Overview
Diagnosis
A congenital heart defect may be diagnosed during pregnancy or after birth. Some heart defects can be seen on a routine fetal ultrasound.
After birth, a healthcare professional may suspect a congenital heart defect if the baby shows:
• Growth delays
• Color changes in the lips, tongue, or nails
• Heart murmurs detected with a stethoscope. Most murmurs are harmless, but some may indicate a heart defect
Tests to diagnose a congenital heart defect include:
• Pulse oximetry. A sensor on the fingertip measures oxygen in the blood. Low oxygen may indicate a heart or lung problem
• Electrocardiogram (ECG or EKG). Electrodes attached to the chest, and sometimes arms or legs, record the heart’s electrical activity
• Echocardiogram. Sound waves create images of the heart in motion. A fetal echocardiogram can be done before birth
• Chest X-ray. Shows the heart and lungs, detecting enlargement or excess fluid, which may indicate heart failure
• Cardiac catheterization. A thin, flexible tube is inserted into a blood vessel and guided to the heart to evaluate blood flow and heart function. Some repairs can be performed during this procedure
• Heart MRI. Uses magnetic fields and radio waves to create detailed 3D images of the heart, useful in adolescents and adults
Treatment
Treatment depends on the type and severity of the defect. Some congenital heart defects may not require treatment, while others need prompt intervention.
Treatment options include:
Medicines:
• Blood pressure drugs, including ACE inhibitors, ARBs, and beta blockers
• Diuretics, or water pills, to remove excess fluid and reduce strain on the heart
• Anti-arrhythmics to control irregular heartbeats
Heart procedures and surgeries:
• Cardiac catheterization. Catheters can repair certain defects without open-heart surgery, such as fixing holes or narrowing in the heart. Some procedures require multiple steps over time
• Heart surgery. Open-heart or minimally invasive surgery may be needed depending on the defect
• Heart transplant. Required if the defect cannot be repaired
• Fetal cardiac intervention. Rare procedures performed before birth to correct or prevent complications
Some children may need multiple procedures and surgeries throughout life. Lifelong follow-up care with a cardiologist is essential, including regular checkups, blood tests, and imaging studies to monitor for complications.
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