Ebstein's anomaly

It’s natural for you to be concerned right now about your child’s health—a diagnosis of Ebstein’s anomaly can be overwhelming. But you can rest assured that at Children’s Hospital Boston, your child is in expert hands.

Our cardiologists, cardiac surgeons, cardiovascular imaging professionals and other clinicians have extensive experience with all types of heart problems. Each year, we treat thousands of children, adolescents and even adults with a wide variety of heart defects and disorders.

How does a normal heart work?

In a normal heart, oxygen-poor (blue) blood returns to the right atrium from the body, and is pumped by the right ventricle through the pulmonary artery into the lungs. In the lungs the blood receives oxygen (and gives up carbon dioxide), then returns to the left side of the heart. The left ventricle pumps the oxygen-rich blood through the aorta out to the body.

In a normal heart, the tricuspid valve controls blood flow from the right atrium, the chamber that receives blood returning from the body, to the right ventricle, the pumping chamber that pumps that blood to the lungs for oxygenation.

Visit Heart and Blood Vessels for more on how the normal heart works.

What is Ebstein’s anomaly?

But in Ebstein’s anomaly, the leaflets that make up the tricuspid valve are malformed and are malpositioned too far down into the right ventricle. Sometimes, one of the leaflets is displaced downward into the ventricle, while another leaflet is larger than usual and may be abnormally attached to the wall of the ventricle.

When this occurs, blood leaks backward from the ventricle to the atrium. This causes enlargement of the atrium, and it can lead to congestive heart failure—a back-up of blood flow that results in a fluid buildup in the body.

In addition, an opening in the septum between the two atria that occurs normally in the fetus, called the foramen ovale, fails to close in some newborns with Ebstein's anomaly because of the high volume of blood in the right atrium. The opening, called the patent foramen ovale (PFO), allows the mixing of oxygen-poor blue blood from the right atrium with oxygen-rich red blood in the left atrium. This results in poor oxygen levels in the blood that circulates through the body.

Is Ebstein’s anomaly dangerous?

There’s a very wide spectrum of variation and severity with Ebstein’s anomaly. The most severe cases are among the most challenging forms of heart disease—while the least severe forms are never even diagnosed, and children develop and function perfectly normally.

The severe forms of the defect cause such great enlargement of the heart—even prenatally—that the heart fills the baby’s entire chest cavity and crowds out the lungs, which end up being far too small. So, extreme cases end up not being just a heart problem, but rather, a heart-lung problem. The prognosis for such cases isn’t favorable, since by the time the baby is born, there’s already irreversible lung damage.

The good news is that such severe cases are quite uncommon. Far more common are milder forms of the disease, which are treatable, with usually favorable prognoses.

Are there additional defects associated with Ebstein’s anomaly?

Often, Ebstein’s anomaly occurs with one or more other heart defects, including:

• atrial septal defect (ASD): an opening between the right and left atria. This defect often occurs with Ebstein’s anomaly and can be easily corrected at the time of surgical repair of the tricuspid valve.
       
• pulmonary valve stenosis: a malformation in which the pulmonary valve is unable to open completely. With pulmonary stenosis, problems with the pulmonary valve make it harder for the valve’s leaflets to open and permit blood to flow forward from the right ventricle to the lungs.

Arrhythmias can occur, too. Patients who have Ebstein’s anomaly may also have arrhythmias and abnormal heart rates that are associated with the condition. These may need treatment—usually by medications and/or catheter ablation (targeted destruction of affected tissue).

In 1990, Children’s doctors performed the first pediatric non-surgical repair of a cardiac arrhythmia, using catheter ablation to correct a rhythm disorder called Wolff-Parkinson-White syndrome. So, today, Children’s experts can call on our more than three decades’ worth of experience with this procedure.

What are the signs and symptoms of Ebstein’s anomaly?

Signs and symptoms are usually seen shortly after a baby is born. Newborns who show signs and symptoms at birth are usually critically ill, with low levels of oxygen in the blood. These babies have a massive cardiac enlargement and immature, underdeveloped lungs.

