How Are Congenital Heart Defects Diagnosed

Doctors usually diagnose congenital heart defects during pregnancy or within the first few months after birth. Some children with less severe defects are not diagnosed until they are older and more demands are put on their hearts. Others are not diagnosed until they are adults.

If your child's doctor suspects a congenital heart defect, he or she will refer your child to a specialist who treats heart problems in children. The specialist, a pediatric cardiologist, will take a family and medical history, do a physical exam, and order several tests.

Physical Exam

During the physical exam, the doctor:

• Listens to your child's heart with a stethoscope for a heart murmur
• Looks for signs of illness or physical problems, such as bluish color of skin and lips, shortness of breath, rapid breathing, and delayed growth
• Listens to your child's lungs

Tests

An echocardiogram is the test most often used to diagnose congenital heart defects. This test uses sound waves to create a picture of the heart. An echocardiogram helps diagnose heart failure and problems with how the heart is formed.

During pregnancy, if your doctor suspects that your baby has a congenital heart defect, a special test called a fetal echocardiogram can be done. This test uses sound waves to create a picture of the baby's heart while he or she is still in the womb. The test is usually done during the fifth month of pregnancy. If your child is diagnosed with a congenital heart defect before birth, your doctor can plan tretment before the baby is born.

Other tests used to help diagnose congenital heart defects include:

• ECG or EKG (electrocardiogram). An ECG test measures the rate and regularity of your child's heartbeat.
• Chest x ray. A chest x ray takes a picture of your child's heart and lungs. It can show if the heart is enlarged or if there is fluid in the lungs.
• Pulse oximetry (ok-SIM-eh-tree). This test uses a sensor to see how well your child's lungs are passing oxygen to the blood and whether there is any mixing of oxygen-rich and oxygen-poor blood. The sensor is placed on the child's fingertip or toe (like an adhesive bandage). A small computer unit shows the amount of oxygen in the blood through the skin. The test does not hurt.
• Cardiac catheterization. In this test, a thin flexible tube is passed through an artery or vein at the upper thigh (groin) or in the arm to reach the heart. With the assistance of x rays, the doctor can then see your child's blood vessels and heart. The catheter also measures the pressure inside the heart and blood vessels and can determine if blood is mixing between the two sides of the heart. Sometimes, a dye that can be seen by x ray is injected into the heart. This enables the doctor to see the flow of blood throughout the heart and blood vessels.

Source http://www.nhlbi.nih.gov/