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 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 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 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 Yan Xin Liang
Pediatrics
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Tetralogy of Fallot shadow on the radiograph

Tetralogy of Fallot is the most common cyanotic heart disease in children over the age of one, accounting for about 10 percent of all congenital heart diseases. Tetralogy of Fallot includes four anatomical abnormalities: a ventricular septal defect, right ventricular outflow tract obstruction, an overriding aorta, and right ventricular hypertrophy. In patients diagnosed through X-ray, the heart size is often within normal limits, typically appearing boot-shaped, with markedly reduced pulmonary vascular markings. The aortic arch may be located on the right side, and the ascending aorta is usually dilated. Patients with rich collateral circulation display prominent pulmonary markings.

doctor image
home-news-image
Written by Chen Guang Yin
Cardiology
44sec home-news-image

Does Tetralogy of Fallot involve chromosomal abnormalities?

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.