What is the management plan for a 2-year-old male with Ebstein anomaly diagnosed by 2D (two-dimensional) echo?

Management of Ebstein Anomaly in a 2-Year-Old Male

A 2-year-old with Ebstein anomaly diagnosed by 2D echo requires immediate referral to a specialized congenital cardiology center for comprehensive evaluation and close serial monitoring, with surgical intervention indicated if there is deteriorating functional status, progressive cyanosis with oxygen saturation <80%, or evidence of right heart failure. 1

Initial Diagnostic Workup

Beyond the 2D echocardiogram already obtained, complete the following baseline assessments:

• ECG to evaluate for characteristic findings including tall peaked "Himalayan" P waves, QR pattern in V1 (may extend to V4), prolonged QRS with right bundle-branch block pattern, and evidence of preexcitation from accessory pathways present in ~25% of cases 1, 2

• Chest X-ray to assess cardiac size (cardiothoracic ratio >65% indicates poor prognosis) and look for the characteristic "globular" or box-shaped cardiac contour from massive right atrial enlargement with clear lung fields 1, 3

• Pulse oximetry at rest and with activity to detect right-to-left shunting through patent foramen ovale or atrial septal defect, which causes cyanosis 1

• Holter monitoring to screen for supraventricular arrhythmias, which occur in approximately 25% of patients with paroxysmal atrial tachycardia being most common 1

Echocardiographic Assessment Details

The 2D echo must specifically document:

• Degree of apical displacement of the septal tricuspid leaflet (>8 mm/m² confirms diagnosis) and presence of redundant, elongated anterior leaflet 1

• Severity of tricuspid regurgitation and whether valve anatomy is amenable to future repair versus requiring replacement 1

• Right atrial and right ventricular size with assessment of the atrialized portion of the right ventricle 1

• Right ventricular function, recognizing this is a myopathic process, not just valve disease 1

• Presence and size of atrial septal defect or patent foramen ovale 1

• Left ventricular morphology and function, as abnormalities can coexist 1

Indications for Surgical Intervention (Class I Recommendations)

Surgery is recommended if the child develops:

• Deteriorating exercise capacity or functional class III-IV symptoms (NYHA equivalent for age) 1

• Progressive cyanosis with arterial oxygen saturation <80% at rest or with exercise 1

• Right-sided heart failure manifesting as peripheral edema, hepatomegaly, or ascites 1

Critical timing consideration: Delaying surgery until heart failure or RV systolic dysfunction develops is associated with poorer outcomes; earlier intervention before these complications is preferred 1. The Ebstein right ventricle is myopathic and tolerates volume loading poorly compared to other right ventricular lesions 1.

Medical Management Strategy

For children who do not yet meet surgical criteria:

• Serial monitoring every 1-3 years (or more frequently if symptomatic) including ECG, chest X-ray, echocardiography-Doppler, and pulse oximetry 1

• Diuretics if peripheral edema develops, though these will not improve fatigue and dyspnea related to low cardiac output 1

• Anticoagulation with warfarin if atrial fibrillation develops or if there is history of paradoxical embolus (the large compliant right atrium creates stasis predisposing to thrombus formation) 1

• Antiarrhythmic therapy or electrophysiological intervention if supraventricular arrhythmias develop 1

Arrhythmia Considerations

• Electrophysiology study is indicated if supraventricular arrhythmia is documented or suspected, with radiofrequency catheter ablation considered if clinically feasible 1

• Approximately one-third of patients have multiple accessory pathways, associated with higher risk of sudden cardiac death, particularly if ventricular preexcitation is present 1, 2

• Pre-operative EP study may be reasonable before any future tricuspid valve surgery, as surgery can hinder transcatheter access to right-sided accessory pathways 1

Prognosis and Natural History

• In patients presenting in the perinatal period, 10-year actuarial survival is 61% 1

• Patients reaching late adolescence and adulthood often have excellent outcomes if they survive early childhood 1

• Poor prognostic factors include: NYHA class III-IV symptoms, cardiothoracic ratio >65%, atrial fibrillation, severe cyanosis, and magnitude of tricuspid regurgitation 1

Specialized Center Requirement

All patients with Ebstein anomaly should have regular follow-up in a center for congenital cardiology with expertise in managing this complex lesion 1. The anatomic variability is infinite, requiring specialized surgical expertise when intervention becomes necessary 4, 5.

Common Pitfalls to Avoid

• Do not underestimate severity of tricuspid regurgitation based on subtle physical findings; the large compliant right atrium accepts regurgitant flow with minimal pressure rise, so jugular venous pressure may appear normal despite severe TR 1

• Do not delay surgical referral until advanced RV dysfunction develops, as outcomes are worse 1

• Do not miss associated left ventricular abnormalities such as mitral valve prolapse or LV dysfunction 1