1-Month-Old Baby. What is your diagnosis?
A – Ventricular septal defect
B – Tetralogy of Fallot
C – Truncus arteriosus
D – Transposition of the great arteries
Correct answer is B) : Tetralogy of Fallot
Tetralogy of Fallot (TOF) is a cardiac anomaly that refers to a combination of four related heart defects that commonly occur together. The four defects are:
- Ventricular septal defect (VSD) − a hole between the right and left pumping chambers of the heart
- Overriding aorta − the aortic valve is enlarged and appears to arise from both the left and right ventricles instead of the left ventricle as in normal hearts
- Pulmonary stenosis − narrowing of the pulmonary valve and outflow tract or area below the valve that creates an obstruction (blockage) of blood flow from the right ventricle to the pulmonary artery
- Right ventricular hypertrophy − thickening of the muscular walls of the right ventricle, which occurs because the right ventricle is pumping at high pressure.
The pulmonary stenosis and right ventricular outflow tract obstruction seen with tetralogy of Fallot usually limits blood flow to the lungs. When blood flow to the lungs is restricted, the combination of the ventricular septal defect and overriding aorta allows oxygen-poor blood (“blue”) returning to the right atrium and right ventricle to be pumped out the aorta to the body.
This “shunting” of oxygen-poor blood from the right ventricle to the body results in a reduction in the arterial oxygen saturation so that babies appear cyanotic, or blue. The cyanosis occurs because oxygen-poor blood is darker and has a blue color, so that the lips and skin appear blue.
The extent of cyanosis is dependent on the amount of narrowing of the pulmonary valve and right ventricular outflow tract. A narrower outflow tract from the right ventricle is more restrictive to blood flow to the lungs, which in turn lowers the arterial oxygen level since more oxygen-poor blood is shunted from the right ventricle to the aorta.