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Tests and diagnosis
By Mayo Clinic staffAfter your baby is born, his or her doctor may immediately suspect a heart defect such as transposition of the great arteries if your baby has blue-tinged skin (cyanosis) or if your baby is having trouble breathing.
If your baby has a large atrial septal defect or ventricular septal defect, the blood may have enough oxygen initially that the bluish skin color won't be very noticeable. But, as your baby becomes more active, eventually the cyanosis will become obvious. Your baby's doctor may also suspect a heart defect if he or she hears a heart murmur — an abnormal whooshing sound caused by turbulent blood flow.
A physical exam alone isn't enough to accurately diagnose transposition of the great arteries, however. One or more of the following tests are necessary for an accurate diagnosis:
- Echocardiography. An echocardiogram is an ultrasound of the heart — it uses sound waves that bounce off your baby's heart and produce moving images that can be viewed on a video screen. Doctors use this test to diagnose transposition of the great arteries by assessing the position of the aorta and the pulmonary artery. Echocardiograms can also identify associated heart defects, such as a ventricular septal defect or an atrial septal defect.
- Chest X-ray. Although a chest X-ray doesn't provide a definitive diagnosis of transposition of the great arteries, it does allow the doctor to assess your baby's heart size and see the position of the aorta and pulmonary artery.
- Electrocardiogram. An electrocardiogram records the electrical activity in the heart each time it contracts. During this procedure, patches with wires (electrodes) are placed on your baby's chest, wrists and ankles. The electrodes measure electrical activity, which is recorded on paper.
- Cardiac catheterization. Because of its invasive nature, this procedure is typically done only when other tests, such as echocardiography, don't yield enough information to make a diagnosis. During a cardiac catheterization, the doctor inserts a thin flexible tube (catheter) into an artery or vein in your baby's groin and weaves it up to his or her heart. A dye is injected through the catheter to make your baby's heart structures visible on X-ray pictures. The catheter also measures pressure in the chambers of your baby's heart and in the blood vessels.