For children who have a milder defect, signs and symptoms may come on more gradually, and later in childhood. And because there’s such a wide spectrum of severity with Ebstein’s anomaly, these can range from mild to moderate to severe.

In newborns and babies (usually moderate to severe cases):

• cyanosis (blue coloration of the skin, lips and nailbeds)—the most common sign
• signs of right heart failure (usually abnormal fluid accumulation)
  • swelling of legs, ankles, arms
  • swelling and enlargement of liver (hepatic congestion)
  • fluid build-up in the belly (ascites)
  • fluid build-up pooled around the lungs (pleural effusion)

In children, older children and adults (usually milder cases):

• abnormal heart rhythms (arrhythmias)
• reduced ability to exercise normally
• shortness of breath or labored breathing
• fatigue

How do you diagnose Ebstein’s anomaly?

Cyanosis (blue coloration of the skin) is a major indication that there is a problem with your newborn. Your child’s physician may have also heard a heart murmur during a physical exam. Other diagnostic tests are needed to help with the diagnosis and may include the following:

• echocardiogram (echo, cardiac ultrasound): evaluates the structure and function of your child’s heart using electronically recorded sound waves that produce a moving picture of the heart and heart valves. This test confirms the diagnosis of Ebstein’s anomaly. It’s also used to check for any associated defects, such as atrial septal defects. No discomfort is involved. It takes 30-60 minutes.

• chest x-ray: shows the size and spatial relationships of the heart within the child’s chest. In Ebstein’s anomaly, a chest x-ray would show an enlarged heart. In severe cases involving newborn babies, the silhouette of the heart almost completely fills the chest. It takes a few moments. There’s no pain or discomfort.

• electrocardiogram (ECG or EKG): evaluates the electrical activity of your child’s heart. An EKG may be the first test used on an older child who’s complaining of a racing heart, since it records the heart’s rhythm and will show any abnormal rhythms. The EKG is performed by placing electrodes on the arms, legs and chest to record the electrical activity. It takes five minutes or less and involves no pain or discomfort.

For images and videos of these tools for diagnosing Ebstein’s anomaly, visit the Ebstein’s anomaly section of our cardiovascular Multimedia library.

How do you treat Ebstein’s anomaly?

Your baby most likely will be admitted to Children’s cardiac intensive care unit (CICU) once his symptoms become apparent.

Most children with a milder form of Ebstein’s anomaly can be managed with medication that controls congestive heart failure or abnormal heart rhythms. But if your child’s condition is severe—causing arrhythmia or low levels of oxygen in his blood (cyanosis)—surgery will probably be needed.

Your child’s pediatric cardiologist will outline your child’s options for treatment with you. There are several surgical approaches to repairing your child’s tricuspid valve (see Treatment & care), depending on the many variables that this condition can present.

Who will be involved in my child’s care?

A pediatric cardiologist and/or neonatologist may be involved with your child’s care.

• A pediatric cardiologist specializes in the diagnosis and medical management of congenital heart defects, as well as heart problems that may develop later in childhood.
• A neonatologist specializes in illnesses affecting newborns, both premature and full-term.

How should we care for our child after surgery?

After surgery, your child’s cardiologist will offer recommendations for follow-up care, including:

• wound care while the baby is healing
• a nutritional program to encourage weight gain
• an oral hygiene program to prevent infection
• an appropriate exercise regimen to build body mass and achieve fitness

As your baby recovers and grows, be sure to follow a regular program of well-baby/well-child checkups.

Will my child be OK after surgery for Ebstein’s anomaly?

Because this condition varies so much from child to child in terms of severity, the long-term outlook for each child also varies.

In general, severe forms will appear very early—at birth in some cases—and these children will have the poorest outlook. In less severe forms, surgery to repair or replace the diseased valve may still be needed. And depending on the patient, his activity levels may sometimes be reduced or restricted.

As your child grows, he will need frequent monitoring by his cardiologist. Children who’ve had surgery for Ebstein’s anomaly may need to take medication indefinitely—and in relatively few cases, may need additional surgery.

The outlook varies from child to child, but open heart surgery at Children’s has among the highest success rates in the United States among large pediatric cardiac centers.

