A congenital heart defect is a structural malformation of the heart that is present at birth. Approximately 1 percent of all children born have congenital heart disease. The severity of congenital heart defects varies from defects that do not require surgical repairs to complex problems that require multiple surgeries.

The cause of congenital heart disease is unknown; many believe that multiple environmental and genetic factors contribute to the failure of the heart to develop normally. Most of these factors are beyond the control of the mother. Surgery often cures or improves many congenital heart defects.

Learn more about the following types of congenital heart defects:

• Atrial septal defect

• Tetralogy of Fallot

• Transposition of the great arteries

• Ventricular septal defect

Symptoms

The signs and symptoms of congenital heart defects vary depending on the type of defect. Common symptoms include:

• Shortness of breath, especially during feeding or crying

• Sweating during feeding

• Blueness of the lips and nail beds (known as cyanosis) that usually worsens with crying

• Poor weight gain

Diagnosis

Several tests are used to diagnose congenital heart defects:

• Chest X-ray (CXR): This noninvasive test determines heart size, contour and position, and provides necessary information about the lungs.

• Electrocardiogram (EKG): A noninvasive test that evaluates the electrical activity of the heart, an EKG determines the heart rate, rhythm and pattern.

• Echocardiogram (Echo): This noninvasive test uses sound waves to identify the heart’s structure. An Echo may require sedation in younger patients.

• Lab tests: Several lab tests may be ordered to learn more about the defect and determine if the patient is well enough for surgery:

  • Complete Blood Count (CBC) measures different components of the blood such as white blood cell count and hemoglobin level.

  • Chemistry 7 (Chem 7) measures electrolyte levels in the blood such as potassium and sodium.

  • Prothrombin and Partial Prothrombin Time (PT/PTT) determine the clotting time of the blood.

  • Type and Cross-match (T&C) determine blood type.

  • Urinalysis (UA) measures components of urine.
     

• Cardiac catheterization: Although cardiac catheterization is an invasive procedure, it is not considered surgery. Working in the catheterization laboratory, a cardiologist places a catheter in a large vein of the arm, leg or neck, and gently guides it into the heart. Dye is injected into the catheter and pictures are taken of the heart’s valves, chambers and blood vessels. During the procedure, intracardiac pressures may be measured, and certain interventions can be performed such as opening/closing blood vessels or holes in the heart. This procedure requires sedation or general anesthesia.

• Magnetic resonance imaging test (MRI): Using radio waves in a magnetic field, this noninvasive test identifies the heart’s structure. Sedation may be required for younger patients.

• Exercise stress test: This test determines how the heart works at rest and during periods of stress (exercise). The patient will be evaluated on a treadmill and/or exercise bicycle by a technician who monitors the heart rate, rhythm and oxygen used while exercising.

• A holter monitor (24-hour cardioscan): This procedure uses a small tape recording device that is worn by the patient. It continuously monitors electrical activity.