Diagnosis of Congenital Heart Defects

Depending on the type and severity of the congenital heart defect, diagnosis can occur before birth, at (or shortly after) birth, during childhood, or, in some cases, as late as adolescence. If the child's pediatrician suspects he or she has a congenital heart defect, the child usually is referred to a pediatric cardiologist. A pediatric cardiologist is a physician who specializes in the diagnosis and treatment of heart diseases in children.

Medical History and Physical Examination to Diagnose Congenital Heart Defects

During the child's first appointment with the pediatric cardiologist, parents and caregivers will be asked detailed questions about the pregnancy and about the child's personal and family medical history.

The initial physical examination involves taking the child's blood pressure and heart rate and listening to his or her heart and lungs with a stethoscope. The pediatric cardiologist also may look for signs of growth delays and examine the child's skin and fingers for signs of cyanosis (bluish color caused by a lack of oxygen in the blood).

A pulse oximeter often is used to measure the amount of oxygen in the child's blood. This sensor fits over the finger or toe, is non-invasive and painless, and takes a minute or two to give a reading.

Diagnostic Tests for Congenital Heart Defects

Several imaging tests may be used to diagnose congenital heart defects. Parents and caregivers should speak with the child's physician about the risks and benefits of all recommended diagnostic procedures.

A chest x-ray may be used to determine if the heart is enlarged and whether there is extra blood or fluid in the lungs. An electrocardiogram, also called ECG or EKG, also may be performed. An EKG is a non-invasive and painless test that is used to detect the electrical impulses of the heart. This test involves placing sensors on the chest, arms, and legs. The sensors gently stick to the skin and are attached by wires to a device that records electrical activity.

An echocardiogram is an imaging test that can give detailed information about the speed and direction of blood flow within the heart. Also called a "cardiac echo," this test uses sound waves and is similar to a ultrasound (sonogram), which may be performed during pregnancy. Echocardiograms are non-invasive and painless. Fetal echocardiograms are used to examine the heart before birth.

Cardiac catheterization is another diagnostic procedure that can give highly-detailed information about how the heart is functioning. In this test, a catheter (thin, flexible tube) is guided through a small incision in the neck or groin into a blood vessel and to the heart. Various instruments can be attached to the end of the catheter to obtain information.

In most cases, sedation and local anesthesia are used during cardiac catheterization. The procedure is performed in a hospital or outpatient surgery clinic by a pediatric cardiologist. Although cardiac catheterization is safe, parents should ask the physician about risks that may be associated with the child's particular case. Cardiac catheters also may be used in the repair of congenital heart defects.

Publication Review By: Stanley J. Swierzewski, III, M.D.

Published: 18 Nov 2008

Last Modified: 08 Sep 2015