Symptoms & Diagnosis of Congenital Heart Defects

Updated:Feb 15,2013

Nurse listening to young girl's heart in doctor's officeCongenital heart defects are often diagnosed in infancy, or even before birth. But some defects are harder to detect than others and may not be diagnosed until much later in childhood or even adulthood.

Diagnostic Evaluation

In each of the sections on specific congenital heart problems, regular follow-up with a cardiologist is recommended. This section describes the types of tests that often will be performed. Cardiologists will take your medical history and perform a physical exam. They may also order an electrocardiogram (called an EKG or ECG), chest X-ray, or an echocardiogram (ultrasound movie of the heart). Blood tests are particularly important in patients with cyanosis and single ventricle hearts treated with Fontan operations.

The cardiology staff will talk to you about each test. Don't hesitate to ask the cardiologist, nurse or technician to explain these tests. After your tests are completed, your cardiologist will explain the results and whether further care is needed.

Sometimes the initial tests don't provide enough information for a complete diagnosis and more tests may be needed. These include cardiac catheterization and angiography, magnetic resonance imaging (MRI) and CT scanning, Holter recording and stress testing.

Diagnosing Children

Severe heart disease generally becomes evident during the first few months after birth. Some babies are blue or have very low blood pressure shortly after birth. Other defects cause breathing difficulties, feeding problems, or poor weight gain. Minor defects are most often diagnosed on a routine medical check up. Minor defects rarely cause symptoms. While most heart murmurs in children are normal, some may be due to defects.

If the heart problem is significant, your child's pediatrician or family physician will likely refer your child to a pediatric cardiologist. Pediatric cardiologists are trained to diagnose and treat heart problems in infants, children and young adults. They have the training and equipment to find out what tests and treatments your child will need, and how often your child will need heart checkups in the future.

Learn the common tests associated with congenital heart defects.


 Congenital Heart Defects

Ask the Pediatric Cardiologist

Find answers to common questions about children and heart disease.