Ebstein anomaly is a congenital malformation of the heart that is characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet.
Signs and symptoms
Patients can have a variety of symptoms related to the anatomic abnormalities of Ebstein anomaly and their hemodynamic effects or associated structural and conduction system disease, including the following:
Fatigue and dyspnea
Palpitations and sudden cardiac death
Symptoms of right heart failure, such as edema and ascites
Other less common presenting symptoms include the following:
Brain abscess due to right-to-left shunt
Paradoxical embolism, stroke, and transient ischemic attacks
See Clinical Presentation for more detail.
Physical findings in patients with Ebstein anomaly span a spectrum from subtle to dramatic. They may include the following:
Cyanosis and clubbing
Jugular venous pulse
Arterial pulses: Usually normal but are diminished late in the disease course
Heart sounds: Widely split first heart sound with loud tricuspid component and soft/absent mitral component in the presence of prolonged PR interval; usually normal second heart sound but may be widely split when pulmonary component delayed due to right bundle-branch block; third and fourth heart sounds commonly present, even in the absence of congestive heart failure
A 12-lead electrocardiogram may demonstrate the following findings in patients with Ebstein anomaly:
Normal sinus rhythm
Intermittent/paroxysmal supraventricular tachycardia, atrial flutter/fibrillation, ventricular tachycardia
Abnormal P waves consistent with right atrial enlargement
Prolonged PR interval; may be normal/short in patients with Wolff-Parkinson-White syndrome
Right bundle branch block and/or low voltage QRS complex
The following imaging studies may be used to assess patients with suspected Ebstein anomaly:
Echocardiography: Includes M- mode, 2-dimensional, and Doppler studies
Cine magnetic resonance imaging: In selected patients; not used routinely
See Workup for more detail.
Treatment of Ebstein anomaly is complex and dictated mainly by the severity of the disease itself and the effect of accompanying congenital structural and electrical abnormalities. Treatment options include medical therapy, radiofrequency ablation, and surgical therapy.
Ebstein anomaly requires drug treatment for cardiovascular consequences resulting from tricuspid atrialization of the right ventricle, valvular regurgitation, and septal defects. Patients may require antibiotic prophylaxis for bacterial endocarditis.
The following medications are used in patients with Ebstein anomaly:
Diuretics (eg, furosemide)
Cardiac glycosides (eg, digoxin)
Angiotensin-converting enzyme inhibitors (eg, enalapril)
Radiofrequency ablation of the accessory pathways is an alternative to medication for treatment of arrhythmias. Curative therapy of supraventricular tachycardia with radiofrequency ablation is the treatment of choice. However, in patients without significant structural heart disease, the success rate of this procedure is lower.
Surgical intervention includes the following:
Correction of the underlying tricuspid valve and right ventricular abnormalities
Correction of any associated intracardiac defects
Palliative procedures in early days of life as a bridge to more definitive surgical treatment later
Surgical treatment of associated arrhythmias (eg, ablation of the accessory pathways; maze procedure for atrial arrhythmias)
Cardiac transplantation in selected patients