What causes Ebstein’s anomaly?

These kinds of heart defects often occur by chance, with no clear reason for their development. Research into possible genetic and/or environmental causes is ongoing, but to date no firm links have been confirmed.

How common is Ebstein’s anomaly?

While relatively rare (one in every 10,000 babies), and it affects boys and girls equally.

Will my child be OK in the long term?

Your cardiologist will help you create a long-term care program as your baby grows into childhood, the teen years and even adulthood. Most of our patients who’ve had congenital heart disease have an ongoing relationship with their Children’s cardiologist.

We’ll prevent and treat complications, and will advise on daily-life issues, such as exercise and activity levels, nutrition and precautions related to pregnancy. Throughout his childhood, you can help your child—and the whole family—by making sure heeats a heart-healthy diet, exercises regularly, and in the teen years avoids smoking.

Surgical techniques for treating congenital heart defects are continually being refined, and Children’s surgical success rates are very high. Nevertheless, your child will need periodic monitoring—and perhaps medication—indefinitely, since he could be at some risk for:

• abnormal heart rhythms (arrhythmias)
• heart failure

In relatively few cases, patients who’ve had surgery for Ebstein’s anomaly may need additional surgery.

Where can my child find care and support when he grows up?

• The Boston Adult Congenital Heart and Pulmonary Hypertension Service (BACH) provides long-term inpatient and outpatient care and advanced therapeutic options for patients with congenital heart disease and pulmonary hypertension as they reach and progress through adulthood.
  
  BACH is an international center for excellence, with physicians and services from Children’s, Brigham and Women’s Hospital and the Beth Israel Deaconess Medical Center. The center promotes and supports clinical and scientific research for the advancement of care of these patients, and is a leader in the education of providers caring for this unique population.

• The Adult Congenital Heart Association (ACHA) is a national not-for-profit organization dedicated to improving and extending the life of adults with congenital heart defects, now thought to number at least 1 million. The organization serves and supports many such adults, their families and the medical community, as well as conducting research and providing advocacy, outreach and education.

What research on heart valves is coming out of Children’s Hospital Boston?

Historically, children who have heart valve conditions have had chronic problems that require lifelong follow-up and treatment. Currently, few artificial replacement heart valves are available that are designed specifically for children, so doctors are limited in their options. And when surgeons place a new valve in a child, it doesn’t expand as the child grows, so it needs to be replaced over time.

To address these problems, Children’s cardiac surgery researchers are exploring ways to reconstruct patients’ existing valves. Unlike replacement valves, a reconstructed valve can last a long time and give children an optimal quality of life.

FAQ

Q: What is Ebstein’s anomaly?

A: Ebstein’s anomaly is a rare heart defect of your child’s tricuspid valve that can cause congestive heart failure. In Ebstein’s anomaly, the leaflets that make up the tricuspid valve are malformed and malpositioned too far down into the right ventricle.

Sometimes, one of the leaflets is displaced downward into the ventricle, while another leaflet is larger than usual and is sometimes abnormally attached to the wall of the ventricle, which may be abnormally small. When this occurs, blood leaks backward from the ventricle to the atrium. This causes enlargement of the atrium and it can lead to congestive heart failure, a back up of blood flow that results in a fluid buildup in the body.

In addition, an opening in the septum between the two atria that occurs normally in the fetus, called the foramen ovale, fails to close in some newborns with Ebstein's anomaly because of the high volume of blood in the right atrium. The opening, called the patent foramen ovale (PFO), allows the mixing of oxygen-poor blue blood from the right atrium with oxygen-rich red blood in the left atrium. This results in poor oxygen levels in the blood that circulates through the body.

Q: Are there other defects or problems associated with Ebstein’s anomaly?

A: Other heart problems occasionally occur with Ebstein’s anomal:

• ASD: An opening in the wall (septum) separating the left and right sides of the heart, called an atrial septal defect (ASD) allows blood from one side to mix with blood from another.
   
• pulmonary valve stenosis: a malformation in which the pulmonary valve is unable to open completely. With pulmonary stenosis, problems with the pulmonary valve make it harder for the valve’s leaflets to open and permit blood to flow forward from the right ventricle to the lungs.
   
