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(Circulation. 2007;115:277-285.)
© 2007 American Heart Association, Inc.

Congenital Heart Disease for the Adult Cardiologist

Ebstein’s Anomaly

Christine H. Attenhofer Jost, MD; Heidi M. Connolly, MD; Joseph A. Dearani, MD; William D. Edwards, MD; Gordon K. Danielson, MD

From the Divisions of Cardiovascular Diseases (C.H.A.J., H.M.C.), Cardiovascular Surgery (J.A.D.), and Anatomic Pathology (W.D.E.), Mayo Clinic, Rochester, Minn.

Reprint requests to Heidi M. Connolly, MD, Division of Cardiovascular Diseases, Mayo Clinic, 200 First St SW, Rochester MN, 55905.

Key Words: atrium • heart defects, congenital • hemodynamics • pathology • pediatrics

	Introduction

Top Introduction Pathological Anatomy Nomenclature and Classification Prevalence and Genetic Factors Associated Cardiac Malformations... Physiology Clinical Features Diagnostic Evaluation Management Natural History and Long-Term... Conclusions References

 
Ebstein’s anomaly is a rare congenital heart disorder occurring in 1 per 200 000 live births and accounting for <1% of all cases of congenital heart disease.^2–6 This anomaly was described by Wilhelm Ebstein in 1866 in a report titled, "Concerning a very rare case of insufficiency of the tricuspid valve caused by a congenital malformation."^7,8 The patient was a 19-year-old cyanotic man with dyspnea, palpitations, jugular venous distension, and cardiomegaly.^7,8 At autopsy, Ebstein described an enlarged and fenestrated anterior leaflet of the tricuspid valve. The posterior and septal leaflets were hypoplastic, thickened, and adherent to the right ventricle. There was also a thinned and dilated atrialized portion of the right ventricle, an enlarged right atrium, and a patent foramen ovale⁹ (Figure 1). By 1950, only 3 cases of this anomaly had been published.^8,10,11

View larger version (100K): [in this window] [in a new window]   Figure 1. Figure from Ebstein’s original case report. The right atrium and right ventricle are shown opened along the right border beginning at the superior vena cava. A, Right atrium; B, right ventricle; b, valve; I, rudimentary septal leaflet of tricuspid valve with its chordae tendineae, which insert on the endocardium of the ventricular septum; r, opening through which one can get into the right conus arteriosus, and in the opposite direction, one can get into the sac that is formed by membrane h, h’, and posterior part of endocardium of ventricular septum o. From Mann and Lie.7 Used with permission of the Mayo Foundation for Medical Education and Research.

	Pathological Anatomy

Top Introduction Pathological Anatomy Nomenclature and Classification Prevalence and Genetic Factors Associated Cardiac Malformations... Physiology Clinical Features Diagnostic Evaluation Management Natural History and Long-Term... Conclusions References

 
In the normal heart, the tricuspid valve has 3 leaflets: anterior, posterior, and septal.^12,13 Ebstein’s anomaly is a malformation of the tricuspid valve and right ventricle characterized by (1) adherence of the septal and posterior leaflets to the underlying myocardium (failure of delamination, namely splitting of the tissue by detachment of the inner layer during embryologic development); (2) downward (apical) displacement of the functional annulus (septal>posterior>anterior); (3) dilation of the "atrialized" portion of the right ventricle, with various degrees of hypertrophy and thinning of the wall; (4) redundancy, fenestrations, and tethering of the anterior leaflet; and (5) dilation of the right atrioventricular junction (true tricuspid annulus).^6,14

The apical displacement of the hinge point of the valve in Ebstein’s anomaly from the atrioventricular ring is shown in Figure 2.^12,15–17 The point of maximal displacement is at the commissure between the posterior and septal leaflets of the tricuspid valve.¹⁶ In normal human hearts, the downward displacement of the septal and posterior leaflets in relation to the anterior mitral valve leaflet is <8 mm/m² body surface area.⁶ The spectrum of the malformation in Ebstein’s anomaly may range from only minimal displacement of the septal and posterior leaflets to an imperforate membrane or muscular shelf between the inlet and trabecular zones of the right ventricle.

