History
The presentation of a patient with Ebstein anomaly varies widely, depending on the severity of the anatomic abnormality. It ranges from severely ill neonates to mildly symptomatic adults (although an initial presentation of an older patient is rare, as only 5% will survive beyond the fifth decade). [23]
In general, infants and young children may present with cyanosis which is chiefly due to the right-to-left shunt at the atrial level. Older children may present with decreased exercise tolerance, excessive fatigue, and dyspnea. Many patients will complain of palpitations as a reult of the supraventricular tachycardia or Wolff-Parkinson-White syndrome. Older patients may present with right-heart failure and generalized edema.
Some patients may be completely asymptomatic with a murmur detected during a physical examination, or they may have abnormal findings on an electrocardiogram (ECG) or a chest radiograph. [24] Presenting symptoms are directly related to the severity of tricuspid valve incompetence, the presence or absence of an atrial septal defect, the degree of right and left ventricular dysfunction, and the presence of arrhythmia and associated cardiac defects.
Beyond the neonatal period, most patients present with dyspnea, fatigue, and some degree of cyanosis. In most patients, exercise tolerance is markedly compromised, and maximum oxygen uptake during exercise is less than half of predicted. Despite these findings, growth and development are usually normal.
The most common clinical presentations by age are as follows:
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Neonates: cyanosis in neonates
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Infants: heart failure
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Older children: incidental murmurs
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Adolescents and adults: arrhythmia and exercise intolerance
Paroxysmal supraventricular arrhythmia occurs in 25-40% of patients; this condition is most often found in teenagers or young adults. [1, 4] Ventricular arrhythmia is also common, and Wolff-Parkinson-White syndrome has been diagnosed in 10-18% of patients. [1, 4] Sudden death due to ventricular arrhythmia may occur in as many as 5-7% of patients. [1] Patients with atrial or ventricular arrhythmia may present with episodes of syncope, near syncope, or recurrent palpitations. Likewise, patients with mild manifestations present as late as the third or fourth decade of life with complaints of palpitation or mild exercise intolerance. The most common causes of death are congestive heart failure, severe hypoxia, and cardiac arrhythmia. [16]
Physical Examination
Upon physical examination, jugular venous distention and a prominent v wave in the jugular pulse may indicate severe tricuspid regurgitation. Heart sounds are usually soft, and the first and second heart sounds are widely split. A systolic murmur of tricuspid regurgitation may be heard along the left sternal border, but this may also be due to right ventricular outflow tract obstruction. The liver may be palpably enlarged, but ascites and peripheral edema are rare. Evidence of significant cyanosis may be seen in the extremities.
In summary, the cardiac examination of a patient with Ebstein anomaly may reveal the following:
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The jugular venous pressure will show large A and V waves.
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The presence of cyanosis will be most common in the extremities.
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Palpation of the chest will reveal left parasternal heave.
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Both S1 and S2 may be split.
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If heart failure is present, auscultation may reveal an S3 and an S4.
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A holosystolic murmur will be present, reflecting tricuspid insufficiency.
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Anatomic features of Ebstein anomaly. Note the atrialized portion of the right ventricle and displacement of the tricuspid valve. AV = atrioventricular.
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Characteristic chest radiograph of a neonate with Ebstein anomaly. The heart shadow demonstrates cardiomegaly, with evidence of severe right atrial enlargement.
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Surgical repair of Ebstein anomaly as described by Danielson. (A) The right atrium is incised and reduced, and the atrial septal defect is closed with a patch. The arrow identifies the large anterior leaflet. (B) Mattress sutures with felt pledgets are used to pull the tricuspid annulus and valve together in a horizontal plane, obliterating the atrialized right ventricle. (C) Sutures are tied after all have been inserted. The arrow identifies the septal leaflet. (D) A posterior annuloplasty is used to narrow the orifice of the tricuspid annulus. (E) Completed repair, resulting in a competent tricuspid valve.
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Surgical repair of Ebstein anomaly as described by Carpentier. The anterior and posterior leaflets are detached from the tricuspid annulus. In type D lesions, fenestrations are used to create interchordal spaces for the passage of blood into the right ventricle outflow tract (insert). Mattress sutures with pledgets are placed in a vertical plane to plicate the atrialized portion of the right ventricle (top right). The anterior leaflet is reattached at the level of the true annulus with a continuous running suture (bottom left). An annuloplasty ring is inserted to reinforce the repair (bottom right).
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Surgical repair of Ebstein anomaly in the neonate as described by Starnes. The atrial septal defect is enlarged by excising the remaining septum. The tricuspid valve orifice is closed with a Gore-Tex patch, effectively creating tricuspid atresia. A Gore-Tex shunt (not shown) is then placed to connect the innominate artery to the right pulmonary artery. PTFE = polytetrafluoroethylene.
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Surgical replacement of the tricuspid valve in Ebstein anomaly. (A) The atrialized right ventricle is plicated in a horizontal plane. (B) Sutures are placed on the atrial side of the coronary sinus and atrioventricular node to avoid injury to the conduction system. (C) Sutures are tied with the heart beating and perfused to ensure the conduction system is intact.
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Surgical replacement of the tricuspid valve using a pericardial patch to avoid injury to the conduction system. The valve insertion is begun anterior to the coronary sinus using a continuous running suture. A glutaraldehyde-treated pericardial patch is sutured to the septal portion of the prosthetic valve sewing annulus. The free margin of the patch is then sutured to the atrial tissue beyond the area of the conduction tissue. AV = atrioventricular.
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Operative steps for Ebstein anomaly repair. (A) Opened right atrium showing displacement of the tricuspid valve. ASD = atrial septal defect, CS = coronary sinus, TTA = true tricuspid annulus. (B) Detached part of the anterior and posterior leaflet as a single piece. (C) Clockwise rotation of the posterior leaflet edge to be sutured to the anterior leaflet septal edge and plication of the true tricuspid annulus to bring the valve to a uniform level. (D) Completion of valve attachment to the true tricuspid annulus and closure of the atrial septal defect. Used with permission from Elsevier (Fig 1 from Da Silva JP, Baumgratz JF, da Fonseca L, et al. The cone reconstruction of the tricuspid valve in Ebstein's anomaly. The operation: early and midterm results. J Thorac Cadiovasc Surg. 2007 Jan;133(1):215-23).
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The cardiac silhouette is usually enlarged in Ebstein anomaly. A chest radiograph will usually show an enormous shadow of the right atrium.
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Pathology of Ebstein anomaly: Dilated right atrium (RA) with inferior displacement of an abnormal tricuspid valve (TV) septal leaflet, which results in a small right ventricle (RV) that is atrialized. ASD = atrial septal defect, LA = left atrium, LV = left ventricle, PA = pulmonary artery, R-L = right to left.
