What are the other Names for this Condition? (Also known as/Synonyms)

• Ebstein Anomaly
• Ebstein's Malformation

What is Ebstein's Anomaly? (Definition/Background Information)

• Ebstein's Anomaly is a rare heart defect in which parts of the tricuspid valve (which separates the right ventricle from the right atrium) are abnormal. The abnormality causes the tricuspid valve to leak blood backwards into the right atrium
• The backup of blood flow can lead to heart swelling and fluid buildup in the lungs or liver. Sometimes, not enough blood gets out of the heart into the lungs and the person may appear blue. Symptoms range from mild to very severe
• Treatment depends on the severity of the defect and may include medications, oxygen therapy, or surgery

(Source: Ebstein's Anomaly; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Ebstein's Anomaly? (Age and Sex Distribution)

• Ebstein's Anomaly is a rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Ebstein's Anomaly? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for Ebstein's Anomaly

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Ebstein's Anomaly? (Etiology)

The exact cause of development of Ebstein's Anomaly is presently unknown.

What are the Signs and Symptoms of Ebstein's Anomaly?

The signs and symptoms of Ebstein's Anomaly may include:

• Atrial standstill
• Ventricular pre-excitation

Based on the frequency of symptoms observed, the following information may be noted:

Very frequently present symptoms in 80-99% of the cases:

• Atrial septal defect
• Ebstein's Anomaly of the tricuspid valve
• Fatigue            
• Imperforate tricuspid valve
• Premature birth
• Respiratory insufficiency

Frequently present symptoms in 30-79% of the cases:

• Atrial fibrillation
• Chest pain 
• Patent ductus arteriosus 
• Right bundle branch block

Occasionally present symptoms in 5-29% of the cases:

• Abnormality of the endocardium 
• Arterial thrombosis 
• Cerebral ischemia 
• Congestive heart failure

(Source: Ebstein's Anomaly; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Ebstein's Anomaly Diagnosed?

Ebstein's Anomaly is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Ebstein's Anomaly?

The complications of Ebstein's Anomaly may include:

• Severe heart abnormalities
• Sudden cardiac death

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Ebstein's Anomaly Treated?

• Treatment for Ebstein's Anomaly depends on the severity of the defect and may include medications, oxygen therapy, or surgery

(Source: Ebstein's Anomaly; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How can Ebstein's Anomaly be Prevented?

• Currently, Ebstein's Anomaly may not be preventable, since the cause of the disorder is unknown
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Ebstein's Anomaly? (Outcomes/Resolutions)

• The prognosis of Ebstein's Anomaly is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Ebstein's Anomaly:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/