Bicuspid Aortic Valve

Diagnosis of Congenital Heart Defects

Congenital heart defects can be diagnosed before birth, shortly after birth, or later in childhood, depending on the severity of the condition.

During pregnancy, a fetal ultrasound can sometimes detect abnormal heart structures or irregular blood flow patterns, helping identify certain defects early.

After birth, a healthcare professional may suspect a congenital heart defect if a baby shows signs such as:

• Slow or delayed growth

• Unusual skin color changes, especially around the lips, tongue, or nails

• A heart murmur, which is an extra or unusual sound heard when listening to the heart with a stethoscope

While many murmurs are harmless, some may indicate changes in blood flow related to a heart defect.

Diagnostic Tests

To confirm the diagnosis, several tests may be used:

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

• Electrocardiogram (ECG or EKG): Records the electrical activity of the heart to detect irregular rhythms or heart enlargement.

• Echocardiogram: Uses sound waves to create moving images of the heart, showing how blood flows through its chambers and valves. A fetal echocardiogram can be done before birth.

• Chest X-ray: Shows the size and shape of the heart and the condition of the lungs, revealing signs such as heart enlargement or fluid buildup.

• Cardiac catheterization: Involves inserting a thin tube through a blood vessel to the heart to measure blood flow and pressure. It can also be used to treat certain defects.

• Heart MRI: Provides detailed 3D images of the heart’s structure and function. It’s often used in older children and adults to evaluate complex defects.

Treatment for Congenital Heart Defects

Treatment depends on the type and severity of the heart defect. Some minor defects may not need any treatment and may close naturally over time. Others may require medical management, surgery, or lifelong care.

Common treatment approaches include:

• Medications

• Minimally invasive heart procedures

• Open-heart surgery

• Heart transplant in severe cases

Medications for Congenital Heart Defects

Medicines can help manage symptoms, improve heart function, and prevent complications. They may include:

• Blood pressure medicines such as ACE inhibitors, ARBs, or beta blockers to reduce strain on the heart

• Diuretics to remove excess fluid and reduce swelling

• Anti-arrhythmic drugs to regulate irregular heartbeats

Surgical and Procedural Treatments

For moderate to severe heart defects, procedures or surgeries may be necessary to repair or replace abnormal structures.

• Cardiac catheterization: Some defects can be corrected using catheters to repair holes, open narrow passages, or place small devices inside the heart — often without open surgery.

• Heart surgery: Open-heart or minimally invasive surgery may be performed to repair complex heart problems.

• Heart transplant: Recommended when the heart is too weak or severely damaged to be repaired.

• Fetal cardiac intervention: In rare and specific cases, doctors may perform a procedure on the baby’s heart before birth to improve blood flow and development.

Lifelong Care and Follow-Up

Children born with congenital heart defects often need lifelong follow-up with a cardiologist. Regular checkups, imaging tests, and medication reviews help monitor heart function and detect complications early. With proper treatment and care, many children with congenital heart defects can lead healthy, active lives.