Testing & Diagnosis for Tetralogy of Fallot (TOF) with Pulmonary Atresia in Children

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At Children’s Hospital Boston, we know that the first step in treating your child is forming an accurate, complete and timely diagnosis.

The exam

If your newborn baby was born with a bluish tint to his skin, or if your child is experiencing symptoms of a congenital heart defect, your pediatrician will refer you to a pediatric cardiologist (and/or neonatologist), who will perform a physical exam. This specialist will listen to your baby’s heart and lungs, measure the oxygen level in his blood (non-invasively) and make other observations that help to determine the diagnosis.

Your child’s cardiologist will also investigate whether he has a heart murmur—a noise heard through the stethoscope that’s caused by the turbulence of blood flow. The location in the chest where the murmur is best heard, as well as the sound and character of the murmur itself, will give the cardiologist an initial idea of the kind of heart problem your baby may have.

The tests

Your child’s doctor will also use some combination (not necessarily all) of the following medical tests to diagnose ToF/PA:

  • electrocardiogram (EKG): An EKG is used to evaluate the electrical activity of your child’s heart. An EKG is usually the initial test for evaluating the causes of symptoms and detecting heart abnormalities, including ToF. It is performed by placing electrodes on the arms, legs and chest to record the electrical activity. The test takes five minutes or less and involves no pain or discomfort. 
  • echocardiogram (cardiac ultrasound): An echocardiogram evaluates the structure and function of your child’s heart using electronically recorded sound waves that produce a moving picture of the heart and heart valves. No discomfort is involved. It takes 30-60 minutes. Some younger children may need to be sedated. An ultrasound can also detect ToF/PA prenatally.
  • cardiac catheterization: This invasive procedure (a procedure that penetrates the body) performed under sedation or anesthesia provides detailed visual information and measurements about the structures inside the heart. Blood pressure and oxygen measurements are taken in the four chambers of the heart, as well as the pulmonary artery and aorta. Moving pictures are taken of the heart and blood vessels using x-ray dye to further observe their structure.
  • cardiac magnetic resonance imaging (MRI): A cardiac MRI is a non-invasive test using 3-D imaging technology produced by magnets to accurately determine the blood flow and functioning of your child’s heart. No pain is involved, although an IV may be needed. It takes about an hour. Children under 10 yrs of age usually need anesthesia.
  • chest CT scan: a non-invasive procedure that uses x-ray equipment and powerful computers to create detailed, cross-sectional images of your child's heart and chest anatomy
  • chest x-ray: A conventional chest x-ray will evaluate the size and spatial relationships of the heart within the child’s chest. It takes a few moments. There is no pain or discomfort.
  • pulse oximetry: a non-invasive test (a test that doesn’t require penetrating the body) to measure the amount of oxygen in the blood
We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”
- Sandra L. Fenwick, President and CEO

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