Pulmonary atresia with ventricular septal defect

Pulmonary atresia (uh-TREE-zhuh) with ventricular septal defect (VSD) is a heart problem present at birth. That means it’s a congenital heart defect.

In this type of pulmonary atresia, the valve between the heart and lungs is not fully formed. This valve is called the pulmonary valve. Blood can't flow from the right lower heart chamber, called the right ventricle, to the lungs. In pulmonary atresia with ventricular septal defect (VSD), there also is a hole between the two pumping chambers of the heart.

The VSD lets blood flow into and out of the right lower heart chamber. Some blood also may flow through a natural opening called the ductus arteriosus. The ductus arteriosus usually closes soon after birth. But medicines can keep it open.

The lung artery and its branches can be very small or not exist in babies with pulmonary atresia. If these blood vessels are missing, other arteries form on the body's main artery, called the aorta. The arteries help provide blood flow to the lungs. They are called major aortopulmonary collateral arteries (MAPCAs).

Pulmonary atresia with ventricular septal defect is a life-threatening condition. A baby with pulmonary atresia doesn't get enough oxygen. Medicines and one or more procedures or surgeries are needed to improve blood flow and fix the heart.

Pulmonary atresia with ventricular septal defect (VSD) is most often diagnosed at birth or soon after. Tests that may be used to diagnose pulmonary atresia with VSD include:

• Pulse oximetry. A small sensor attached to a hand or foot measures the amount of oxygen in the blood. Pulse oximetry is simple and painless.
• Chest X-ray. A chest X-ray shows the shape and size of the heart and lungs.
• Echocardiogram. Sound waves are used to make images of the beating heart. An echocardiogram of the mother's belly before delivery is called a fetal echocardiogram. It can be used to diagnose pulmonary atresia.
• Electrocardiogram (ECG or EKG). This quick and simple test shows how the heart is beating. Sticky patches with sensors, called electrodes, are attached to the chest and sometimes to the arms or legs. Wires connect the sensors to a computer, which prints or displays results. An ECG can help diagnose irregular heartbeats.
• Cardiac catheterization. A doctor inserts a flexible tube called a catheter in a blood vessel, usually in the groin or wrist. It's guided to the heart. Dye flows through the catheter to heart arteries. The dye helps the arteries show up more clearly on images.
• Heart CT scan, also called a cardiac CT scan. This test uses a series of X-rays to make pictures of the heart and blood vessels. It shows the shape of the heart and lungs. A cardiac CT can help diagnose major aortopulmonary collateral arteries (MAPCAs). Knowing about the MAPCAs is important for planning treatment.

A baby with pulmonary atresia with ventricular septal defect (VSD) needs treatment right away. Treatment may include medicines and one or more surgeries or procedures.

Surgeries or other procedures

A baby with pulmonary atresia with VSD needs one or more surgeries or procedures to improve blood flow and to help the heart work better. Treatment depends on the structure of the pulmonary arteries and whether there are major aortopulmonary collateral arteries (MAPCAs).

Surgeries or other procedures to treat pulmonary atresia with ventricular septal defect may include:

• Catheter procedure for the pulmonary artery branches. This treatment is done to look at the baby's heart. Sometimes doctors use it to rebuild the blood vessels coming off the pulmonary artery. A balloon on the tip of the catheter may be used to widen any narrowed areas. A rigid tube called a stent may be placed in a vessel called the ductus arteriosus. The vessel is between the body’s main artery and the pulmonary artery. The stent keeps it open and lets blood flow into the lungs.
• Systemic-to-pulmonary artery shunt. This surgery may be needed in the first few days of life to increase blood flow to the lungs. It makes a connection, called a shunt, for blood to flow using a small synthetic tube. An example is the Blalock-Taussig shunt, also called the BT shunt.
• Neonatal complete repair. If a baby's heart has well-formed pulmonary arteries and no MAPCAs, a surgeon can do a complete repair at one time during the first four weeks of life. During neonatal complete repair, the hole in the heart is closed and a tube with an artificial valve is placed between the right lower heart chamber and the pulmonary artery.
• One-stage complete repair. Also called unifocalization, this treatment is done to connect all the MAPCAs together to make a new pulmonary artery. The surgeon then closes the hole in the heart. A tube graft, with or without a valve, is used to make a path between the right lower heart chamber and the pulmonary artery. This treatment is usually done between 4 and 6 months of age.
• Staged unifocalization. If the MAPCAs are small or have many areas of narrowing, surgery to connect them may be done in stages. This lets the arteries grow before the complete repair. A small shunt from the aorta to the newly made pulmonary artery allows blood to flow to the lungs. After a few months, heart imaging tests are done to see whether the baby is ready for the complete repair.

Babies with pulmonary atresia with ventricular septal defect (VSD) need regular checkups by a doctor with training in heart conditions present at birth.