What is Ebstein’s anomaly of the tricuspid valve?

The tricuspid valve is one of the heart's four valves. It sits between the upper right chamber of the heart (right atrium) and the lower right chamber of the heart (the right ventricle). Its job is to make sure blood flows in the right direction, preventing it from flowing backward into the atrium when the ventricle contracts.  

In Ebstein’s anomaly of the tricuspid valve, the valve does not close completely, causing some of the blood being pushed into the right ventricle to leak back into the right atrium. The atrium may become enlarged because of the extra blood. In severe cases, this can result in heart failure.  

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

Some children with Ebstein’s anomaly have a condition called Wolff-Parkinson-White syndrome, which means there is an extra electrical connection between the upper and the lower chambers (ventricles) of the heart. This can lead to an abnormal heartbeat (called an arrhythmia), which affects the ability of the heart to pump effectively.

Causes of Ebstein's anomaly of the tricuspid valve

“Anomaly” means a difference or irregularity. The cause of Ebstein’s anomaly is not known. Ebstein’s anomaly is named after Wilhelm Ebstein, the German physician who was the first to describe the condition. 

In a child born with Ebstein’s anomaly, the tricuspid valve did not form properly while the baby was in the womb. 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, which is the muscular wall between the heart’s left and right ventricles. The valve may be severely malformed, and the leaflets may be positioned lower than they should be. As a result, the right atrium may be larger than normal, and the right ventricle may be too small. 

 Some babies, children and adults with milder forms of Ebstein’s anomaly may have minimal symptoms. However more severe forms of Ebstein’s anomaly, which is often detected before a baby is born, can cause the baby to be very ill and require urgent treatment after birth.

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, which is called cyanosis
• Difficulty with feeding or abnormal breathing
• Heart murmur and clicks, which are abnormal heart sounds when a doctor listens with a stethoscope
• Racing heart
• Shortness of breath
• Fatigue

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

The Fetal Heart Program at CHOP can monitor both you and your child throughout your pregnancy and create a plan for labor and care after the birth. CHOP has its own delivery unit for healthy mothers carrying babies with known birth defects. Here, newborns are cared for by pediatric cardiologists and specially trained cardiac nurses immediately following birth.

Newborns with severe Ebstein’s anomaly who are cyanotic or who have difficulty breathing after birth must be admitted to a cardiac intensive care unit 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.

Several different tests are used to diagnose Ebstein’s anomaly. These may include:

• Electrocardiogram (EKG or ECG), which is a record of the electrical activity of the heart
• Echocardiogram (also called echo or ultrasound), which is when sound waves create an image of the heart
• Chest X-ray
• Exercise test

Sometimes, cardiac catheterization will be required. A thin, flexible tube (catheter) is inserted through a vein or artery in the leg and into the heart to provide detailed information about the structure and function of the heart and lungs.

Treatment for Ebstein’s anomaly of the tricuspid valve

In many cases of Ebstein’s anomaly, treatment is not necessary during infancy or early childhood. However, life-long cardiology follow-up will be needed to keep an eye out for any complications that may develop.

In some cases, open heart surgery will be needed to repair the tricuspid valve. In severe cases, a newborn may be very sick from this condition and require urgent cardiac treatment with surgery. The cardiac surgeon may be able to repair the tricuspid valve so that it functions properly.

There are several procedures to repair a tricuspid valve. CHOP’s cardiothoracic team will review your child’s case to determine the most appropriate type of repair. In older children or adults, the surgeon may consider replacing 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 repair it with a patch to cover the hole.

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

Children who have Wolff-Parkinson-White syndrome will be prescribed medications to control the heart rhythm and may possibly 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 Ebstein’s anomaly continues to increase. 

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 or procedures, such as cardiac catheterization, may be required.

Into adulthood

Our pediatric cardiologists follow patients until they are young adults. The Philadelphia Adult Congenital Heart Center, a joint program of CHOP and Penn Medicine, meets the unique needs of adults who were born with heart defects. 

At CHOP’s Cardiac Center, we support our adolescent and young adult patients through a smooth and seamless transition to adult cardiology care at the Philadelphia Adult Congenital Heart Center or, if desired, to a cardiologist with congenital heart disease expertise in another location.