View larger version (23K): [in this window] [in a new window]   Figure 2. Top, Normal tricuspid valve with anterior, posterior, and septal leaflets in 1 plane. Middle, Tricuspid valve in right-sided Ebstein’s anomaly showing displacement of posterior and septal leaflets; maximal displacement is at the crux of the posterior and septal leaflets. Bottom, Tricuspid valve in left-sided Ebstein’s anomaly; the displacement of leaflets is similar to that in the right-sided anomaly. From Anderson et al.16 Used with permission of the Mayo Foundation for Medical Education and Research.

The anterior leaflet is generally redundant and may contain several fenestrations.⁶ Its chordae tendineae are generally short and poorly formed. Moreover, the anterior leaflet of the tricuspid valve may be severely deformed, so that the only mobile leaflet tissue is displaced into the right ventricular outflow tract, where it may cause obstruction or form a large sail-like intracavitary curtain. Typical autopsy examples of Ebstein’s anomaly are shown in Figures 3 and 4.

View larger version (54K): [in this window] [in a new window]   Figure 3. Marked cardiomegaly caused by right-sided chamber dilatation in a 67-year-old man with severe Ebstein’s anomaly, with normal heart at right for comparison (anterior view).

View larger version (73K): [in this window] [in a new window]   Figure 4. Severe Ebstein’s malformation of tricuspid valve (4-chamber view) showing marked downward displacement of shelf-like posterior leaflet with attachment to underlying free wall by numerous muscular stumps (arrows), markedly dilated atrialized portion of right ventricle (ARV), small functional portion of right ventricle (RV), leftward bowing of ventricular septum, and marked dilatation of right atrium (RA). LA indicates left atrium; LV, left ventricle.

In Ebstein’s anomaly, the right ventricle is divided into 2 regions: the part directly involved with the malformation (ie, the inlet portion), which is functionally integrated with the right atrium, and the part that is not involved by the anomaly, which consists of the other 2 components of the right ventricle, namely the trabecular and outlet portions, that constitute the functional right ventricle. The "atrialized" portion of the right ventricle (ie, the inlet component) can become disproportionately dilated and may account for more than half of the right ventricular volume in extreme cases instead of the usual one third of the total right ventricular volume. There is often marked dilatation of the true tricuspid valve annulus, which is not displaced, and a large chamber separating this true annulus from the functional right ventricle (atrialized portion of the right ventricle)^6,12 (Figure 2). The right coronary artery demarcates the level of the true annulus and may become kinked during plication annuloplasty procedures.

Two thirds of hearts with Ebstein’s anomaly show dilated right ventricles. Dilatation often involves not only the atrialized inlet portion of the right ventricle but also the functional right ventricular apex and outflow tract. In some cases, right ventricular dilatation is so marked that the ventricular septum bulges leftward, compressing the left ventricular chamber.⁶ In such cases, the short-axis view demonstrates a circular right ventricle and a crescentic left ventricle. In extreme cases, episodic left ventricular outflow tract obstruction can occur.

	Nomenclature and Classification

Top Introduction Pathological Anatomy Nomenclature and Classification Prevalence and Genetic Factors Associated Cardiac Malformations... Physiology Clinical Features Diagnostic Evaluation Management Natural History and Long-Term... Conclusions References

 
We use 2 approaches in describing the anatomic severity of Ebstein’s anomaly. The first approach is based on the echocardiographic appearance in which the abnormality is described as anatomically mild, moderate, or severe. The amount of displacement and tethering of the leaflets and the degree of right ventricular dilatation are assessed. This classification is imprecise but simple. Our second approach is to describe the exact anatomy of each of the involved structures of the heart as visualized at operation. This nomenclature system emphasizes characteristics that surgeons find important when considering repair versus replacement of the tricuspid valve.¹²

In 1988, Carpentier et al¹⁸ proposed the following classification of Ebstein’s anomaly: type A, the volume of the true right ventricle is adequate; type B, a large atrialized component of the right ventricle exists, but the anterior leaflet of the tricuspid valve moves freely; type C, the anterior leaflet is severely restricted in its movement and may cause significant obstruction of the right ventricular outflow tract; and type D, almost complete atrialization of the ventricle except for a small infundibular component.