• heart rhythm disturbances: patients who have Ebstein’s anomaly may also have arrhythmias and abnormal heart rates that can be associated with Ebstein’s anomaly. These may need treatment—usually by medications and/or catheter ablation (targeted destruction of affected tissue).

Q: If my child has surgery for Ebstein’s anomaly, will he be OK?

A: Most infants who have surgery for Ebstein’s anomaly will grow and develop normally. But your child will need to be followed periodically by a pediatric cardiologist, who will check for any heart-related problems.

The outlook varies from child to child, but open heart surgery at Children’s has among the highest success rates in the United States among large pediatric cardiac centers.

Q: How does Children’s treat Ebstein’s anomaly?

A: Your baby most likely will be admitted to Children’s cardiac intensive care unit (CICU) once his symptoms become apparent.

Most children with a milder form of Ebstein’s anomaly can be managed with medication that controls congestive heart failure or abnormal heart rhythms. But if your child’s condition is severe—causing arrhythmia or low levels of oxygen in his blood (cyanosis)—surgery will probably be needed.

Your child’s pediatric cardiologist will outline your child’s options for treatment with you. There are several surgical approaches to repairing your child’s tricuspid valve (see Treatment & care), depending on the many variables that this condition can present.

Q: What are the signs and symptoms of Ebstein’s anomaly?

A: In newborns and babies (usually moderate to severe cases):

• cyanosis (blue coloration of the skin, lips and nailbeds)—the most common sign
• signs of right heart failure (usually abnormal fluid accumulation)
  • swelling of legs, ankles, arms
  • swelling and enlargement of liver (hepatic congestion)
  • fluid build-up in the belly (ascites)
  • fluid build-up pooled around the lungs (pleural effusion)

In children, older children and adults (usually milder cases):

• abnormal heart rhythms (arrhythmias)
• reduced ability to exercise normally
• shortness of breath or labored breathing
• fatigue

Q: What should we do at home after surgery for Ebstein’s anomaly?

A: After surgery, your child’s cardiologist will offer recommendations for follow-up care, including:

• wound care while the baby is healing
• a nutritional program to encourage weight gain
• an oral hygiene program to prevent infection
• an appropriate exercise regimen to build body mass and achieve fitness

As your baby recovers and grows, be sure to follow a regular program of well-baby/well-child checkups. Throughout his childhood, you can help your child—and the whole family—by making sure he eats a heart-healthy diet, exercises regularly, and in the teen years avoids smoking.

Q: What’s the long-term outlook for a child who’s had surgery for Ebstein’s anomaly?

A: Your cardiologist will help you create a long-term care program as your baby grows into childhood, the teen years and even adulthood. Most of our patients who’ve had congenital heart disease have an ongoing relationship with their Children’s cardiologist. We’ll prevent and treat complications, and will advise on daily-life issues, such as exercise and activity levels, nutrition and precautions related to pregnancy.

Surgical techniques for treating congenital heart defects are continually being refined, and Children’s surgical success rates are very high. Nevertheless, your child will need periodic monitoring—and perhaps medication—indefinitely, since he could be at some risk for:

• abnormal heart rhythms (arrhythmias)
• heart failure

In relatively few cases, patients who’ve had surgery for Ebstein’s anomaly may need additional surgery.

Q: What causes Ebstein’s anomaly?

A: It isn’t clear what causes congenital heart malformations, including Ebstein’s anomaly, although research is underway to search for a genetic or environmental link.

Q: What is Children’s experience treating congenital heart defects?

A: Children’s surgeons treat some of the most complex pediatric heart conditions in the world, with overall success rates approaching 98 percent—among the highest in the nation among large pediatric cardiac centers.

Our experts have pioneered some of medical science’s most advanced heart treatments, now in use around the globe. Children’s is among the only major pediatric heart centers in the world performing fetal heart interventions for certain congenital defects.

Causes

As a congenital heart defect, Ebstein’s anomaly is a problem with your child’s heart structure that he was born with.

