Ebstein’s anomaly

Ebstein’s anomaly is a rare congenital heart defect that affects the tricuspid valve, which is the valve that separates the right atrium from the right ventricle in the heart. This condition results in the tricuspid valve being improperly formed and positioned, causing blood to leak back into the right atrium, reducing the heart’s efficiency in pumping blood.  There is an association with an ASD and/or abnormal conduction. 

 

Symptoms

The severity of symptoms in individuals with Ebstein’s anomaly can vary widely. Some people may have only mild symptoms or be asymptomatic, while others may experience severe symptoms. Common symptoms may include:

  • Cyanosis (bluish skin or lips) due to reduced oxygen levels in the blood.
  • Heart murmur: An abnormal sound heard through a stethoscope due to blood flow turbulence in the heart.
  • Shortness of breath, especially during physical activity.
  • Fatigue and weakness.
  • Irregular heartbeats (arrhythmias).
  • Swelling of the legs and ankles (edema).
  • Severe cases of Ebstein’s anomaly can lead to heart failure and may present as a medical emergency.

 

Diagnosis

The diagnosis of Ebstein’s anomaly is typically made through a combination of medical history review, physical examination, and diagnostic tests, including:

  • Echocardiography (echo): This ultrasound test provides detailed images of the heart and is the primary tool for diagnosing Ebstein’s anomaly.
  • Electrocardiogram (ECG or EKG): This test records the electrical activity of the heart and may show signs of arrhythmias.
  • Chest X-ray: An X-ray may be performed to assess the size and shape of the heart and the presence of any lung congestion.
  • Cardiac MRI or CT scan: These imaging tests may provide additional information about the heart’s anatomy and function.

 

Treatment

The treatment of Ebstein’s anomaly depends on the severity of the condition and the presence of symptoms. Treatment options may include:

  • Medications: Medications may be prescribed to manage symptoms, control arrhythmias, and improve heart function.
  • Catheter-based procedures: In some cases, minimally invasive procedures may be performed to repair the tricuspid valve or close atrial septal defects (if present). In some cases, electrophysiology procedures may be performed to treat heart rhythm abnormalities.
  • Surgical intervention: Severe cases may require open-heart surgery to repair or replace the tricuspid valve and correct other heart defects.
  • Heart transplantation: In extreme cases, when the heart is severely damaged and other treatments are ineffective, a heart transplant may be considered.

 

When to Consult a Physician

Ebstein’s anomaly patients should be monitored life long, even without symptoms.  Our ACHD team can evaluate your symptoms, perform appropriate tests, and provide personalized advice and treatment options.