Ebstein anomaly

Ebstein anomaly is a rare heart problem that's present at birth. That means it's a congenital heart defect.

In this condition, the valve that separates the top and bottom right heart chambers does not form correctly. This valve is called the tricuspid valve. As a result, the valve does not close as it should. Blood moves backward from the bottom to top chamber, making it harder for the heart to work.

In people with Ebstein anomaly, the heart can grow larger. The condition can lead to heart failure.

Treatment of Ebstein anomaly depends on the symptoms. Some people without symptoms only need regular health checkups. Others may need medicines and surgery.

Some babies born with Ebstein anomaly have few or no symptoms. Others have a tricuspid valve that leaks severely and causes more-noticeable problems. Sometimes symptoms don't occur until later in life.

Symptoms of Ebstein anomaly may include:

• Blue or gray lips or fingernails. Depending on skin color, these color changes may be harder or easier to see.
• Fatigue.
• Feeling of a pounding or rapid heartbeat or irregular heartbeats.
• Shortness of breath, especially with activity.

When to see a doctor

Serious heart problems in a baby are often diagnosed at birth or during routine pregnancy checkups.

Make a health appointment if you or your baby have symptoms of heart problems. These symptoms include feeling short of breath or easily tired with little activity, irregular heartbeats, or blue or gray skin. You may be referred to a doctor trained in heart diseases, called a cardiologist.

Ebstein anomaly is a heart problem that a person is born with. The cause is unknown. To understand more about Ebstein anomaly, it may help to know how the heart works.

How the heart works

The typical heart has four chambers.

• The two upper chambers are called the atria. They receive blood.
• The two lower chambers are called the ventricles. They pump blood.

Four valves open and close to let blood flow in one direction through the heart. Each valve has two or three strong, thin flaps of tissue. The flaps are called leaflets or cusps.

• A valve that is closed stops blood from flowing into the next chamber.
• A closed valve also prevents blood from going back to the previous chamber.

In a typical heart, the tricuspid valve sits between the two right heart chambers.

In Ebstein anomaly, the tricuspid valve is lower than usual in the right lower heart chamber. Also, the shape of the tricuspid valve's flaps is changed. This can cause blood to flow backward into the right upper heart chamber. When this happens, the condition is called tricuspid valve regurgitation.

Heart conditions associated with Ebstein anomaly

Babies born with Ebstein anomaly may have other heart problems, including:

• Holes in the heart. A hole in the heart can lower the amount of oxygen in the blood. Many babies with Ebstein anomaly have a hole between the two upper chambers of the heart. This hole is called an atrial septal defect. Or there may be an opening called a patent foramen ovale (PFO). A PFO is a hole between the upper heart chambers that all babies have before birth that usually closes after birth. It can remain open in some people.
• Irregular heartbeats, called arrhythmias. Heart arrhythmias may feel like a fluttering, pounding or racing heartbeat. Changes in the heartbeat can make it harder for the heart to work as it should.
• Wolff-Parkinson-White (WPW) syndrome. In this condition, an extra signaling pathway between the heart's upper and lower chambers causes a fast heartbeat and fainting.

Ebstein anomaly occurs as the baby grows in the womb during pregnancy.

During the first six weeks of pregnancy, a baby's heart begins to form and starts beating. The major blood vessels that run to and from the heart also begin to develop during this critical time.

It's at this point in a baby's development that congenital heart problems may begin to develop. Researchers aren't sure exactly what increases the risk of a baby having Ebstein anomaly. Genetics and environmental factors are believed be involved. Using some medicines during pregnancy, such as lithium, might increase the risk of Ebstein anomaly in the child.

Possible complications of Ebstein anomaly include:

• Irregular heartbeats.
• Heart failure.
• Sudden cardiac arrest.
• Stroke.

Pregnancy and Ebstein anomaly

It may be possible to have a successful pregnancy with mild Ebstein anomaly. But pregnancy, labor and delivery put extra strain on the heart. Rarely, extreme complications can develop that can cause serious health concerns in the mother or baby.