The heart forms during the first eight weeks of fetal development. It isn’t clear what causes congenital heart malformations, including Ebstein’s anomaly, although research is underway to search for a genetic or environmental link.

Signs and symptoms

Cyanosis (blue coloration of the skin) is the most common sign of Ebstein’s anomaly in newborns and infants.

When to seek medical advice

Call your health care provider immediately if your baby has a bluish color, or if your child is having difficulty breathing, is breathing rapidly, or seems to tire too easily.

Questions to ask your doctor

After your child is diagnosed with Ebstein’s anomaly, you may feel overwhelmed with information. It can be easy to lose track of the questions that occur to you. Lots of parents find it helpful to jot down questions as they arise—that way, when you talk to your child’s doctors, you can be sure that all your concerns are addressed. 

Some questions might include:

• What’s happening to my child, and why?
• What tests will you perform to determine a treatment for my child?
• What are the treatment options?
• Are there alternative therapies?
• Will my child be OK if he has congenital heart disease?
• Will there be restrictions on my child’s activities?
• Will there be long-term effects?
• What can we do at home?

Who’s at risk

Congenital heart defects usually occur sporadically (by chance), with no clear reason for their development. So, it’s difficult to predict who’s at risk. Familial cases have been reported, but no genetic link has been confirmed. Research is underway to search for a genetic or environmental link. In general, if you have a child with a congenital cardiac defect, the chance of more children having a defect is about 2 to 3 percent.

For teens

If you’re a teen with a congenital heart defect, you have a lot to cope with. Besides the typical issues any teenager faces—from social acceptance to body changes and more—you’ll also have to deal with medical appointments and procedures, some delay of your natural wish for independence, feeling different and assuming a lot of personal responsibility for maintaining your own good health.

If you feel overwhelmed, depressed or anxious through this important time in your transition to adulthood, speak to your doctor or counselor to get help.

For adults with congenital heart disease

If you were treated for congenital heart disease as a child, you’re probably being followed by your cardiologist, since complications from early heart disease can arise in adulthood. In particular, if you had surgery for Ebstein’s anomaly, you need lifelong monitoring—and possibly medication—since you’ll continue to be at some risk for heart problems in the future.

Fortunately, Children’s can help adults with congenital heart defects. Many adults who were patients at Children’s as babies or children continue to be monitored by the clinicians who have followed them since childhood.

In addition, our Boston Adult Congenital Heart and Pulmonary Hypertension Service (BACH) provides long-term inpatient and outpatient care and advanced therapeutic options for patients with congenital heart disease and pulmonary hypertension as they reach and progress through adulthood.

BACH is an international center for excellence, with physicians and services from Children’s, Brigham and Women’s Hospital and the Beth Israel Deaconess Medical Center. The center promotes and supports clinical and scientific research for the advancement of care of these patients, and is a leader in the education of providers caring for this unique population.

What you can do at home

After surgery, your child’s cardiologist will offer recommendations for follow-up care, including:

• wound care while the baby is healing
• a nutritional program to encourage weight gain
• an oral hygiene program to prevent infection
• an appropriate exercise regimen to build body mass and achieve fitness

As your baby recovers and grows, be sure to follow a regular program of well-baby/well-child checkups. Throughout his childhood, you can help your child—and the whole family—by making sure heeats a heart-healthy diet, exercises regularly, and in the teen years avoids smoking.

Ebstein’s anomaly glossary

• atrial septal defect (ASD): a congenital (present at birth) heart defect in which there is an opening in the tissue wall (septum) that divides the two upper chambers of the heart (right and left atria). This defect can be easily corrected at the time of surgical repair of the child’s tricuspid valve.
   
• bioprosthetic tricuspid valve: a replacement tricuspid valve made from human tissue (from the patient or from a cadaver) or from animal tissue.
   
• cardiac catheterization (cardiac cath): provides detailed visual information and measurements about the structures and pressures inside the heart. Blood pressure and oxygen measurements are taken in the four chambers of the heart, as well as the pulmonary artery and aorta.
  
