Pulmonary atresia with intact ventricular septum

Pulmonary atresia (uh-TREE-zhuh) is a rare heart problem present at birth, also called a congenital heart defect.

In pulmonary atresia, the valve between the heart and lungs isn't 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.

Some blood may move through a natural opening between the aorta, the artery carrying oxygen-rich blood out of the heart, and the pulmonary artery. This opening, called the ductus arteriosus, most often closes soon after birth. But it can be kept open with medicines.

In pulmonary atresia with intact ventricular septum (PA/IVS), there isn't a hole between the two pumping chambers of the heart. If there is a hole, the condition is called pulmonary atresia with ventricular septal defect (VSD).

A baby with pulmonary atresia doesn't get enough oxygen in the blood. Urgent treatment is needed. Treatment for pulmonary atresia with intact ventricular septum may include a mix of medicines, procedures or surgery to fix the heart.

Tests used to diagnose pulmonary atresia with intact ventricular septum (PA/IVS) 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.
• Electrocardiogram (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, are attached 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 create pictures of the heart in motion. An echocardiogram shows how blood moves through the heart and heart valves, including the pulmonary valve. An echocardiogram can be done during pregnancy is called a fetal echocardiogram. It can diagnose pulmonary atresia in the baby.
• Cardiac catheterization. A doctor places a thin tube called a catheter through 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.

Babies with pulmonary atresia need treatment right away. It's best to get treatment at a medical center with surgeons and other healthcare professionals who have experience with complex heart problems present at birth.

Treatment for pulmonary atresia with intact ventricular septum (PA/IVS) may include medicines and one or more procedures or surgeries.

Medications

Medicine may be given through an IV to keep the ductus arteriosus open. This is not a permanent treatment for pulmonary atresia. But it gives the care team more time to determine the best type of surgery or procedure for the baby.

Surgeries or other procedures

A baby with pulmonary atresia with intact ventricular septum (PA/IVS) most often 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 problems.

Treatments in the first days to weeks of life

• Balloon valvotomy. This treatment is done to fix a pulmonary valve with a narrowed opening. The surgeon 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.
• Balloon atrial septostomy. A balloon is used to widen the natural hole, called the foramen ovale, in the wall between the upper two chambers of the heart. This hole usually closes shortly after birth. Making the hole larger increases the amount of blood available to travel to the lungs.
• Stenting. The doctor places a rigid tube called a stent in the natural connection between the aorta and pulmonary artery. This connection is called the ductus arteriosus. It usually closes soon after birth. Keeping it open allows blood to travel to the lungs.
• Shunting. This surgery creates a new path from the main blood vessel leading out of the heart, called the aorta, to the pulmonary arteries. The path is called a bypass or shunt. It lets enough blood go to the lungs. An example of this treatment is the Blalock-Taussig shunt procedure. It may be needed in the first few days of life to increase blood flow to the lungs. But babies usually outgrow this shunt within a few months.

Later surgical procedures

• Glenn procedure. This surgery most often is done between 4 and 6 months of age. The surgeon connects one of the large veins that returns blood to the heart to the pulmonary artery. Another large vein keeps blood flowing to the right side of the heart. The heart then pumps blood through the pulmonary valve that's been repaired. This can help the lower right heart chamber grow. If this surgery is done without using a heart-lung machine, it's called an off-pump Glenn procedure.
• 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 2 or 3 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 should have regular health checkups, ideally with a pediatric heart doctor. This type of healthcare professional is called a pediatric cardiologist. Due to advances in treatment and technology, many people with pulmonary atresia with intact ventricular septum (PA/IVS) live into adulthood. Adults with PA/IVS should be followed by a doctor with specialized training in adult congenital heart disease.