Complete atrioventricular canal defect
Signs and symptoms of complete atrioventricular canal defect usually develop in the first several weeks of life. They include:

• Difficulty breathing (dyspnea)
• Lack of appetite
• Poor weight gain
• Bluish discoloration of the lips and skin (cyanosis)

If your baby has complete atrioventricular canal defect, he or she may also develop signs and symptoms of congestive heart failure, including:

• Fatigue and weakness
• Persistent cough or wheezing with white or pink blood-tinged phlegm
• Swelling (edema) in the legs, ankles and feet
• Swelling of the abdomen (ascites)
• Sudden weight gain from fluid retention
• Decreased alertness
• Irregular or rapid heartbeat

Partial atrioventricular canal defect
Signs and symptoms of a partial atrioventricular canal defect may not appear until later in life, often in the 20s and 30s. When they do become noticeable, signs and symptoms are usually related to complications that develop as a result of the defect, such as abnormal heart rhythm (arrhythmia), congestive heart failure and high blood pressure in the lungs (pulmonary hypertension).

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Atrioventricular canal defect occurs during fetal growth when your baby's heart is developing. While some factors, such as Down syndrome, may increase the risk of atrioventricular canal defect, in most cases the cause is unknown.

The normal-functioning heart
Your heart is divided into four chambers, two on the right and two on the left. In performing its basic job — pumping blood throughout your body — your heart uses its left and right sides for different tasks. The right side moves blood into vessels that lead to your lungs. In your lungs, oxygen enriches your blood, which circulates to your heart's left side. The left side of your heart pumps blood into a large vessel called the aorta, which circulates blood to the rest of your body. Valves control the flow of blood into and out of the chambers of your heart. These valves open to allow blood to move to the next chamber or to one of the arteries, and they close to keep blood from flowing backward.

A hole in the wall
In partial atrioventricular canal defect, a hole exists in the wall (septum) that separates the upper chambers (atria) of the heart. Also, the mitral valve between the upper and lower left chambers does not close completely (mitral valve regurgitation).

In complete atrioventricular canal defect, there's a large hole in the center of the heart where the walls between the upper chambers (atria) and lower chambers (ventricles) meet. Instead of two separate valves — one on the right (tricuspid) and one on the left (mitral) — one large common valve exists between the upper and lower chambers. Often, this valve doesn't close tightly.

Oxygen-rich and oxygen-poor blood mix through the hole in the septum, and the abnormal valves leak blood into the heart's lower chambers (ventricles). These problems make the heart work harder, causing it to enlarge.

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Although the exact cause of atrioventricular canal defect is unknown, several factors may increase the risk of a congenital heart defect:

• The baby also has Down syndrome, a genetic condition resulting from an extra 21st chromosome. Close to half of children with Down syndrome have congenital heart disease. Of these, 45 percent have atrioventricular canal defect.
• A mother who had German measles (rubella) or another viral illness during early pregnancy.
• A parent who had a congenital heart defect.
• Excessive alcohol consumption during pregnancy.
• A mother who has diabetes.
• Taking some types of medications during pregnancy. Medications that increase risk include the acne drug isotretinoin (Accutane) and lithium (Eskalith), which is used to treat bipolar disorder, a condition that causes intense mood swings.

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Contact your doctor if your child develops any of the following signs or symptoms. These could be indications of heart failure or another complication of atrioventricular canal defect:

• Poor appetite
• Failure to gain weight
• Shortness of breath
• Easily tiring
• A persistent cough or wheezing with white or pink blood-tinged phlegm
• Swelling of the legs, ankles or feet
• Swelling of the abdomen
• Bluish discoloration of the skin

Some babies with the partial form of atrioventricular canal defect may not have any signs or symptoms for weeks, months, years or even decades, depending on the extent of the defect. But, anytime the signs or symptoms above start to appear, seek medical care.

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If your baby has a partial atrioventricular canal defect, his or her doctor may not detect anything wrong right away. However, if your baby has a complete atrioventricular canal defect, signs and symptoms usually become noticeable within the first few weeks of life.

