Tetralogy of Fallot

Diagnosis

Tetralogy of Fallot is often diagnosed soon after birth. A baby’s skin may appear blue or gray, and a whooshing sound may be heard when listening to the heart with a stethoscope, known as a heart murmur.

Tests

Tests used to diagnose tetralogy of Fallot include:

• Oxygen level measurement. A small sensor placed on a finger or toe checks the amount of oxygen in the blood. This is called a pulse oximetry test.
• Echocardiogram. Sound waves create moving pictures of the heart to evaluate heart structures and valve function.
• Electrocardiogram (ECG or EKG). Sticky patches called electrodes are placed on the chest, and sometimes the arms or legs, to record the heart’s electrical activity. ECGs can detect irregular heartbeats or an enlarged heart.
• Chest X-ray. This imaging test shows the shape and condition of the heart and lungs. A common sign of tetralogy of Fallot is a boot-shaped heart caused by an enlarged right lower chamber.
• Cardiac catheterization. A thin, flexible tube called a catheter is inserted into a blood vessel, usually in the groin, and guided to the heart. This test can help diagnose the condition and plan surgery.

Treatment

All babies with tetralogy of Fallot require surgery to improve blood flow and repair heart defects. The timing and type of surgery depend on the baby’s overall health and specific heart anatomy. Some infants may receive medication to maintain blood flow while waiting for surgery.

Surgery or other procedures

Surgical options include:

• Temporary surgery (palliative repair). A shunt is placed between a large artery from the aorta and the lung artery to improve blood flow while waiting for open-heart surgery. The shunt is later removed during complete repair.
• Open-heart surgery (complete repair). Usually performed within the first year of life, complete repair patches the hole between the lower heart chambers, repairs or replaces the pulmonary valve, removes thickened muscle below the valve, or widens smaller lung arteries. After surgery, the right lower chamber pumps more efficiently, oxygen levels rise, and symptoms improve.

Outlook

Long-term survival rates after tetralogy of Fallot surgery continue to improve. Lifelong follow-up care with a specialized heart care team is recommended. Regular checkups often include imaging tests to monitor heart function and detect any complications from surgery.