Celermajer et al¹⁹ described an echocardiographic grading score for neonates with Ebstein’s anomaly, extended Glasgow Outcome Scale, with grades 1 to 4.¹⁹ The ratio of the combined area of the right atrium and atrialized right ventricle is compared with that of the functional right ventricle and left heart (ratio <0.5, grade 1; ratio of 0.5 to 0.99, grade 2; ratio of 1.0 to 1.49, grade 3; ratio 1.5, grade 4).

	Prevalence and Genetic Factors

Top Introduction Pathological Anatomy Nomenclature and Classification Prevalence and Genetic Factors Associated Cardiac Malformations... Physiology Clinical Features Diagnostic Evaluation Management Natural History and Long-Term... Conclusions References

 
The leaflets of the tricuspid valve develop equally from the endocardial cushion tissues and the myocardium.¹³ The leaflets and tensile apparatus of the atrioventricular valves are formed by a process of delamination of the inner layers of the inlet zone of the ventricles. In Ebstein’s anomaly, delamination of the tricuspid valve leaflets fails to occur, but the mechanism for this is not entirely understood.¹⁶

There are heterogeneous genetic factors in Ebstein’s anomaly. Case-control studies suggest genetic, reproductive, and environmental risk factors (eg, the anomaly is more common in twins, in those with a family history of congenital heart disease, and in those with maternal exposure to benzodiazepines).⁴ Maternal lithium therapy can rarely lead to Ebstein’s anomaly in the offspring.²⁰ Most cases are sporadic; familial Ebstein’s anomaly is rare.

In a genetic study of 26 families with Ebstein’s anomaly, 93 of 120 first-degree relatives were evaluated.²¹ No case of the anomaly was found, but 2 first-degree relatives had ventricular septal defects, and another, who died at 7 months, was said to have had congenital heart disease. Rare cases of cardiac transcription factor NKX2.5 mutations, 10p13-p14 deletion, and 1p34.3-p36.11 deletion have been described in the anomaly.^22–24

	Associated Cardiac Malformations in Ebstein’s Anomaly

Top Introduction Pathological Anatomy Nomenclature and Classification Prevalence and Genetic Factors Associated Cardiac Malformations... Physiology Clinical Features Diagnostic Evaluation Management Natural History and Long-Term... Conclusions References

 
An interatrial communication is present in 80% to 94% of patients with Ebstein’s anomaly.^25,26 Additional associated anomalies include bicuspid or atretic aortic valves, pulmonary atresia or hypoplastic pulmonary artery, subaortic stenosis, coarctation, mitral valve prolapse, accessory mitral valve tissue or muscle bands of the left ventricle, ventricular septal defects, and pulmonary stenosis.¹

Abnormalities of left ventricular morphology and function, as well as other left-sided heart lesions, also occur in Ebstein’s anomaly.^{14,15,27–30} We recently reported features resembling noncompaction in 3 patients with the anomaly.³¹ Since then, we have analyzed 106 consecutive patients who had Ebstein’s anomaly and found left-sided heart abnormalities in 39%; 18% of these patients had left ventricular dysplasia resembling noncompaction.³²

Most patients with congenitally corrected transposition of the great arteries have an abnormal systemic tricuspid valve, which fulfills the criteria for Ebstein’s anomaly in 15% to 50% of cases.^16,33–35 It is unclear whether the fundamental nature of the anomaly is identical in concordant and discordant atrioventricular connections.^36,37 The morphological right ventricle is rarely dilated in congenitally corrected transposition.^14,36

	Physiology

Top Introduction Pathological Anatomy Nomenclature and Classification Prevalence and Genetic Factors Associated Cardiac Malformations... Physiology Clinical Features Diagnostic Evaluation Management Natural History and Long-Term... Conclusions References

 
The functional impairment of the right ventricle and regurgitation of the tricuspid valve retard forward flow of blood through the right side of the heart. In addition, during contraction of the atrium, the atrialized portion of the right ventricle balloons out and acts as a passive reservoir, decreasing the volume of ejected blood. The overall effect on the right atrium is dilatation, increasing the size of an interatrial communication. Tricuspid regurgitation increases by annular dilatation.¹⁴ Associated heart disease in Ebstein’s anomaly has a further effect on physiology.

