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The diagnosis is first based on the medical history and objective examination: if the mother is diabetic, smokes, over 40 years old and the baby is premature and presents cyanosis and breathing difficulties, the doctor should consider tetralogy of Fallot as a likely possibility.
The diagnostic doubt is then confirmed by three different essential diagnostic tests used to diagnose tetralogy of Fallot
Echocardiography determines the final diagnosis and usually provides sufficient information for planning surgical treatment.
In about half of all cases, tetralogy of Fallot is diagnosed before birth (prenatal diagnosis) thanks to the echocardiogram.
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Before more sophisticated techniques became available, chest X-ray was the definitive diagnostic method.
The abnormal ‘coeur-en-sabot’ (boot-shaped’ heart) appearance of a heart with tetralogy of Fallot is classically visible on chest X-ray, although most children with tetralogy may not show this finding.
The hoof (or ‘boot’ or otherwise shoe-like) shape of the heart is due to the right ventricular hypertrophy and concave pulmonary arterial segment present in tetralogy of Fallot.
The lung fields are often dark (absence of interstitial lung signs) due to decreased pulmonary blood flow.
An electrocardiogram (ECG) is one of the most important procedures for evaluating the heart.
Small electrodes are applied to specific areas of the body, near the chest, arm and neck.
Lead wires connect the electrodes to an ECG machine.
The electrical activity of the heart is then measured.
Normal electrical impulses help maintain proper blood flow by coordinating contractions in different areas of the heart.
These impulses are recorded by an ECG, which shows the speed, rhythm, intensity and timing of the electrical impulses as they travel through the heart.
Electrocardiography in children with tetralogy of Fallot shows right ventricular hypertrophy together with right axis deviation.
Right ventricular hypertrophy is noted on the ECG as high R waves in the V1 lead and deep S waves in the V5-V6 lead.
Congenital heart defects are now diagnosed with echocardiography, which is quick, inexpensive and does not involve radiation; it is also very specific and can be performed prenatally, however, it is an ‘operator-dependent’ technique so the sonographer must be experienced.
Echocardiography establishes the presence of tetralogy of Fallot by demonstrating the anatomical changes classically present in tetralogy.
Many patients are diagnosed prenatally.
With the use of colordoppler, the flow within the heart and the degree of pulmonary stenosis are measured.
In the neonatal period, careful monitoring of the ductus arteriosus is performed to ensure that there is adequate blood flow through the pulmonary valve.
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In some cases, the anatomy of the coronary artery cannot be clearly visualised using an echocardiogram.
In this case, cardiac catheterisation can be performed.
From a genetic point of view, it is important to screen for DiGeorge syndrome in all children with tetralogy of Fallot.
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