Before becoming pregnant, talk to your health care provider about the possible risks and complications. Together you can discuss and plan for any special care needed during pregnancy.

The health care provider does a physical exam and listens to the heart and lungs. If a person has Ebstein anomaly, the care provider may hear a heart sound called a murmur. Children with severe Ebstein anomaly may have blue or gray skin due to low blood oxygen levels.

Tests

Tests that are done to help diagnose Ebstein anomaly include:

• Pulse oximetry. In this test, a sensor attached to a finger or toe measures the amount of oxygen in the blood.
• Echocardiogram. Sound waves are used to create pictures of the beating heart. An echocardiogram can show how blood flows through the heart and heart valves.
• Electrocardiogram (ECG or EKG). This simple test checks the heartbeat. Sticky patches are attached to the chest and sometimes the arms and legs. Wires connect the patches to a computer, which prints or displays the results.
• Holter monitor. This portable ECG device can be worn for a day or more to record the heart's activity during daily activities.
• Chest X-ray. A chest X-ray is a picture of the heart, lungs and blood vessels. It can show if the heart is enlarged.
• Cardiac MRI. A cardiac MRI uses magnetic fields and radio waves to create detailed images of the heart. This test can give a detailed view of the tricuspid valve. It also shows the size of the heart chambers and how well they work.
• Exercise stress tests. These tests often involve walking on a treadmill or riding a stationary bike while the heart is checked. An exercise stress test can show how the heart reacts to exercise.
• Electrophysiology study (EP). To perform this test, the doctor threads a thin, flexible tube called a catheter into a blood vessel and guides it to the heart. More than one catheter may be used. Sensors on the tip of the catheter send electrical impulses and record the heart's electricity. This test helps determine which part of the heart is causing a fast or erratic heartbeat. Treatment of an irregular heartbeat may be done during this test.
• Cardiac catheterization. During the test, your doctor can measure pressure and oxygen levels in different parts of the heart. A long, thin flexible tube called a catheter is inserted in a blood vessel, usually in the groin or wrist. It's guided to the heart. Dye flows through the catheter to arteries in the heart. The dye helps the arteries show up more clearly on X-ray images and video. Some heart disease treatments also can be done during this test.

Treatment of Ebstein anomaly depends on the severity of the heart problem and the symptoms. Treatment may include regular health checkups, medicines, or a procedure or surgery.

The goals of treatment are to reduce symptoms and prevent complications, such as irregular heartbeats and heart failure.

Regular health checkups

If Ebstein anomaly isn't causing irregular heartbeats or other symptoms, a doctor may recommend regular checkups.

Follow-up appointments are usually done at least once a year. The checkup usually includes a physical exam and imaging tests to check the heart.

Medications

If you have Ebstein anomaly, you may get medicine to help:

• Control irregular heartbeats or other changes in the heart's rhythm.
• Prevent fluid buildup in the body. Too much fluid in the body can be a sign of heart failure.
• Prevent blood clots, which may occur if Ebstein anomaly occurs with a hole in the heart.

Some babies also are given an inhaled substance called nitric oxide to help improve blood flow to the lungs.

Surgery or other procedures

Surgery is typically recommended if Ebstein anomaly causes severe tricuspid regurgitation and there is heart failure or increasing difficulty with exercise.

Surgery also may be recommended if other symptoms, such as some irregular heartbeats, are severe or affecting quality of life.

If surgery is needed, it's important to choose a surgeon who's familiar with Ebstein anomaly. The surgeon should have training and experience performing procedures to correct the problem.

Surgery to treat Ebstein anomaly and related heart problems may include:

• Tricuspid valve repair. This open-heart surgery fixes a damaged tricuspid valve. The surgeon may patch holes or tears in the valve flaps or remove extra tissue around the valve opening. Other repairs also may be done.

