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Tests and diagnosis
By Mayo Clinic staff
Tests to diagnose a congenital heart defect
If it's possible your child has a heart defect, your doctor or your child's doctor may order several tests to see if your child has a heart problem. In addition to a regular physical exam, these could include:
- Fetal echocardiogram. This test allows your doctor to see if your child has a heart defect before he or she is born. In this test, your doctor performs an ultrasound. The sound waves from the ultrasound are used to create a picture of your baby's heart. Doctors can use the information from the test to diagnose the condition and plan treatment.
- Echocardiogram. Your child's doctor may use a regular echocardiogram to diagnose a congenital heart defect after your child has been born. In this noninvasive test, your child's doctor performs an ultrasound to produce images of the heart. An echocardiogram allows the doctor to see your child's heart in motion. The doctor can use these images to identify abnormalities in the heart muscle and valves.
- Electrocardiogram. This noninvasive test records the electrical activity of your child's heart and can help diagnose heart defects or rhythm problems. Electrodes connected to a computer and printer are placed on your baby's chest and show waves that indicate how your child's heart is beating.
- Chest X-ray. Your child may have a chest X-ray to see if the heart is enlarged, or if the lungs have extra blood or other fluid in them. These could be signs of heart failure.
- Pulse oximetry. This test can show your child's doctor how much oxygen is in your child's blood. A sensor is attached to the end of your child's finger that pricks the skin to draw a small amount of blood. The sensor then records the amount of oxygen in your child's blood. Too little oxygen could suggest your child has a heart problem.
- Cardiac catheterization. In this test, a thin, flexible tube (catheter) is inserted into a blood vessel at your baby's groin or arm and guided through it into the heart. Through catheterization, doctors can do further testing to evaluate congenital heart defects found during echocardiography. In certain defects, treatment procedures can be done during cardiac catheterization to improve the heart's function.
Diagnosing your child's heart defect
In all, there are more than 35 congenital heartdefects, falling mainly into these categories:
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Holes in the heart. Several heart defects can be thought of as holes in the walls between heart chambers or between major blood vessels leaving the heart. These holes allow oxygen-rich and oxygen-poor blood to mix. If the holes are large and a lot of blood is mixed, the blood that ends up being circulated through your child's body is not carrying as much oxygen as normal. Not having enough oxygen in the blood can cause your child's skin or fingernails to appear blue in color. Your baby may also develop signs and symptoms of congestive heart failure, such as shortness of breath, irritability and leg swelling, because both oxygen-rich and oxygen-poor blood are flooding (overcirculating) the lungs.
Examples of hole defects include ventricular septal defect, which is a hole in the wall between the right and left ventricles; atrial septal defect, a hole between the upper heart chambers; and patent ductus arteriosus (DUK-tus ahr-teer-e-O-sus), an opening between the pulmonary artery and the aorta. Within a few hours after birth, the patent ductus arteriosus should close. If it doesn't, oxygen-rich blood intended for the body is directed back to the lungs, meaning your child's brain and the rest of his or her body won't get enough oxygen.
- Obstructed blood flow. When blood vessels or heart valves are narrow because of a heart defect, the heart must work harder to pump blood through them. Among the most common of this type defect is pulmonary stenosis (stuh-NO-sis), a narrowing of the pulmonary valve, through which blood passes from the right ventricle to the pulmonary artery. Another obstructive defect, aortic stenosis, is a narrowing of the aortic valve, through which blood passes from the left ventricle into the aorta. The narrowed valve forces the heart muscle to work harder, eventually leading to thickening and enlarging of the muscle.
- Abnormal blood vessels. Several congenital heart defects involve incorrectly formed or positioned blood vessels going to and from the heart. For example, transposition of the great arteries occurs when the pulmonary artery and the aorta are on the wrong sides of the heart. This is a serious and immediately life-threatening defect.
- Heart valve abnormalities. If the heart valves can't open and close correctly, blood can't flow smoothly. Examples include Ebstein's anomaly, in which the tricuspid valve is malformed and often leaks, and pulmonary atresia, in which a piece of heart tissue blocks normal blood flow to the lungs. Both defects prevent oxygen-poor blood from circulating to the lungs.
- A combination of defects. Some infants are born with several heart defects. For example, tetralogy of Fallot is a combination of four defects: a hole in the ventricular septum, a narrowed passage between the right ventricle and pulmonary artery, a shift in the connection of the aorta to the heart, and thickened muscle in the right ventricle.
- Congenital heart defects. National Heart Lung and Blood Institute. http://www.nhlbi.nih.gov/health/dci/Diseases/chd/chd_all.html. Accessed Sept. 8, 2008.
- Congenital heart defects in children fact sheet. American Heart Association. http://www.americanheart.org/presenter.jhtml?identifier=12012. Accessed Sept. 8, 2008.
- Diabetes and pregnancy frequently asked questions. Centers for Disease Control and Prevention. http://www.cdc.gov/ncbddd/bd/diabetespregnancyfaqs.htm#whatcanhappentoababy. Accessed Sept. 18, 2008.
