What Is Ebstein's Anomaly?

Ebstein's anomaly is a heart defect characterized by an abnormality in one of the heart's valves, which can lead to reduced blood flow. The defect causes the tricuspid valve — which separates the right ventricle from the right atrium — to leak blood into the right atrium from the wrong direction.

Causes of Ebstein's Anomaly

Ebstein's anomaly is a heart defect that is present at birth. The exact cause is unknown.

Complications and risk factors

Symptoms can be mild, moderate, or severe. In serious cases, a backup of blood can result in swelling of the heart and a buildup of fluid in the lungs.

Complications include shortness of breath, reduced physical activity, heart enlargement, and even heart failure. Ebstein's anomaly treatments depend on the severity of the condition.

Ebstein's Anomaly Symptoms and Diagnosis

Ebstein's anomaly symptoms

Ebstein's anomaly symptoms may be present at birth or they may not manifest until adulthood. In mild cases, there may be no symptoms and treatment is not necessary. Common Ebstein's anomaly symptoms include:

  • Failure to grow (in the case of a child)
  • Cough
  • Shortness of breath
  • Fatigue
  • Abnormal heart rhythms (arrhythmias)
  • Blue coloring of the lips and/or skin (cyanosis)

Diagnosing Ebstein's anomaly

Babies born with the condition may have low oxygen levels or a bluish tint to their skin, which can result in an Ebstein's anomaly diagnosis. Your child's doctor may also hear abnormal heart sounds when they listen to the baby's chest with a stethoscope. In childhood and adult cases, tests that help doctors make a diagnosis include:

  • An x-ray of the chest
  • Magnetic resonance imaging (MRI) of the heart
  • Measuring electrical activity of the heart (EKG)
  • Ultrasound (echocardiogram)

Ebstein's Anomaly Treatment

Ebstein's anomaly treatments depend on the extent of the defect. Some potential treatments include:

Medicine for Ebstein’s anomaly

A variety of medications may help with treating Ebstein's anomaly or to manage side effects from the condition. For example:

  • Medications to treat heart failure as a complication
  • Diuretics to prevent water retention
  • Anticoagulants to prevent blood clots if the condition has led to heart complications

Cone reconstruction surgery for Ebstein’s anomaly

A cone procedure, pioneered by Jose da Silva, MD, is the standard treatment for children with Ebstein’s anomaly.

It uses tissue from a child's own malfunctioning tricuspid valve to create a new, cone-shaped valve.

Because the reconstructed valve is from the child's own tissue, the body is more willing to accept it. And the valve grows with the child so surgeons will not need to replace it as the child gets older.

Dr. da Silva is one of the most experienced in performing the cone procedure in infants and young kids. He’s trained surgeons around the world in the technique.

Other, less common surgeries for Ebstein’s anomaly include:

  • Modified Blalock-Taussig Shunt: Temporary remedy involving the insertion of a tube between the pulmonary artery and a branch of the aorta. This allows enough blood to the lungs.
  • Atrial septal defect surgery: In the case of a complication causing a hole in the heart, this procedure patches the atrial septal defect.

The Center for Valve Therapy at UPMC Children's Hospital of Pittsburgh provides world-class care for people with congenital heart defects. Our experts are among the most experienced in the world at treating children with Ebstein’s anomaly and other heart valve problems.

Contact the Center for Valve Therapy

To make an appointment for your child, call 412-692-7337.