From the Guidelines
Surgical repair is recommended for adults with Ebstein anomaly before the development of heart failure or right ventricular systolic dysfunction, as delay of surgery is associated with poorer outcomes. Ebstein anomaly is a complex congenital heart defect characterized by abnormal development of the tricuspid valve, leading to an enlarged right atrium, a smaller functional right ventricle, and often a leaky tricuspid valve 1. Symptoms vary widely depending on severity, ranging from no symptoms in mild cases to severe heart failure in infants with more serious defects. Common symptoms include shortness of breath, fatigue, heart palpitations, bluish discoloration of the skin (cyanosis), and heart rhythm abnormalities, particularly Wolff-Parkinson-White syndrome.
Key Considerations
- Approximately one third of adults with Ebstein anomaly and ventricular preexcitation have multiple accessory pathways, associated with a high risk of sudden cardiac death (SCD) 1.
- Concealed accessory pathways are common in Ebstein anomaly and may coexist with manifest accessory pathways, making it reasonable to assess for arrhythmia substrates and proceed with catheter ablation if identified, before surgery 1.
- Surgical repair generally consists of tricuspid valve repair (preferred when feasible) or replacement, selective plication of atrialized right ventricle, reduction atrioplasty, arrhythmia surgery, and/or closure of atrial level shunt, and may result in improvement of symptoms and functional ability, and prevent or delay worsening symptoms 1.
Treatment Approach
- Surgery before the development of heart failure or right ventricular systolic dysfunction is recommended, as delay of surgery is associated with poorer outcomes 1.
- Catheter-based procedures, such as catheter ablation, may be used to manage arrhythmias and accessory pathways 1.
- Medications to manage symptoms, such as anti-arrhythmic medications, may be used in conjunction with surgical or catheter-based treatments 1.
- Lifelong cardiac follow-up is necessary to monitor for potential complications such as arrhythmias, heart failure, or progressive valve dysfunction 1.
From the Research
Definition and Characteristics of Ebstein Anomaly
- Ebstein anomaly is a developmental abnormality of the tricuspid valve and right ventricle, resulting in tricuspid regurgitation and right heart enlargement 2.
- It is a congenital malformation of the tricuspid valve and the right heart with a spectrum of clinical and morphologic presentations 3.
- The condition affects the development of the tricuspid valve with widely varying morphology and, therefore, clinical presentation 4.
Diagnosis and Management
- Echocardiography is the imaging modality of choice for both diagnosis and management of patients with Ebstein's anomaly 3, 4.
- 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 2.
- 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 3, 5.
- 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 5.
Clinical Presentation and Prognosis
- Presentation can vary from the most extreme form in fetal life to asymptomatic diagnosis late in adult life 4.
- The clinical manifestations of Ebstein anomaly in the adult depend on several factors, including the extent of TV leaflet distortion, degree of tricuspid regurgitation, right atrial pressure, and presence of a right-to-left atrial level shunt 6.
- Most acyanotic Ebstein's anomaly patients are able to tolerate pregnancy with manageable or no complications, while those with severe anomalies are discouraged from competitive sports 3.
- Longitudinal clinical follow-up in all Ebstein's anomaly patients is warranted to follow for signs and symptoms of heart failure, arrhythmias, cyanosis, and other associated findings 3.