Overview of Ebstein's Anomaly

(LifeWire) - Ebstein's anomaly is an extremely rare malformation of the heart's tricuspid valve, which separates the upper and lower chambers of the heart's right side. With Ebstein's anomaly, one or two of the valve's three flaps don't move freely, causing blood to be pumped in the wrong direction.

 As a result, complications may include:

• Swelling of the heart
• Buildup of fluid in the lungs
• Formation of clots from pooled blood, which can cause dangerous blockages elsewhere in the bloodstream
• Irregular heartbeat
• Infection of the heart

Ebstein's anomaly is a congenital defect, meaning patients are born with it. The cause is not fully understood, but pharmaceuticals, such as lithium or benzodiazepines, may play a role if used by the mother during pregnancy. It occurs in less than 1% of  congenital heart disease cases and varies greatly in severity. Often, it's accompanied by an atrial septal defect, in which the wall between the upper chambers of the heart is not completely closed.

Diagnosis

Symptoms often arise shortly after birth. When the heart cannot provide an ample blood supply to the lungs, the resulting lack of oxygen, or hypoxia, may cause a bluish appearance in the lips and nail beds. If the anomaly is severe, the infant may have trouble breathing.

In some cases, the problem isn't apparent until later in childhood. Symptoms in older children include:

• Persistent coughing
• Unexplained fatigue
• Delayed growth
• Shortness of breath

Doctors may also listen with a stethoscope for a "murmur," the sound created when blood flows through malformed areas of the heart.

When these symptoms are present, further testing include EKG, MRI and ultrasound to confirm the Ebstein's anomaly.

Treatment

Depending on the severity of the defect, treatment may involve medication to alleviate symptoms or surgery to repair the valve. Nonsurgical interventions include taking diuretics to rid the body of excess fluid and ease the heart's job of pumping and taking digoxin to treat irregular heartbeats.

In severe cases, surgery is necessary to repair the defect or replace it with an artificial valve. If an atrial septal defect is also present, it is usually repaired in the same surgery.

Living with Ebstein's Anomaly

In severe cases, problems are apparent shortly after birth and are not likely to resolve without surgical repair of the defect. If symptoms do not show up  until after the child's first year of life, the anomaly is considered to be mild.

In mild cases, typically the only adjustment a patient must make is taking an antibiotic before dental work in order to prevent infection from spreading to the heart. Strenuous physical activity may also need to be avoided. Women with an Ebstein's anomaly who plan to become pregnant should consult a cardiologist to decide whether the heart is strong enough for the added stress of carrying a baby.

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