Ebstein’s Anomaly

Ebstein’s anomaly is a congenital heart defect that affects the tricuspid valve (the one-way valve that separates the right atrium from the right ventricle).

About Ebstein’s Anomaly

The tricuspid valve is one of the two main valves located on the right side of the heart. Normally, the tricuspid valve has three leaflets (flaps) that open to allow blood to flow into the right atrium (collecting chamber of the heart) and close completely to allow the right ventricle (pumping chamber of the heart) to pump blood through the pulmonary artery and to the lungs. With Ebstein’s anomaly, the leaflets of the valve are abnormally formed and, in some cases, can be abnormally connected to the wall of the heart, which causes blood to leak back into the right atrium due to the valve not closing completely. This caused the heart to work less efficiently.

The severity of the Ebstein’s anomaly depends on the extent of the abnormality related to the valve leaflets as well as the extent of the abnormality related to the connections of the valve to the walls of the heart.

Ebstein's anomaly can also be associated with problems in the electrical system of the heart. Some children with Ebstein’s anomaly are also diagnosed with Wolff-Parkinson-White syndrome, which occurs when there is an additional electrical connection between the upper and the lower chambers of the heart. This can lead to an abnormal heartbeat (arrhythmia).

Symptoms of Ebstein’s Anomaly

Symptoms related to Ebstein’s Anomaly are dependent upon the severity of the valve abnormality and the amount of backward leakage of blood.

Symptoms of Ebstein’s anomaly may include:

• Fatigue
• Irregular heartbeats or palpitations
• Tiring easily during exercise (for babies, this includes during feeding)
• Rapid breathing
• Shortness of breath
• Skin that appears pale or blue in color (cyanosis)
• Swelling in the face or belly

Diagnosing Ebstein’s Anomaly

During physical examinations, your child’s doctor listens to your child’s heart and lungs and may detect a heart murmur, which are extra sounds heard throughout the cardiac cycle due to increased blood flow. If your pediatrician suspects increased blood flow in the right atrium, a recommendation to see a pediatric cardiologist may be made. Your doctor may also refer you to a pediatric cardiologist if your child is breathing fast, has poor exercise tolerance (for babies, this includes poor feeding), or has an enlarged liver caused by blood backing up due to the leaky valve.

Tests performed when diagnosing Ebstein’s anomaly may include:

• Cardiac Catheterization: During cardiac catheterization, a small catheter (thin tube) is inserted into a larger blood vessel, typically in the groin, and guided to the heart where blood pressure and oxygen measurements can be taken in the aorta and pulmonary artery as well as the four chambers of the heart. A dye can also be injected through the tube to make the heart’s structure more visible on an X-ray.
• Cardiac MRI or CT Scan: A cardiac MRI or CT scan is used to take more detailed images of the heart to help define the anatomy and detect anomalies.
• Chest X-Ray: A chest X-ray produces an image of the tissue and bones in the heart and lungs and helps your provider assess the shape, size, and structure of the heart and lungs as well as the aeration of or any congestion in the lungs.
• Echocardiogram: An echocardiogram uses ultrasound technology to create a moving image of the heart and its valves, allowing your provider to assess the structure and function of the heart. An echocardiogram also helps provide information about blood flow and how well the heart is pumping blood.
• Electrocardiogram (ECG or EKG): An electrocardiogram uses electrodes that are placed on the body to record the electrical activity taking place in the heart. An ECG/EKG test helps detect abnormal rhythms, such as cardiac arrhythmias, stress on the heart, and damage to the heart muscles.

Treating Ebstein’s Anomaly

Treatment options are dependent upon the extent of the valve abnormality. While, in many cases of Ebstein’s anomaly, treatment is not necessary Instead, some cases do require open-heart surgery to fix the tricuspid valve. Children who are diagnosed with Wolff-Parkinson-White syndrome associated with Ebstein’s anomaly may require a cardiac catheterization for ablation to eliminate the extra electrical pathway in the heart.

Treatment options for Ebstein’s anomaly may include:

• Observation: Treatment may involve careful monitoring of the leaky valve through frequent visits with a pediatric cardiologist to ensure the valve continues to function well with minimal leakage.
• Medications: Some mild forms of Ebstein’s Anomaly require medications to ease symptoms related to the valve leakage and to treat arrhythmias.
• Blalock-Thomas-Taussig Shunt: if there is not enough blood moving through the heart and out to the lungs, a Blalock-Taussig shunt can be used to create a pathway for blood to reach the lungs. During this procedure, a connection is made between the first artery that arises (branches) from the aorta (the major blood vessel that takes blood from the heart to the rest of the body) and the pulmonary artery. Some blood traveling through the aorta toward the body will “shunt,” causing the blood to flow into the pulmonary artery to receive oxygen.
• Glenn Procedure: To unload the volume of blood going through the right side of the heart, a bidirectional Glenn procedure can be performed. This procedure causes half of the blood (the oxygen-poor blood coming back from the upper body) to divert to the lungs. The pulmonary arteries are connected directly to the superior vena cava (the vein that brings deoxygenated blood from the upper part of the body to the heart), sending half of the deoxygenated blood directly to the lungs without going through the ventricle.
• Cone Procedure: The Cone technique can be used to improve the valve function. During this procedure, the tricuspid leaflets are separated from the underlying heart muscle and rotated before being reattached in a circular (“cone”) shape so that they will function properly.
• Starnes Procedure: The Starnes procedure closes off the ill-functioning right ventricle, creating a single ventricle circulation.
• Valve Replacement: The valve can be replaced with an artificial valve. Tricuspid valve replacement surgery may be performed using traditional open-heart surgery or minimally invasive methods. A minimally invasive valve-in-valve procedure involves threading a catheter (small tube) through a large artery, usually in the groin, and into the heart. Once in place, a new valve is inserted within the existing valve.

Care Team Approach

The Texas Center for Pediatric and Congenital Heart Disease, a clinical partnership between Dell Children’s Medical Center and UT Health Austin, takes a multidisciplinary approach to your child’s care. This means your child and your family will benefit from the expertise of multiple specialists across a variety of disciplines. Your care team will include pediatric cardiologists, cardiothoracic surgeons, interventional cardiologists, critical care specialists, hospitalists, anesthesiologists, perfusionists, nurses, advanced practice providers, social workers, psychologists, child life specialists, dietitians, physical and occupational therapists, pharmacists, and more, who work together to provide unparalleled care for patients every step of the way. We collaborate with our colleagues at the Dell Medical School and The University of Texas at Austin to utilize the latest research, diagnostic, and treatment techniques, allowing us to identify new therapies to improve treatment outcomes. We are committed to communicating and coordinating your child’s care with referring physicians and other partners in the community to ensure that we are providing comprehensive, whole-person care.

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