What is Ebstein’s anomaly of the tricuspid valve?

The tricuspid valve separates the right upper chamber (the right atrium) and the right lower chamber (the right ventricle) of the heart. In a normal heart, the tricuspid valve closes completely when the right ventricle squeezes to push blood to the lungs, to prevent blood from going backward.

In Ebstein’s anomaly of the tricuspid valve, some blood being pushed into the right ventricle “leaks” back into the right atrium because the valve does not close completely. The atrium may become enlarged because of the extra volume of blood; and, in severe cases, heart failure can result.

Some children with Ebstein’s anomaly of the tricuspid valve also have an atrial septal defect (ASD), a hole in the wall between the two upper chambers of the heart, or other heart defects.

Ebstein's anomaly of the tricuspid valve can also be associated with problems in the electrical system that controls the heart’s pumping. Some children with Ebstein’s anomaly have Wolff-Parkinson-White syndrome, which means there is an extra electrical connection between the upper and the lower chambers of the heart. This can lead to an abnormal heartbeat (arrhythmia). 

 Ebstein’s anomaly is named after Wilhelm Ebstein, the German physician who was the first to describe the condition.

Causes of Ebstein's anomaly of the tricuspid valve

“Anomaly” means a difference or irregularity. In a child born with Ebstein’s anomaly, the tricuspid valve did not form properly during fetal development. A normal tricuspid valve has three leaflets, which  open and close to allow blood to flow from the upper to the lower chamber without going backwards. With Ebstein's anomaly, one or two of the three leaflets may be “stuck” to the walls of the right ventricle or the septum (the muscular wall between the heart’s left and right ventricles). The valve may be severely malformed, and the leaflets may be found to be positioned lower than in a normal heart. As a result, the right atrium may be larger than normal, and the right ventricle smaller.

Signs and symptoms of Ebstein’s anomaly of the tricuspid valve

Symptoms of Ebstein's anomaly include some or all of the following:

• Blue or purple tint to lips, skin and nails (cyanosis)
• Heart murmur and clicks: extra heart sounds heard when a doctor listens with a stethoscope
• Racing heart
• Shortness of breath
• Fatigue

Testing and diagnosis for Ebstein's anomaly of the tricuspid valve

In severe cases, Ebstein’s anomaly can be diagnosed through ultrasound imaging before birth. Our Fetal Heart Program will prepare a plan for care and delivery for you and your baby when Ebstein’s anomaly is diagnosed before birth.

A newborn with Ebstein’s anomaly may exhibit cyanosis (blue tint to the skin) and may have difficulty breathing after birth. These children must be admitted to a cardiac intensive care unit (CICU) for evaluation. Newborns transported to Children’s Hospital of Philadelphia (CHOP) will be admitted to the Evelyn and Daniel M. Tabas Cardiac Intensive Care Unit (CICU), where they will receive around-the-clock attention from a team of dedicated cardiac critical care medicine specialists.

Diagnosis of Ebstein's anomaly may require some or all of these tests:

• Chest X-ray
• Echocardiogram (also called "echo" or cardiac ultrasound): sound waves used to see the heart
• Electrocardiogram (ECG): measures the electrical activity of the heart
• Exercise test

Occasionally, cardiac catheterization will be required to make the diagnosis or to provide additional information. During catheterization, a thin tube is inserted into the heart through a vein and/or artery in the leg, or in the case of a newborn, through the umbilicus (“belly button”).

Treatment for Ebstein’s anomaly of the tricuspid valve

In many cases of Ebstein’s anomaly, treatment is not necessary. Instead, CHOP’s Cardiac Center team will monitor your child during follow-up visits, once a year or more, to ensure complications aren’t developing.

In some cases, open heart surgery will be needed to fix the tricuspid valve. The cardiac surgeon may be able to repair the tricuspid valve so that it functions normally. Otherwise, the surgeon will replace the tricuspid valve with a valve from a donated organ or from an animal. If the child has an atrial septal defect, the surgeon will also repair that.

In the most severe cases, when the right ventricle (the right lower chamber) is much smaller than normal, Ebstein’s anomaly is treated as a single ventricle heart defect. A series of surgeries (at least three) will be required to redirect the flow of blood. The Cardiac Center team will explain this to you in detail if this is the recommended treatment for your child.

Children who have Wolff-Parkinson-White syndrome may require cardiac ablation, a catheterization technique to get rid of the extra electrical connection.

Outlook for Ebstein's anomaly of the tricuspid valve

Because of enormous strides in medicine and technology, life expectancy of patients with Ebstin’s anomaly continues to increase. Today, most children with heart conditions go on to lead productive lives as adults.

Follow-up care

Through adolescence

Our pediatric cardiologists follow patients with Ebstein's anomaly until they are young adults, coordinating care with the primary care physician. Patients will need to carefully follow doctors’ advice, including staying on any medications prescribed and, in some cases, limiting exercise.

Children who were critically ill as newborns and required open heart surgery as infants may have a longer road to recovery.

Sometimes children with Ebstein's anomaly of the tricuspid valve experience heart problems later in life, including irregular heartbeat and a leaky heart valve. Medicine, additional surgery and/or cardiac catheterization may be required.

Into adulthood

At Children’s Hospital of Philadelphia, our pediatric cardiologists follow patients until they are young adults and coordinate care with primary care physicians. We can also help with the transition to an adult cardiologist, who has experience working with adult patients with congenital heart disease. 

The Philadelphia Adult Congenital Heart Center, a joint program of Children’s Hospital of Philadelphia and Penn Medicine, meets the unique needs of adults who were born with heart defects.