Ebstein's Anomaly

What is Ebstein’s anomaly?

Ebstein’s anomaly is a rare heart defect that affects the tricuspid valve. Ebstein’s anomaly has a wide range of severity — from mild to severe. About one in 10,000 babies is born with this condition.

In a normal heart, the tricuspid valve controls blood flowing from the right atrium (upper heart chamber) to the right ventricle (lower heart chamber). The valve has three flaps, called leaflets. These leaflets open to allow blood to flow from the right atrium to the right ventricle and close to prevent blood from moving back into the right atrium when the heart pumps.

A diagram of a normal heart and a heart with Ebstein's anomaly

In Ebstein’s anomaly, the leaflets are malformed and are positioned too low in 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. 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.

Children with Ebstein’s anomaly can also have other heart defects, including atrial septal defect or pulmonary valve stenosis.

What are the symptoms of Ebstein’s anomaly?

The most common sign of Ebstein’s anomaly in newborns and infants is a blue coloration of the skin, lips or nails (cyanosis). In some severe cases, the infant may have trouble breathing.

Older children may have the following symptoms:

  • cough
  • rapid breathing or shortness of breath
  • slow growth
  • fatigue
  • fast heartbeat
  • swelling
  • irregular heartbeat

What are the causes of Ebstein’s anomaly?

In some cases, Ebstein’s anomaly has been associated with lithium exposure, but in most cases the cause is unknown.

How we care for Ebstein’s anomaly

The Boston Children’s Hospital Benderson Family Heart Center cares for children with congenital heart defects that involve absent or malfunctioning heart valves. Our surgeons have a strong record of excellence in heart-valve repair and replacement, including minimally-invasive techniques.

Boston Children's is one the select heart centers in the U.S. that performs the advanced and innovative “cone procedure” for repairing the tricuspid valve in children with Ebstein's anomaly.

Many patients with Ebstein’s also have arrhythmias called pre-excitation and Wolff-Parkinson-White syndrome. Our specialized team of electrophysiologists diagnose and treat these arrhythmias.

Our areas of innovation for Ebstein’s anomaly

Pediatric cardiologists and pediatric cardiac surgeons at Boston Children's have pioneered the interventional catheterization and surgical techniques now used widely for many congenital heart defects, such as Ebstein’s anomaly.