Ebstein Anomaly

Ebstein anomaly is a rare congenital heart defect characterized by an abnormal formation of the tricuspid valve and the right ventricle. It occurs in approximately 1 in every 20,000 births.

Causes and Risk Factors

The exact cause of Ebstein anomaly is not fully understood, but it is believed to be related to genetic mutations or environmental factors during fetal development. The condition can occur in isolation or as part of a larger genetic syndrome, such as Wolf-Hirschhorn syndrome or Turner syndrome.

Pathophysiology

In Ebstein anomaly, the tricuspid valve is abnormally formed and the right ventricle is small and underdeveloped. The valve's leaflets are typically malformed and may be attached to the wall of the right ventricle, rather than being suspended from the annulus. This leads to a reduction in the size of the functional right ventricle and an increase in the size of the atrium.

Clinical Presentation

Infants with Ebstein anomaly may present with symptoms such as cyanosis, shortness of breath, and fatigue. Older children and adults may experience palpitations, arrhythmias, and exercise intolerance. In severe cases, Ebstein anomaly can lead to heart failure and increased risk of sudden cardiac death.

Diagnosis

The diagnosis of Ebstein anomaly is typically made using a combination of echocardiography, electrocardiography (ECG), and chest X-ray. Echocardiography allows for visualization of the tricuspid valve and right ventricle, while ECG can help identify arrhythmias and conduction abnormalities.

Treatment

Treatment for Ebstein anomaly depends on the severity of the condition and may include medical management with medications such as diuretics and anti-arrhythmic agents. In more severe cases, surgical intervention may be necessary to repair or replace the tricuspid valve and enlarge the right ventricle.

Surgical Options

Several surgical options are available for Ebstein anomaly, including:

• Tricuspid valve repair: This involves repairing the existing tricuspid valve to improve its function.
• Tricuspid valve replacement: This involves replacing the abnormal tricuspid valve with a prosthetic one.
• Danielson procedure: This involves plicating (folding) the right ventricle to reduce its size and improve its function.

Prognosis

The prognosis for individuals with Ebstein anomaly varies depending on the severity of the condition. With proper medical management and surgical intervention, many people with Ebstein anomaly can lead active and normal lives. However, the condition requires lifelong monitoring and follow-up care to prevent complications.