Tetralogy of Fallot (TOF) is a congenital heart defect which is classically understood to involve four anatomical abnormalities (although only

three of them are always present). It is the most common cyanotic heart defect, and the most common cause of blue baby syndrome.
Tetralogy of Fallot is a rare, complex heart defect. It occurs in about 5 out of every 10,000 babies. The defect affects boys and girls equally.

Signs and symptoms

Digital clubbing with cyanotic nail beds in an adult with tetralogy of Fallot

Tetralogy of Fallot results in low oxygenation of blood due to the mixing of oxygenated and deoxygenated blood in the left ventricle via the VSD and preferential flow of the mixed blood from both ventricles through the aorta because of the obstruction to flow through the pulmonary valve. This is known as a right-to-left shunt. The primary symptom is low blood oxygen saturation with or without cyanosis from birth or developing in the first year of life. If the baby is not cyanotic then it is sometimes referred to as a "pink tet".[3] Other symptoms include aheart murmur which may range from almost imperceptible to very loud, difficulty in feeding, failure to gain weight, retarded growth and physical development, dyspnea on exertion, clubbing of the fingers and toes, and polycythemia. Children with tetralogy of Fallot may develop "tet spells". The precise mechanism of these episodes is in doubt, but presumably results from a transient increase in resistance to blood flow to the lungs with increased preferential flow of desaturated blood to the body. Tet spells are characterized by a sudden, marked increase in cyanosis followed by syncope, and may result in hypoxic brain injury and death. Older children will often squat during a tet spell, which increases systemic vascular resistance and allows for a temporary reversal of the shunt.

Cause
Its cause is thought to be due to environmental or genetic factors or a combination. It is associated with chromosome 22 deletions and DiGeorge syndrome. Specific genetic associations include: It occurs slightly more often in males than in females. Embryology studies show that it is a result of anterior malalignment of the aorticopulmonary septum, resulting in the clinical combination of a VSD, pulmonary stenosis, and an overriding aorta. Right

ventricular hypertrophy results from this combination, which causes resistance to blood flow from the right ventricle.

Overview
Tetralogy of Fallot involves four heart defects:

A large ventricular septal defect (VSD) Pulmonary (PULL-mun-ary) stenosis Right ventricular hypertrophy (hi-PER-tro-fe) An overriding aorta

Ventricular Septal Defect

The heart has an inner wall that separates the two chambers on its left side from the two chambers on its right side. This wall is called a septum. The septum prevents blood from mixing between the two sides of the heart. A VSD is a hole in the septum between the heart's two lower chambers, the ventricles. The hole allows oxygen-rich blood from the left ventricle to mix with oxygen-poor blood from the right ventricle.

Pulmonary Stenosis
This defect involves narrowing of the pulmonary valve and the passage from the right ventricle to the pulmonary artery. Normally, oxygen-poor blood from the right ventricle flows through the pulmonary valve and into the pulmonary artery. From there, the blood travels to the lungs to pick up oxygen. In pulmonary stenosis, the pulmonary valve cannot fully open. Thus, the heart has to work harder to pump blood through the valve. As a result, not enough blood reaches the lungs.

Right Ventricular Hypertrophy

With this defect, the muscle of the right ventricle is thicker than usual. This occurs because the heart has to work harder than normal to move blood through the narrowed pulmonary valve.

Overriding Aorta
This defect occurs in the aorta, the main artery that carries oxygen-rich blood from the heart to the body. In a healthy heart, the aorta is attached to the left ventricle. This allows only oxygen-rich blood to flow to the body. In tetralogy of Fallot, the aorta is located between the left and right ventricles, directly over the VSD. As a result, oxygen-poor blood from the right ventricle flows directly into the aorta instead of into the pulmonary artery.

Cross-Section of a Normal Heart and a Heart With Tetralogy of Fallot