Pulmonary atresia with intact ventricular septum

Diagnosis and treatment

Tests used to diagnose pulmonary atresia with intact ventricular septum (PA/IVS) include:

• Pulse oximetry. A small sensor clipped to a hand or foot measures how much oxygen is in the blood.
• Electrocardiogram. Also called an ECG or EKG, this simple test measures the electrical activity of the heart. It shows how the heart is beating. Sticky patches with sensors, called electrodes, attach to the chest and sometimes to the arms or legs. The sensors connect to a monitor, which prints or displays results.
• Chest X-ray. A chest X-ray shows the shape and size of the heart and lungs.
• Echocardiogram. Sound waves are used to make pictures of the beating heart. An echocardiogram shows how blood moves through the heart and heart valves, including the pulmonary valve. An echocardiogram done during pregnancy is called a fetal echocardiogram. It can be used to diagnose pulmonary atresia in the baby.
• Cardiac catheterization. This test shows the heart's arteries. A doctor places a thin, flexible tube called a catheter into a blood vessel, usually in the groin. It's guided to the heart. Dye flows through the catheter and into the heart arteries. The dye helps the arteries show up more clearly on X-rays.

Medicine may be given through an IV to keep the ductus arteriosus open. This is not a permanent treatment for pulmonary atresia. But it keeps the baby stable until a surgery or procedure can be done to permanently fix blood flow.

A baby with pulmonary atresia with intact ventricular septum needs one or more surgeries or procedures to improve blood flow and fix the heart.

Some of these treatments are done in the first days to weeks of a baby's life. Others are done later. The type of surgery or procedure depends on many things. These include the size of the right lower heart chamber and heart valves and whether the baby has other heart conditions.

• Balloon valvotomy. This treatment helps open the pulmonary valve. The doctor inserts a long, thin tube called a catheter into a blood vessel in the baby's groin and guides it to the heart. A balloon on the tip of the catheter is inflated to widen the valve opening. The balloon is deflated, and the catheter and balloon are removed.
• Stenting. The doctor places a rigid tube called a stent in the natural opening between the aorta and pulmonary artery. This opening is called the ductus arteriosus. It usually closes soon after birth. Keeping it open lets blood go to the lungs.
• Shunting. This surgery uses a tube to create a new path for blood to flow to the pulmonary arteries. The tube is called a shunt. An example of this treatment is the Blalock-Taussig shunt procedure or RV-PA shunt. Once this is done, medicine is not needed to keep the ductus arteriosus open. Babies eventually outgrow this shunt.

• Glenn operation. This surgery most often is done between 4 and 6 months of age. The surgeon connects a large vein, called the superior vena cava, to the pulmonary artery. Another large vein keeps blood flowing to the right side of the heart. If this surgery is done without using a heart-lung machine, it's called an off-pump Glenn procedure.
• 1.5 ventricle repair. This surgery may be done in babies with PA/IVS who have a relatively well-formed lower right heart chamber. A surgeon creates a pathway from the lower right heart chamber to the pulmonary artery. The Glenn procedure also is done. The term "1.5 ventricle" means that the lower right heart chamber is doing some but not all of the heart's work.
• Fontan procedure. If the lower right lower heart chamber stays too small to do its work, surgeons may make a new path for blood to flow. The pathway lets most, if not all, of the blood coming to the heart to go into the pulmonary artery. The Fontan procedure is most often done when a child is 3 or 4 years old.
• Hybrid procedures. These are surgical and catheter treatments that are done at the same time. They're sometimes done without a heart-lung machine.

After treatment, babies with pulmonary atresia with intact ventricular septum (PA/IVS) should have regular health checkups with a heart doctor trained to treat children. This type of healthcare professional is called a pediatric cardiologist. Due to advances in treatment and technology, many people with PA/IVS live into adulthood. Adults with the condition should be followed by a doctor with training in adult congenital heart diseases.