	Clinical Features

Top Introduction Pathological Anatomy Nomenclature and Classification Prevalence and Genetic Factors Associated Cardiac Malformations... Physiology Clinical Features Diagnostic Evaluation Management Natural History and Long-Term... Conclusions References

 
The cardinal symptoms in Ebstein’s anomaly are cyanosis, right-sided heart failure, arrhythmias, and sudden cardiac death. The hemodynamic variations and clinical presentation depend on age at presentation, anatomic severity, hemodynamics, and degree of right-to-left interatrial shunting.³⁸

On examination, the jugular venous pulse rarely shows a large V wave despite severe regurgitation of the tricuspid valve because the large right atrium engulfs the increased volume. A widely and persistently split second heart sound and several added sounds are typical.³⁸ A systolic murmur may be audible. Digital clubbing depends on the degree of cyanosis.³⁸

Ebstein’s anomaly is a common lesion referred for fetal echocardiography because severe forms may lead to cardiomegaly, hydrops, and tachyarrhythmias.^39,40

Neonates with Ebstein’s anomaly may present with cyanosis, congestive heart failure caused by regurgitation of the tricuspid valve, and marked cardiomegaly.³⁹ Symptomatic children with Ebstein’s anomaly may have progressive right-sided heart failure, but most will reach adolescence and adulthood.

Children >10 years of age and adults often present with arrhythmias.¹⁹ Adults also present with progressive cyanosis, decreasing exercise tolerance, fatigue, or right-sided heart failure. In the presence of an interatrial communication, the risk of paradoxical embolization, brain abscess, and sudden death increases.¹⁹ Exercise tolerance is dependent on heart size and oxygen saturation.^41,42

	Diagnostic Evaluation

Top Introduction Pathological Anatomy Nomenclature and Classification Prevalence and Genetic Factors Associated Cardiac Malformations... Physiology Clinical Features Diagnostic Evaluation Management Natural History and Long-Term... Conclusions References

 
Echocardiography
Echocardiography, the diagnostic test of choice for Ebstein’s anomaly, has largely obviated cardiac catheterization^38,43 (Figure 5). Echocardiography allows accurate evaluation of the tricuspid valve leaflets and the size and function of the cardiac chambers.

View larger version (52K): [in this window] [in a new window]   Figure 5. Example of an echocardiogram (4-chamber view, apex down) of a patient with severe Ebstein’s anomaly showing a grossly displaced septal leaflet (arrow). The anterior leaflet is severely tethered and nearly immobile. The functional right ventricle (RV) is small. ARV indicates atrialized right ventricle; LA, left atrium; LV, left ventricle; and RA, right atrium.

The principal feature of Ebstein’s anomaly is apical displacement of the septal leaflet of the tricuspid valve from the insertion of the anterior leaflet of the mitral valve by at least 8 mm/m² body surface area.⁶ Tethering of the tricuspid valve is present if there are at least 3 accessory attachments of the leaflet to the ventricular wall, causing restricted motion of the leaflet.³⁹ Marked enlargement of the right atrium and atrialized right ventricle is present when the combined area of the right atrium and atrialized right ventricle is larger than the combined area of the functional right ventricle, left atrium, and left ventricle measured in the apical 4-chamber view at end diastole.¹⁹ The site and degree of regurgitation of the tricuspid valve and the feasibility of valve repair also are assessed with echocardiography.¹⁴

Cine magnetic resonance imaging may be used to assess ventricular size and function when echocardiographic image quality is inadequate.^44,45

Electrocardiography
The ECG is abnormal in most patients with Ebstein’s anomaly. It may show tall and broad P waves as a result of right atrial enlargement, as well as complete or incomplete right bundle-branch block.³⁸ The R waves in leads V₁ and V₂ are small. Bizarre morphologies of the terminal QRS pattern result from infra-Hisian conduction disturbance and abnormal activation of the atrialized right ventricle.⁴⁶ A typical ECG is shown in Figure 6.

View larger version (28K): [in this window] [in a new window]   Figure 6. ECG of a patient with severe Ebstein’s anomaly showing the typical changes, with prolongation of the PR interval (226 ms), right bundle-branch block, and somewhat bizarre configuration of the QRS complex.

