Tetralogy of Fallot

It is a disease that usually get diagnosed either at the time of birth or during first year of life, but it is not strange that it is detected in adulthood, if the defects are not serious and the symptoms are subtle.

More than seven decades have passed since the first person in the world with TF underwent a surgical intervention, which was successful, palliative of the disease (a 15-month-old girl).

Produces 4 types of heart defects

The Tetralogy of Fallot (TF) is a congenital heart disease the best known and most treated, which includes the following four heart defects:

• Interventricular septal defect (VSD: ventricular septal defect): "Hole" in the central wall of the heart that separates both ventricles, the two lower cavities of the organ, where the poorly oxygenated blood that reaches the heart is abnormally intermingled with the richly oxygenated blood that leaves the heart.
• Thrust of the aortic artery: the aorta artery, which under normal conditions emanates from the left ventricle and carries oxygenated blood to the rest of the body's organs, is "straddled" at the outlet of both ventricles and then collects low-oxygenated blood from the right ventricle, mixing it with the oxygenated from the left.
• Obstruction in the right ventricular outflow tract (infundibular-pulmonary valve-pulmonary artery stenosis): narrowing of the pulmonary valve, the area below the valve, or the pulmonary artery.
• Right ventricular hypertrophy: thickening of the muscular wall of the right ventricle to be able to counteract the increase in pressure at its outlet.

Causes

As in most congenital heart diseases, the causes of TF are not exactly known and the largest number of cases present as sporadic cases. However, specific genetic alterations (eg chromosome 22) associated with the disease have been suggested.

Symptoms of Tetralogy of Fallot

The determinant of the appearance of the greatest number of symptoms is the degree of pulmonary obstruction. When the obstruction is severe and a duct called the “ductus arteriosus” has closed after birth, the manifestations of hypoxia (lack of oxygen) and acidosis (acidification of the blood) appear already in the first hours or days of life. You can auscultate a systolic heart murmur and appreciate cyanosis (bluish tint) to the skin. They may appear (fainting) and sudden hypoxic attacks, accompanied by significant abrupt cyanosis.

Signs such as weight loss, irritability, fatigue with meals, etc. may also be observed.

Diagnosis

The definitive diagnosis is given by echocardiography (Gold Standard test), so the collaboration of the pediatric cardiologist is obviously essential. Teladoc Health Consultant Physician