Overview

Diagnosis

Congenital heart defects can be diagnosed during pregnancy or after birth. Some signs of these heart problems may be visible on a routine pregnancy ultrasound, called a fetal ultrasound. After birth, a healthcare professional may suspect a congenital heart defect if a baby shows signs such as:

  • Growth delays

  • Changes in color on the lips, tongue, or nails

  • A heart murmur heard through a stethoscope, which may indicate blood flow changes in the heart

Tests

To confirm a congenital heart defect, several tests may be performed:

  • Pulse oximetry: Measures oxygen levels in the blood using a sensor placed on the fingertip. Low oxygen may suggest a heart or lung issue.

  • Electrocardiogram (ECG or EKG): Records the heart’s electrical activity using sensors placed on the chest, arms, or legs.

  • Echocardiogram: Uses sound waves to create moving images of the heart, showing blood flow and valve function. If done before birth, it’s called a fetal echocardiogram.

  • Chest X-ray: Shows the size and shape of the heart and checks for extra fluid or blood in the lungs.

  • Cardiac catheterization: A thin, flexible tube is inserted through a blood vessel and guided to the heart to measure blood flow and heart function. Some treatments can be done during this procedure.

  • Heart MRI: Uses magnetic fields and radio waves to create detailed, 3D images of the heart. This test is often used for adolescents and adults with congenital heart defects.

Treatment

Treatment for congenital heart defects in children depends on the type and severity of the condition. Some mild defects may not require treatment or may close on their own as the child grows. More serious defects may need immediate medical care. Treatment options may include:

  • Medicines

  • Heart procedures

  • Heart surgery

  • Heart transplant

Medications

Medications can help manage symptoms or prevent complications. They may be used alone or with other treatments. Common medicines include:

  • Blood pressure drugs such as ACE inhibitors, ARBs, and beta blockers

  • Diuretics, or water pills, to reduce fluid buildup and relieve strain on the heart

  • Anti-arrhythmic drugs to control irregular heart rhythms

Surgery or other procedures

Children with severe congenital heart defects may require surgery or other interventions. Common procedures include:

  • Cardiac catheterization: Allows doctors to repair heart defects using thin tubes without open-heart surgery. Tools are guided through the catheter to fix holes or narrow areas in the heart. Some treatments may require multiple procedures over time.

  • Heart surgery: May involve open-heart or minimally invasive surgery depending on the type of defect.

  • Heart transplant: Recommended if the defect is too severe to be repaired.

  • Fetal cardiac intervention: In rare cases, a heart problem can be treated before birth to prevent complications during pregnancy.

Some children may need several procedures or surgeries throughout life. Lifelong follow-up care with a cardiologist is essential to monitor heart health and manage any complications.


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