Pulmonary Atresia with Ventricular Septal Defect

Diagnosis

Pulmonary atresia with ventricular septal defect, also called PA-VSD, is often diagnosed during pregnancy or soon after birth. Early testing helps confirm the condition and guide treatment planning.

Tests that may be used to diagnose pulmonary atresia with ventricular septal defect include:

• Pulse oximetry, which uses a small sensor clipped to a hand or foot to check the amount of oxygen in the blood.

• Chest X-ray to show the size and shape of the heart and lungs.

• Echocardiogram, an ultrasound test that uses sound waves to create images of the beating heart. When performed during pregnancy, it is called a fetal echocardiogram and can detect pulmonary atresia before birth.

• Electrocardiogram, also called an ECG or EKG, which records how the heart is beating. Electrode patches are placed on the chest and sometimes the arms or legs. An ECG can detect irregular heart rhythms.

• Cardiac catheterization, in which a thin, flexible tube is placed into a blood vessel in the groin or wrist and guided into the heart. Dye is injected to help the arteries show more clearly on images.

• Heart CT scan, also called a cardiac CT scan, which uses multiple X-rays to create detailed images of the heart and blood vessels. This test can help identify major aortopulmonary collateral arteries, known as MAPCAs, which are important to understand when planning treatment.

Treatment

A baby with pulmonary atresia with ventricular septal defect needs immediate care. Treatment often includes one or more surgeries or procedures to improve blood flow to the lungs and help the heart work more effectively. The approach depends on how the pulmonary arteries are formed and whether MAPCAs are present.

Surgeries or other procedures

Treatments for PA-VSD may include:

• Catheter procedure using thin, flexible tubes to evaluate the baby’s heart and blood supply to the lungs. In some cases, a rigid tube called a stent is placed in the patent ductus arteriosus to keep it open and allow blood to flow into the lungs.

• Systemic-to-pulmonary artery shunt, which may be needed in the first days of life to increase blood flow to the lungs. A small tube is used to create a connection, called a shunt. One example is the Blalock-Taussig shunt, also known as the BT shunt.

• Complete repair performed when the baby is young or after a shunt or stent is placed. During this surgery, the hole in the heart is closed, and a pathway is created between the right lower heart chamber and the pulmonary artery.

• Unifocalization, a surgery used when most lung blood flow comes through MAPCAs. The procedure connects these vessels, sometimes in stages. It may be part of a complete repair or a step before completing the full repair later.

Babies with pulmonary atresia with ventricular septal defect require ongoing follow-up with a congenital cardiologist, a doctor who specializes in heart conditions present at birth.