  Cardiac catheterization can also be an interventional procedure. In Ebstein’s anomaly, a catheterization procedure called radiofrequency ablation may be performed to treat heart arrhythmias associated with the condition.
   
• cardiac/cardio-: pertaining to the heart
   
• cardiac surgery: surgical procedure performed on the heart or one of the blood vessels connected to the heart
   
• cardiac surgeon: doctor who performs surgery on the heart. A pediatric cardiac surgeon performs surgery on the hearts of infants and children.
   
• cardiologist: doctor who diagnoses and treats heart problems non-surgically. A pediatric cardiologist treats infants, children and some adults with heart problems.
   
• chest x-ray: shows the size and spatial relationships of the heart within the child’s chest. It takes a few moments. There’s no pain or discomfort.
   
• cone procedure: In this procedure, extra tissues on the enlarged right side of the heart are folded up, and the malformed valve is surgically reshaped into a cone. The cone-shaped valve opens to a central blood flow and closes with full coaptation (joining, reuniting) of the leaflets. (See the Patient story in this topic.)
  
  Children’s is one of just a handful of heart centers in the United States that performs the advanced and innovative cone procedure for repairing the tricuspid valve in children with Ebstein’s anomaly.
   
• congenital heart defect: heart defect present at birth. The heart usually starts to form in the first eight weeks of fetal development. It’s thought that most congenital heart defects develop during this period.
   
• cyanosis (cyanotic): blue color of skin, lips and nailbeds caused by a reduction in the amount of oxygen-rich (red) blood circulating in baby’s bloodstream
   
• diagnosis: medical determination of illness or disease based on history, physical examinations and advanced technology diagnostic testing tools
   
• echocardiogram (echo, cardiac ultrasound): evaluates the structure and function of your child’s heart using electronically recorded sound waves that produce a moving picture of the heart and heart valves. This test confirms the diagnosis of Ebstein’s anomaly. It’s also used to check for any associated defects, such as atrial septal defects and/or ventricular septal defects. No discomfort is involved. It takes 30-60 minutes.
   
• electrocardiogram (ECG or EKG): evaluates the electrical activity of your child’s heart. An EKG is used to evaluate the causes of symptoms and detecting heart abnormalities, including Ebstein’s anomaly. It’s performed by placing electrodes on the arms, legs and chest to record the electrical activity. The test takes five minutes or less and involves no pain or discomfort.
   
• foramen ovale, patent foramen ovale (PFO): An opening (foramen ovale) in the septum between the two atria that occurs normally in the fetus fails to close in some newborns with Ebstein’s anomaly because of the high volume of blood in the right atrium.
  
  The opening, called the patent foramen ovale (PFO), allows the mixing of oxygen-poor blue blood from the right atrium with oxygen-rich red blood in the left atrium. This results in poor oxygen levels in the blood that circulates through the body.
   
• neonatologist: doctor who specializes in illnesses affecting newborns, both premature and full-term
   
• pediatric cardiologist: a doctor who specializes in the diagnosis and medical management of congenital heart defects in babies, as well as heart problems that may develop later in childhood.
   
• pulmonary valve stenosis: a malformation in which the pulmonary valve is unable to open completely. With pulmonary stenosis, problems with the pulmonary valve make it harder for the valve’s leaflets to open and permit blood to flow forward from the right ventricle to the lungs.
   
• sporadic: occurring by chance, not inherited
   
• signs and symptoms: the presenting reasons why a child needs medical attention. Characteristics such as onset, quality, triggers and severity help diagnosticians to determine a disease, or to decide which testing is needed to determine the disease.
   
• surgical valve repair: surgeons willreposition the existing valve, reconfigure the shape of the tricuspid valve leaflets, and may suture an annular ring into place.
   
• tricuspid valve replacement: Sometimes a patient’s tricuspid valve is too malformed to be repaired. In this case, the existing valve will need to be replaced with a mechanical valve or a bioprosthetic one made of human or animal tissue.

For a more complete list of cardiovascular terms, visit our Cardiovascular glossary.

For in-depth visual information on several of the conditions, diagnostic tools and procedures described above, including Ebstein’s anomaly, visit our Multimedia library.