the appropriate drug treatment. If the episodes cannot be effectively controlled with medication, emergency surgical intervention may be necessary. With the continuous improvement in surgical techniques this year, the mortality rate for curative surgeries has been decreasing.

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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 Yan Xin Liang
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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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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.