Endocardial Cushion Defect

What is endocardial cushion defect?

Endocardial cushion defect (ECD) is a congenital (since birth) heart disease. With this condition, the walls (septum) that normally keep all four heart chambers separate don’t form right or are missing. Tricuspid and mitral valves that control blood flow between your heart’s upper and lower chambers don’t form correctly, either.

Without these natural separations in your baby’s heart, their blood doesn’t follow an organized path through their heart. Because of missing walls and valves:

• More blood than normal is sent to your baby’s lungs, causing high blood pressure there.
• High blood pressure in their lungs makes blood go the wrong direction, allowing oxygen-rich blood and oxygen-poor blood to mix.
• It takes extra force to pump blood. This can weaken your baby’s heart muscle.

Types of endocardial cushion defect

Babies with endocardial cushion defects can have a problem with the walls between their atria (upper chambers), ventricles (lower chambers) or both. Also, mitral and tricuspid valve issues can differ.

Endocardial cushion defect is also known as an atrioventricular septal defect (AVSD) or atrioventricular canal defect. It’s associated with other problems people are born with, such as:

• Tetralogy of Fallot.
• Double outlet right ventricle.
• Transposition of the great arteries (two main arteries are in the wrong place).
• Patent ductus arteriosus.
• Single ventricle.

How common is endocardial cushion defect?

In the United States, 1 in about 1,800 babies a year are born with an endocardial cushion defect. About 20% of people with Down syndrome have ECD.

How does endocardial cushion defect affect my body?

ECD that’s getting worse may cause:

• Lung damage.
• Abnormal heart rhythm.
• Congestive heart failure.
• Eisenmenger syndrome.

In some cases, it can be fatal.

Even after surgery, an endocardial cushion defect can put your child at risk for endocarditis, a heart infection. They may need to take antibiotics before having some types of dental work.

What are the symptoms?

People who have partial endocardial cushion defect might not show symptoms as children. Babies who have complete ECD can have symptoms in the first few weeks of life.

Endocardial cushion defect symptoms include:

• Fast heartbeat.
• Pale or blue skin.
• Trouble eating and gaining weight.
• Lack of energy.
• Fast or difficult breathing.
• Infections that happen often.

What causes endocardial cushion defect?

The cause of endocardial cushion defect is unknown, but the problem has a connection to Down syndrome. An endocardial cushion defect happens during development before a baby is born.

What is endocardial cushion defect associated with?

Normally, endocardial cushions become dividing walls between a heart’s chambers. They also develop into valves between the chambers. With ECD, the cushions don’t develop correctly to become walls and valves.

How is endocardial cushion defect diagnosed?

Your baby’s healthcare provider will do a physical exam and order tests. They may hear a heart murmur through their stethoscope.

Using imaging, it’s also possible to diagnose endocardial cushion defect before your baby is born. This is one reason that it is important to see your doctor regularly when you are pregnant.

What tests will be done to diagnose endocardial cushion defect?

These tests can diagnose endocardial cushion defect after a baby is born:

• Electrocardiogram (EKG).
• Echocardiogram.
• Chest X-ray.
• Heart MRI.
• Cardiac catheterization.

Before your baby is born, your healthcare provider can do an ultrasound to check for ECD. If your provider wants a better look, they can ask for a fetal echocardiogram. Both of these tests use harmless sound waves to create images.

How is endocardial cushion defect treated?

Your healthcare provider can do an operation for endocardial cushion defect repair. Until then, they may prescribe medicines like diuretics and digoxin (Cardoxin® or Lanoxin®) to help your baby get stronger and put on some weight.

What treatments are used?

In surgery, your provider will close the holes that are allowing blood to flow freely between chambers. Also, they’ll make separate mitral and tricuspid valves if your baby only has one. If your child’s mitral valve leaks, their provider can repair or replace it.

Your baby can have this operation between the ages of 3 months and 6 months. If they have a complete endocardial cushion defect, they should have the surgery before their first birthday. This will help prevent permanent lung damage.

When a baby is too sick for a full repair, their provider may do a different operation to limit the amount of blood going to the baby’s lungs. Known as pulmonary artery banding, this helps the baby’s symptoms while they grow stronger. They can have the full repair later.

Complications of the treatment

Complications from endocardial cushion defect surgery may include:

• A mitral valve that leaks.
• Abnormal heart rhythm.

These issues may not show up until adulthood.

How can I prevent endocardial cushion defect?

If you have a history of endocardial cushion defect in your family, you may want to consider genetic counseling before pregnancy. There’s a connection between ECD and some genetic issues.

What can I expect if my baby has endocardial cushion defect?

After an operation to fix an endocardial cushion defect, most babies have normal and healthy lives. However, your baby’s outlook depends on how bad their ECD is and whether they have lung disease yet. Their health as a whole is also a factor.

After surgery, 80% of babies survive their first year, 75% live another 10 years and 65% live another 20 years.

Even after having an operation, babies with endocardial cushion defect can have complications later. Most often, they deal with a mitral valve that doesn’t close completely. If this happens, they can have another surgery to fix their mitral valve.

How long endocardial cushion defect lasts

An endocardial cushion defect doesn’t repair itself. The issue will be there until a cardiac surgeon fixes the problem. Without surgery, most babies don’t live past age 2 or 3.

How do I take care of my baby?

Take your baby to a cardiologist, or heart specialist, for regular follow-up appointments throughout their childhood. These check-ups might be once or twice a year. Your child’s cardiologist can keep track of how your child is doing and watch for any problems that may develop, such as a leak in a patch or valve. These check-ups should continue through their adult life.

When should my baby see their healthcare provider?

Contact your baby’s healthcare provider if your child is:

• Having a hard time breathing.
• Getting tired without much effort.
• Not growing or gaining weight as expected.
• Having a blue skin tone.

What questions should I ask my doctor?

• Is my baby’s endocardial cushion defect complete or partial?
• What’s your recommended treatment plan for my baby’s case?
• How many ECD surgeries have you done?

A note from Cleveland Clinic

Although surgery for your infant might not have been in your plans, it’s the best way to fix endocardial cushion defect. The problem won’t go away by itself. Be sure to ask questions if there’s anything you don’t understand about your baby’s condition. After the surgery, keep your child’s follow-up appointments with their healthcare provider. This will help them catch and take care of any issues that come up in the future.