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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Written by Chen Guang Yin
Cardiology
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Is it normal after the complete repair of Tetralogy of Fallot?

Tetralogy of Fallot is a serious congenital heart defect characterized by a ventricular septal defect, pulmonary stenosis, and problems with right ventricular obstruction. It is a congenital disease that can cause hypoxia throughout the body, especially as age increases, the symptoms tend to worsen. After the corrective surgery for Tetralogy of Fallot, it does not mean that the patient is completely normal. Their lifespan is still somewhat impacted. They will not be like patients with simpler congenital heart diseases such as only a ventricular septal defect or atrial septal defect, who can achieve a natural lifespan. For these individuals, their lifespan is still impacted to some extent. As they age post-surgery, some complications may arise, including sudden death, and some may require a second surgery.

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Written by Yan Xin Liang
Pediatrics
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Is tetralogy of Fallot a chromosomal problem?

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 Clinical Characteristics

Tetralogy of Fallot is the most common cyanotic congenital heart disease in infancy, accounting for about 12% of all congenital heart diseases. It is caused by malformations of four heart structures: 1. right ventricular outflow tract obstruction; 2. ventricular septal defect; 3. overriding aorta; 4. right ventricular hypertrophy. Its clinical manifestations may include cyanosis, squatting symptoms, clubbed fingers, and paroxysmal hypoxia attacks. Physical examinations generally show delayed development, a prominent precordial area, and at the second to fourth rib interspace along the left sternal margin, a grade 2 to 3 rough systolic murmur can be heard.

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Written by Hu Qi Feng
Pediatrics
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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.