  A type of valve repair called the cone procedure may be done. The heart surgeon separates the heart muscle from the tissue that should have formed the tricuspid valve. The tissue is then used to create a working tricuspid valve.

  Sometimes, the valve might need to be repaired again or replaced in the future.

• Tricuspid valve replacement. If the valve can't be repaired, surgery to replace the valve may be needed. Tricuspid valve replacement surgery may be done as open-heart surgery or minimally invasive surgery. The surgeon removes the damaged or diseased valve and replaces it with a valve made from cow, pig or human heart tissue. This is called a biologic valve. Mechanical valves aren't used often for tricuspid valve replacement.
• Closure of the atrial septal defect. This surgery is done to fix a hole between the upper chambers of the heart. Other heart problems also may be repaired during this surgery.
• Maze procedure. If Ebstein anomaly causes irregular heartbeats, this procedure may be done during valve repair or replacement surgery. The surgeon makes small incisions in the upper chambers of the heart to create a pattern, or maze, of scar tissue. Scar tissue doesn't conduct electricity. So the maze blocks the irregular heart rhythms. Heat or cold energy also can be used to create the scars.

• Radiofrequency catheter ablation. This procedure treats fast or irregular heartbeats. The doctor inserts one or more thin, flexible tubes called catheters into a blood vessel, usually in the groin. The doctor guides them to the heart.

  Sensors at the tips of the catheters use heat, called radiofrequency energy, to damage a small area of heart tissue. This creates scarring, which blocks the heart signals that cause the irregular heartbeats.

• Heart transplant. If severe Ebstein anomaly is causing the heart to fail, a heart transplant might be needed.

Some people who are born with a heart problem may need to limit exercise or sports activities. However, many others with a congenital heart defect can participate in such activities. Ask your health care team which sports and types of exercise are safe for you or your child.

These tips can help you manage Ebstein anomaly symptoms and improve comfort.

• Get regular health checkups. Choose a heart doctor trained in treating heart problems present at birth. This type of provider is called a congenital cardiologist. Tell your health care team if you have any new symptoms, or if your symptoms are getting worse.
• Take medicines as directed. Taking the right dose at the right time can help ease symptoms such as racing heartbeats, fatigue and shortness of breath.
• Stay active. Be as physically active as possible. Ask your health care team how much exercise is right for you or your child. Exercise can help strengthen the heart and improve blood flow. Ask the health care team for a note you can give to your child's teachers or caregivers describing activity restrictions.
• Create a helpful network. Living with a heart problem can make some people feel stressed or anxious. Talking to a therapist or counselor may help you and your child learn new ways to manage stress and anxiety.
• Join a support group. You may find that talking with other people who've experienced the same situation brings you comfort and encouragement. Ask your health care provider if there are any Ebstein anomaly support groups in your area.

You may be referred to a doctor trained in treating heart conditions, called a cardiologist. Here's some information to help you get ready for your appointment.

What you can do

When you make the appointment, ask if there's anything you need to do in advance. For example, you may be told not to eat or drink for a while before certain tests.

Make a list of:

• The symptoms, including any that may seem unrelated to the heart problem. Note when they started.
• Important personal information, including a family history of heart problems.
• All medicines, vitamins or other supplements. Include the dosages.
• Questions to ask your health care team.

If you're seeing a new doctor, request that a copy of medical records be sent to the new office.

For Ebstein anomaly, specific questions to ask your doctor include:

• What's the most likely cause of these symptoms?
• What kinds of tests are needed?
• What treatments are available? Which do you recommend and why?
• What are the side effects of treatment?
• How can I best manage this condition with other conditions I have or my child has?
• Are there any diet or activity restrictions?
• Are there brochures or other printed material I can have? What websites do you recommend?

Don't hesitate to ask other questions.

What to expect from your doctor

Your health care provider is likely to ask you questions, such as:

• Do your symptoms come and go, or do you have them all the time?
• How severe are your symptoms?
• Does anything improve your symptoms?
• What, if anything, worsens your symptoms?