Tests that help diagnose an atrioventricular canal defect include:

• Physical exam. Your baby's doctor may suspect a heart defect such as atrioventricular canal defect if your baby is having trouble breathing or having difficulty feeding and gaining weight. Your doctor may also suspect a heart defect if he or she hears a heart murmur — an abnormal whooshing sound caused by turbulent blood flow.
• Echocardiogram. Doctors typically use an echocardiogram to diagnose atrioventricular canal defect. This test uses high-pitched sound waves that bounce off the heart to produce moving images that the doctor can view on a video screen. In a baby with atrioventricular canal defect, the echocardiogram reveals a hole in the wall between the heart chambers and abnormal valves. Because this test can track blood flow, it also shows blood moving through the hole from the left side to the right side of the heart, allowing oxygen-rich and oxygen-poor blood to mix.
• Cardiac catheterization. In some cases, doctors may use cardiac catheterization to diagnose atrioventricular canal defect. During this procedure, the doctor inserts a thin flexible tube (catheter) into an artery or vein in the groin and advances it up to the heart. A dye is injected through the catheter to make the heart structures visible on X-ray pictures. The catheter also allows the doctor to measure pressure in the chambers of the heart and in the blood vessels.

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Correcting an atrioventricular canal defect helps your child avoid potential complications, such as:

• Pneumonia. If your baby has an untreated atrioventricular canal defect, he or she may have recurrent bouts of pneumonia — a serious lung infection.
• Enlargement of the heart (cardiomegaly). Increased blood flow through the heart forces it to work harder than normal, causing it to enlarge.
• Congestive heart failure. Untreated, atrioventricular canal defect will result in congestive heart failure — a condition in which the heart is unable to pump enough blood to meet the body's needs.
• High blood pressure in the lungs (pulmonary hypertension). When the heart's left ventricle weakens and can't pump out enough blood, the increase in pressure backs up through the pulmonary veins to the arteries in the lungs, causing high blood pressure in the lungs.

Complications later in life
Although treatment greatly improves the outlook for children with atrioventricular canal defect, some who have corrective surgery may still be at risk of the following associated conditions later in life:

• Leaky heart valves (regurgitation)
• Narrowing of the heart valves (stenosis)
• Heart rhythm abnormalities (arrhythmias)
• Breathing difficulties associated with damage to the lungs (pulmonary vascular disease)

Common signs and symptoms of these complications include shortness of breath, fatigue, fever and a rapid, fluttering heartbeat, among others. In some cases, such as a leaky heart valve, a second surgery may be needed.

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With treatment, most kids improve steadily — their appetite increases, they can be more active without tiring as easily, and their growth returns to normal. Surgery is necessary to correct atrioventricular canal defect. During the procedure, a surgeon closes the hole in the septum with one or two patches. The patches remain in the heart permanently, becoming part of the septum as the heart's lining grows over it.

For a partial atrioventricular canal defect, the surgery also involves repair of the mitral valve so it will close tightly. If repair isn't possible, the valve may need to be replaced instead.

If your baby has complete atrioventricular canal defect, the surgery also includes separation of the single valve into two valves, one on the left side and one on the right side of the repaired septum. If reconstruction of the single valve into two valves isn't possible, heart valve replacement may be necessary.

After surgery
After corrective surgery, your child will need lifelong follow-up care with a heart doctor (cardiologist) who specializes in congenital heart disease.

Your child may also need to take preventive antibiotics before certain dental procedures and other surgical procedures if he or she is at risk of severe complications of endocarditis, a bacterial infection of the lining of the heart. Typically, this is when your child has some remaining defects after surgery, has received an artificial valve or has had repair with artificial (prosthetic) material.

Many people who have corrective surgery for atrioventricular canal defect don't need additional surgery. However, some complications, such as heart valve leaks, may require treatment.

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In most cases, atrioventricular canal defect can't be prevented. If you have a family history of heart defects or if you already have a child with a congenital heart defect, talk with a genetic counselor and a cardiologist before future pregnancies.

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Caring for a child with a congenital heart defect can be challenging. Here are some strategies that may help make it easier:

• Seek support. Ask for help from family members and friends. Talk with your child's cardiologist about support groups and other types of assistance that are available near you.
• Record your baby's health history. You may want to write down your child's diagnosis, medications, surgery and other procedures and the dates they were performed, the name and phone number of your child's cardiologist, and any other important information about your child's care. It's also helpful to include a copy of the operative report from your child's surgeon in your records. This information will help you recall the care your child has received, and it will be useful for doctors who are unfamiliar with your baby to review his or her health history.
• Talk about your concerns. As your child grows, you may worry about activities in which he or she can safely participate. Talk with the cardiologist about which activities are best for your child. If some are off-limits, encourage your child in other pursuits rather than focusing on what he or she can't do. If other issues about your child's health concern you, discuss them with your child's cardiologist, too.

Although every circumstance is different, remember that many children with congenital heart defects grow up to lead healthy lives.

©1998-2009 Mayo Foundation for Medical Education and Research (MFMER). Terms of use.