Ebstein’s Anomaly

Ebstein’s anomaly is a rare congenital heart condition (present at birth). It affects the function and location of a tricuspid valve. This valve’s flaps (leaflets) may have an abnormal shape and be stuck to the heart wall.

Because the flaps can’t close properly, blood leaks backward into the upper right chamber (atrium) of your child’s heart. This leak causes fatigue and shortness of breath.

With Ebstein’s anomaly, the tricuspid valve sits lower than it should in your child’s heart. This cuts down on how much of their right ventricle (lower chamber) can pump. Their right atrium and non-working right ventricle can become too large. Over time, the enlarged right side of the heart can weaken, leading to heart failure.

The severity of Ebstein’s anomaly can vary depending on how far down the tricuspid valve is and how the right ventricle performs. Some tricuspid valves might be described as “Ebsteinoid” if the valve is slightly out of place, but the strict criteria for the condition aren’t met.

People with Ebstein’s anomaly often have other heart problems. Most have a hole in the wall between the two upper chambers of the heart. This hole is an atrial septal defect or patent foramen ovale. Defects in the other heart valves and the left chambers of the heart can also occur. Others with Ebstein’s anomaly can have palpitations and arrhythmias that an electrophysiologist should address.

Healthcare providers define this heart defect by giving it a type name from A to D. They describe this by:

• Which of the valve’s three flaps the disease affects
• How the right ventricle looks and works
• Whether it’s mild, moderate, severe or very severe

Symptoms of Ebstein’s anomaly

Ebstein’s anomaly varies widely in how it affects people. The heart defect and its symptoms range from mild to severe, depending on the extent of the malformations.

When the condition is severe, symptoms appear shortly after birth or in the first months of life. Your baby’s skin may have a bluish tint (cyanosis) from a lack of oxygen in their blood. It may be hard for them to breathe and eat.

Beyond infancy, Ebstein’s anomaly symptoms may include:

• Rapid breathing
• Shortness of breath
• Slow weight gain
• Fatigue
• Swelling of the legs, belly or area around the eyes

If the disease is mild, your child may not have symptoms or they may not appear until adulthood. In adults, symptoms include a bluish tint to the skin, shortness of breath and an abnormal heartbeat (arrhythmia).

Ebstein’s anomaly causes

In most cases, healthcare providers don’t know what causes this disease. Researchers believe Ebstein’s anomaly may have a link to changes in certain chromosomes or genes. Exposure to lithium, benzodiazepines or varnish during pregnancy may also have a connection to the condition.

Complications of this condition

Complications of Ebstein’s anomaly may include:

• Abnormal heart rhythms
• Heart failure
• Stroke (rare)
• Brain abscess (rare)
• Heart attack (rare)

How doctors diagnose this condition

Most people with Ebstein’s anomaly get a diagnosis as babies or children. Healthcare providers can detect the condition in a fetus. But some people don’t get a diagnosis until they’re adults over 50.

Your child may need tests to find out how well their heart is working, like:

• Cardiac imaging: A cardiac MRI gives details of the valves and chambers.
• Echocardiogram: This is an ultrasound of your child’s heart. An echocardiogram helps your provider check the structure and function of your child’s heart valves and chambers.
• Electrocardiogram (EKG): This test measures electrical impulses in your child’s heart. It can detect an abnormal heart rhythm.
• Exercise stress test: This is an EKG a provider usually performs while your child walks or pedals. The test measures how well their heart functions when it has to work hard.
• Holter monitor: Your child wears this device for 24 to 48 hours while it collects data about their heart rhythm and heart rate.

How is Ebstein’s anomaly treated?

Treatment depends on how severe your child’s symptoms are. If they have mild or no symptoms, their healthcare provider may monitor their heart and watch for changes.

If your child has signs of heart failure, cyanosis or arrhythmia, they may receive medicine to help manage them.

As an adult, physical activity limits may help if you have an enlarged heart or a history of arrhythmia. Follow your provider’s advice.

Surgery

An infant may have surgery to put in a shunt (fabric graft between two arteries) that helps them move blood to their lungs. They may have another operation later on.

Tricuspid valve surgery for children or adults may improve valve function for the long term. This involves repairing or replacing the malformed valve.

• Repair: If your child has enough tissue, surgeons can repair the valve. They prefer to do this because it uses your child’s own tissue.
• Replacement: If repair isn’t an option, they can replace your child’s valve with a mechanical valve. Replacement valves made of biological tissue are another option. If your child receives a mechanical valve, they’ll need to take medicine to prevent blood clots for the rest of their life.

During surgery, your child’s provider may also fix the hole between the heart’s upper chambers or treat arrhythmia. These treatments may include catheter ablation or a pacemaker.

Rarely, your child may need a heart transplant if other treatments have failed.

When should my child see their healthcare provider?

After surgery, your child should have a follow-up visit within four weeks. Then, they’ll have visits every three to six months. One year after surgery, they’ll need annual checkups. This allows a provider to find any changes in their heart function. These visits should continue throughout their entire life.

Adults need regular checkups as well. These visits will likely include repeats of diagnostic tests.

If your child has Ebstein’s anomaly, tell their provider if their symptoms get worse or they develop new ones. These might include:

• Bluish skin
• Decreased energy
• Fluid retention
• Rapid heartbeat

You may want to ask your child’s provider:

• How severe is my child’s disease?
• Will they need surgery?
• How soon will they need surgery?
• Will they need medicine long-term?

What can I expect if my child has Ebstein’s anomaly?

The prognosis for Ebstein’s anomaly varies widely. Some fetuses and infants with this heart defect don’t survive. Other people live a normal lifespan and never need treatment. In general, the prognosis (outlook) is better with a mild form of the disease.

When diagnosed in infancy, the defects are usually more severe. Children who survive to be adults have a milder form of the disease. But they may develop arrhythmias and heart failure. If this occurs, they may need surgery to repair or replace the tricuspid valve and fix other related heart problems.

Some people with Ebstein’s anomaly need to take antibiotics before getting dental work. This protects them from a heart infection.

People who have surgery may continue to have heart problems and need another surgery. The average life expectancy of a child born with this condition is 25 to 30 years.