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Most commonly, tetralogy of Fallot is discovered early in life when symptoms, such as cyanosis, or the presence of a heart murmur, indicate the possibility of a heart defect. A physician uses a stethoscope to listen for a heart murmur during a physical examination. Any suspicious sounds will prompt the physician to order tests, which may include:
- Echocardiogram of the heart. This ultrasound test uses sound waves to track the structure and function of the heart. A moving image of the patient’s beating heart is played on a video screen, where a physician can study the heart’s thickness, size and function. The image also shows the motion pattern and structure of the four heart valves, revealing any potential leakage (regurgitation), blockage (stenosis), or deformity. During this test, a Doppler ultrasound may also be done to evaluate blood flow. This is the definitive test to diagnose tetralogy of Fallot.
- Electrocardiogram (EKG). An EKG is a recording of the heart’s electrical activity as a graph on a moving strip of paper or video monitor. The highly sensitive electrocardiograph machine helps detect heart irregularities, disease and damage by measuring the heart’s rhythms and electrical impulses. This test is only slightly helpful in the diagnosis of this condition as it is very non-specific.
- Blood tests. Tests that reveal oxygen levels and blood cell counts. Blood tests may also be used to test for a frequently associated chromosome abnormality involving chromosome 22.
- Chest x-ray. A radiation-based imaging that offers the physician a picture of the general size, shape, and structure of the heart and lungs. This may reveal congestion or enlargement of the heart muscle, which could be a sign of a heart defect. It may also help in demonstrating the decreased blood flow to the lungs in many of these babies.
- Cardiac catheterization. A common, minimally invasive procedure in which a physician inserts a small tube called a catheter into a patient’s blood vessels and advances the tube toward the heart. This procedure allows the cardiologist to take special x-ray of the inside of the heart and blood vessels, which gives a clear picture of the structures in the patient’s heart. It also allows for the measurement of function of the various cardiac structures. This is rarely necessary nowadays for a diagnosis of tetralogy of Fallot.
In some cases, tetralogy of Fallot is diagnosed soon after birth. Newborns with severe cyanosis at birth are usually given supplemental oxygen to rule out lung defects as the cause of poor oxygen circulation – supplemental oxygen improves the symptoms of newborns with lung defects. This is called a hyperoxia test. Newborns who remain cyanotic during the hyperoxia test may require further testing to diagnose the nature of their heart defect.
In some other cases, the defect may be diagnosed during pregnancy when the components of the defect are seen on a routine ultrasound. | 
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