Ebstein's anomaly symptoms & causes in children

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Contact the Congenital Heart Valve Program

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 Boston Children's Hospital, 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?

Ebsteins Anomaly
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.

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.
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In Ebstein's anomaly, the tricuspid valve is downwardly displaced and adheres to the interventricular septum. Part of the right ventricle is “atrialized,” being located above the tricuspid valve. (abbreviations: Ao=aorta, LA=left atrium, LV=left ventricle, PA=pulmonary artery, RA=right atrium)
 

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, Boston 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, Boston Children’s experts can call on our more than three decades’ worth of experience with this procedure.

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 he eats 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 Boston 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:

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.

Causes of Ebstein's anomaly

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 of Ebstein's anomaly

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.

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, Boston Children’s can help adults with congenital heart defects. Many adults who were patients at Boston 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 Boston 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 he eats 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. 
Boston 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 will reposition 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.

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