What is Ebstein's anomaly (a congenital heart defect)?

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From the Guidelines

Surgical repair of the tricuspid valve is recommended for patients with Ebstein anomaly before the development of heart failure or right ventricular systolic dysfunction, as delay of surgery is associated with poorer outcomes 1.

Overview of Ebstein Anomaly

Ebstein anomaly is a rare congenital heart defect characterized by abnormal development of the tricuspid valve, which separates the right atrium from the right ventricle. In this condition, the tricuspid valve is positioned lower than normal in the right ventricle, causing part of the right ventricle to function as part of the right atrium. This leads to an enlarged right atrium, a smaller functional right ventricle, and often a leaky tricuspid valve.

Symptoms and Complications

Symptoms vary widely depending on severity, ranging from no symptoms in mild cases to severe heart failure in infants with more serious forms. Common symptoms include:

  • Shortness of breath
  • Fatigue
  • Heart palpitations
  • Bluish discoloration of the skin (cyanosis)
  • Heart rhythm abnormalities, particularly Wolff-Parkinson-White syndrome

Treatment and Management

Treatment depends on symptom severity and may include:

  • Monitoring for mild cases
  • Medications to manage heart failure or arrhythmias
  • Surgical repair of the tricuspid valve or heart transplantation for severe cases
  • Tricuspid valve repair is preferred when feasible, and tricuspid valve replacement is performed with a mechanical or heterograft bioprosthesis when repair is not feasible or the repair result is not satisfactory 1
  • A bidirectional cavopulmonary anastomosis may be considered in selected patients with severe right ventricular dysfunction and preserved left ventricular function with low left atrial pressure

Importance of Early Intervention

Early surgical intervention is crucial to prevent or delay worsening symptoms and improve outcomes in patients with Ebstein anomaly 1. Regular cardiology follow-up is essential for all patients with Ebstein anomaly, even those with mild forms, as complications can develop over time.

From the Research

Definition and Presentation of Ebstein's Anomaly

  • Ebstein's anomaly is a congenital malformation of the tricuspid valve and the right heart with a spectrum of clinical and morphologic presentations 2.
  • The anomaly affects the development of the tricuspid valve with widely varying morphology and, therefore, clinical presentation 3.
  • Presentation can vary from a severe symptomatic form during the neonatal period to an incidental detection later in life due to the wide morphological variation of the condition 4.

Diagnosis and Management

  • Echocardiography is the imaging modality of choice for both diagnosis and management of patients with Ebstein's anomaly 2.
  • Comprehensive echocardiography and cardiovascular magnetic resonance imaging protocols by experts trained in congenital heart disease are essential in the preoperative management of patients with Ebstein anomaly 5.
  • Surgical correction includes tricuspid valve repair or replacement and associated findings such as interatrial communications and arrhythmias should be addressed at the time of surgery 2.
  • The da Silva Cone repair has become the valvuloplasty of choice especially beyond the neonatal period and can be applied to a wide morphological variation of the condition with good long-term durability 4.

Surgical Outcomes and Follow-up

  • Valve repair or replacement tailored to the anatomical substrate of the anomaly yielded good long-term results with substantial improvement in functional status 6.
  • Bidirectional Glenn anastomosis combined with a valve repair improved ventricular function and improved both the early and late outcomes 6.
  • Longitudinal clinical follow-up in all Ebstein's anomaly patients (both repaired and unrepaired) is warranted to follow for signs and symptoms of heart failure, arrhythmias, cyanosis, and other associated findings 2.

Special Considerations

  • Pre-pregnancy evaluation should be considered in all Ebstein's anomaly patients and for those who are cyanotic, surgical correction must be considered due to the maternal and fetal ramifications of cyanosis in pregnancy 2.
  • Most acyanotic Ebstein's anomaly patients are able to tolerate pregnancy with manageable or no complications 2.
  • Heart transplantation should be considered in patients with associated left ventricular dysfunction 4.

References

Guideline

Guideline Directed Topic Overview

Dr.Oracle Medical Advisory Board & Editors, 2025

Research

Current Management of Ebstein's Anomaly in the Adult.

Current treatment options in cardiovascular medicine, 2016

Research

Ebstein's anomaly: contemporary management strategies.

Journal of thoracic disease, 2020

Research

Ebstein anomaly: assessment, management, and timing of intervention.

Current treatment options in cardiovascular medicine, 2014

Research

Surgery of the Ebstein's anomaly: early and late outcomes.

Journal of cardiac surgery, 2011

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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