Cardiac Anomalies /

Congenital Heart Defects

Ebstein's Anomaly
About Ebstein's Anomaly | Ebstein's Anomaly
Signs / Symptoms | Diagnosis | Ebstein's
Anomaly Treatments | Treatment Results

What is Ebstein's Anomaly?

Ebstein's anomaly is an abnormality in the
tricuspid valve. The tricuspid valve separates the
right atrium (the chamber that receives blood
from the body) from the right ventricle (the
chamber that pumps blood to the lungs).
In Ebstein's anomaly, two leaflets of the tricuspid valve are displaced
downward into the pumping chamber and the third leaflet is elongated
and may be adherent to the wall of the chamber. These abnormalities
cause the tricuspid valve to leak blood backwards into the right atrium
when the right ventricle contracts and as a result, the right atrium
becomes enlarged and if severe enough, congestive heart failure can
result. More rarely, the valve is so deformed that it will not allow blood to
flow easily in the normal direction (right atrium to right ventricle).
If pressure within the right atrium becomes very high due to the excessive
backflow into it, a communication between the right atrium and left atrium
known as the foramen ovale (which is normally present in the fetus
and usually closes after birth) will remain open. This connection allows
unoxygenated ("blue") blood to flow from the right atrium, bypassing the
lungs and going directly to the body. This will result in lower oxygen levels
in the blood.
Ebstein's anomaly may occur with other heart lesions, such as pulmonary
valve stenosis or atresia, atrial septal defect or ventricular septal defect.
In addition, many patients with Ebstein's anomaly have an accessory
(extra) conduction pathway in the heart (Wolff-Parkinson-White

syndrome) leading to episodes of abnormal fast heart rate

(supraventricular tachycardia.)

What signs or symptoms are associated with Ebstein's

anomaly?
Ebstein's anomaly can range from very mild, with little symptoms, to very
severe. Many patients with milder forms of Ebstein's anomaly do not have
symptoms are diagnosed due to the presence of a heart murmur.
Abnormal or extra heart sounds may also be present on the physical
examination.
Some babies and children have bluish discoloration to their lips and nail
beds (cyanosis), due to the flow of blood from the right atrium to the left
atrium. Children may complain that their heart races, skips a beat, or
"hiccoughs." They may tire more easily than other children or become
short of breath, particularly during play. In adolescents and young adults,
the sensation of "heart skipping" (palpitations) or fast heart rate,
shortness of breath, and chest pain may be the first symptoms. Growth
and development are usually normal in patients with Ebstein's anomaly.
Severely affected babies are often critically ill at birth, with low oxygen
saturations (cyanosis) and heart failure requiring intensive care.
Return to Top

How is the diagnosis of Ebstein's anomaly made?

A chest X-ray will be taken to judge the size of the heart, which may be
quite enlarged. Often, the diagnosis of Ebstein's anomaly is suspected
because of the very large heart on chest X-ray.
An echocardiogram is used to definitively diagnose Ebstein's anomaly and
identify any accompanying heart defects. This test allows the pediatric
cardiologist to determine the degree of valve displacement, the severity of
valve leakage (insufficiency) or valve narrowing (stenosis), the size of
the heart chambers, and if a patent (open) foramen ovale is present.
An electrocardiogram (ECG) records the heart's rhythm. If the child has
complained about a racing heart and the answer is not found in this initial
test, he / she may go home with a recorder which is used to try to capture
the episodes of tachycardia (rapid heart rate). Your child may also have an
exercise stress test performed to better assess his / her heart function
during activity.

Invasive diagnostic testing is not as commonly performed today as in the

past due to the availability of better noninvasive techniques. Certain
patients with Ebstein's anomaly, however, may require cardiac
catheterization to fully define their cardiac anatomy and function.
Some patients with abnormal heart rhythms may require
electrophysiologic testing to better identify and potentially treat their
heart rhythm problems.
Return to Top

How is Ebstein's anomaly treated?

Your child's pediatric cardiologist will discuss the treatment options
appropriate for your child. Mild defects may require no specific treatment,
only prophylaxis for bacterial endocarditis. Medical treatment is used to
help children with congestive heart failure or abnormal heart rhythms.
Surgery may be indicated, depending on a child's specific circumstances.
Surgical repair or replacement of the tricuspid valve and closure of the
formamen ovale or atrial septal defect may be recommended in older
children with moderate to severe congestive heart failure, significant heart
enlargement, cyanosis, or abnormal clot formation.
Abnormal accessory conduction pathways that allow fast heart rates
(supraventricular tachycardia) to develop may be ablated (removed) using
procedures in the catheterization laboratory.
Medical therapy for heart failure or arrhythmias is typically used in
conjunction with planned surgical intervention. In very severe forms of
Ebstein's anomaly, an operation may be required in the newborn period
and the treatment strategy is more like that for children with single
ventricle cardiac anomalies.
Return to Top

What are the results of treatment?

Surgical outcomes were reported in a study of 189 patients with Ebstein's
anomaly who had surgical repair or replacement of the tricuspid
valve. Over half of these patients had valve repair, while 36 percent had
valve replacement. Twelve patients (6 percent) died within the first
postoperative month. Ten died after this first month. Heart failure status
significantly improved in 93 percent of the 177 surviving patients.