Ebstein anomaly

Overview

Ebstein anomaly is a rare heart condition 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.

Causes

Ebstein anomaly is a heart condition that a person is born with. The cause is not known. 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 conditions, 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, also called a PFO. A PFO is a hole between the upper heart chambers that all babies have before birth. It usually closes after birth. But it can stay open in some people.
• Irregular heartbeats, called arrhythmias. An irregular heartbeat can include 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.

Complications

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 with your healthcare team about the possible risks and complications. Together you can plan for any special care needed during pregnancy.

Treatment

Treatment of Ebstein anomaly depends on:

• How severe the condition is.
• The symptoms.

The goals of treatment are to:

• Reduce symptoms.
• Prevent complications, such as irregular heartbeats and heart failure.

Treatment may include regular health checkups, medicines, or a heart procedure or surgery.

Regular health checkups

If Ebstein anomaly isn't causing irregular heartbeats or other symptoms, regular health checkups may be all that's needed.

Checkups are usually done at least once a year. The checkup usually includes a physical exam and imaging tests to look at the heart.

Medications

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

• Control irregular heartbeats or other changes in the heartbeat.
• Prevent fluid buildup in the body. Too much fluid in the body can be a sign of heart failure.
• Prevent blood clots. Blood clots may happen if the condition also 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 done 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 very bad 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 doing procedures to fix the condition.

Surgery to treat Ebstein anomaly and related heart conditions 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 conditions also may be repaired during this surgery.
• Maze procedure. If Ebstein anomaly causes irregular heartbeats, this treatment may be done during valve repair or replacement surgery. The surgeon makes small cuts in the upper chambers of the heart to create a pattern of scar tissue. The pattern is called a maze. The heart's signals can't pass through scar tissue. So the maze blocks the irregular heart rhythms. Heat or cold energy also can be used to create the scars.

• Radiofrequency catheter ablation. This treatment is done to correct 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.

Preparing for an appointment

You may be sent 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 ahead of time. 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 Ebstein anomaly. Note when they started.
• Important personal information, including a family history of heart conditions.
• All medicines, vitamins or other supplements. Include the dosages.
• Questions to ask your healthcare team.

If you're seeing a new healthcare professional, get a copy of medical records. Send them to the new office.

For Ebstein anomaly, specific questions to ask the healthcare professional include:

• What's the most likely cause of these symptoms?
• What tests are needed?
• What treatments are available? Which do you recommend and why?
• What are the side effects of treatment?
• Are there any diet or activity restrictions?
• Is there any information that I can take home? What websites do you recommend?

Don't hesitate to ask other questions.

What to expect from your doctor

Your healthcare professional is likely to ask you questions, such as:

• Do the symptoms come and go, or do they happen all the time?
• How severe are the symptoms?
• Does anything improve the symptoms?
• What, if anything, makes the symptoms worse?