Complete heart block is rare in Ebstein’s anomaly, but first-degree atrioventricular block occurs in 42% of patients because of right atrial enlargement and structural abnormalities of the atrioventricular conduction system.^38,47 The atrioventricular node may be compressed and the central fibrous body abnormally formed. The right bundle branch may be abnormal or show marked fibrosis (or both).^15,16,48

The downward displacement of the septal leaflet of the tricuspid valve is associated with discontinuity of the central fibrous body and septal atrioventricular ring with direct muscular connections, thus creating a potential substrate for accessory atrioventricular connections and pre-excitation.^5,6 From 6% to 36% of patients with Ebstein’s anomaly have 1 accessory pathways,^{26,38,46,49,50} and most accessory pathways are located around the orifice of the malformed tricuspid valve.^25,27,47 Correct identification and treatment of accessory pathways are essential and may help to prevent sudden cardiac death. Paroxysmal tachyarrhythmias in Ebstein’s anomaly are based on typical, fast-conducting atrioventricular accessory pathways with both antegrade and retrograde conduction properties in most patients.⁴⁶ In addition, wide QRS tachycardia over a septal accessory atrioventricular pathway, ventricular tachycardia, or flutter, as well as ectopic atrial tachycardia, atrial flutter, and atrial fibrillation, can occur.^46,50 Atrial fibrillation and atrial flutter are most likely caused by secondary alterations of the right atrial myocardium from previous cardiac surgery or are postoperative as a result of incisional atrial tachycardia.⁴⁶

Chest Radiography
The cardiac silhouette may vary from almost normal to the typical Ebstein’s anomaly configuration consisting of a globe-shaped heart with a narrow waist similar to that seen with pericardial effusion (Figure 7). Vascularity of the pulmonary fields is either normal or decreased. A cardiothoracic ratio >0.65 carries a poor prognosis.

View larger version (155K): [in this window] [in a new window]   Figure 7. Chest radiograph of a patient who had Ebstein’s anomaly with severe tricuspid regurgitation and a small atrial septal defect before tricuspid valve surgery. This typical image shows cardiomegaly, a narrow waist, and a cardiothoracic ratio of 0.56.

Cardiac Catheterization
Diagnostic cardiac catheterization is rarely necessary in patients with Ebstein’s anomaly, other than for preoperative coronary angiography. Right ventricular and pulmonary artery pressures are usually normal in patients with the anomaly, although the right ventricular end-diastolic pressure may be increased. Right atrial pressure may be normal despite severe regurgitation of the tricuspid valve, especially if the right atrium is markedly dilated. Oximetry may show systemic arterial desaturation in the presence of an interatrial communication and right-to-left shunting.

	Management

Top Introduction Pathological Anatomy Nomenclature and Classification Prevalence and Genetic Factors Associated Cardiac Malformations... Physiology Clinical Features Diagnostic Evaluation Management Natural History and Long-Term... Conclusions References

 
Medical
Any patient with Ebstein’s anomaly needs to be evaluated regularly by a cardiologist who has expertise in congenital heart disease. Prophylaxis for endocarditis is recommended despite its low risk in the anomaly.

Physical activity recommendations are summarized by Task Force 1 on Congenital Heart Disease.⁵¹ Athletes with mild Ebstein’s anomaly, nearly normal heart size, and no arrhythmias can participate in all sports. Athletes with severe Ebstein’s anomaly are precluded from sports unless the anomaly has been optimally repaired, the heart size is nearly normal, and no history of arrhythmias exists.

Patients with Ebstein’s anomaly and cardiac failure who are not candidates for surgery are treated with standard heart failure therapy, including diuretics and digoxin. The efficacy of angiotensin-converting enzyme inhibitors in patients with Ebstein’s anomaly who have right-sided heart failure is unproved. Medical management of arrhythmias should be individualized and combined with operative or catheter-based intervention.

Catheter Ablation
Electrophysiological evaluation and radiofrequency ablation of symptomatic accessory pathway(s) should be performed when feasible in patients with Ebstein’s anomaly who have tachyarrhythmias. Catheter ablation has a lower success rate in patients with the anomaly than in those with structurally normal hearts, and the risk of recurrence is increased.^46,52–54 Supraventricular tachyarrhythmia associated with Ebstein’s anomaly also can be ablated at the time of operative repair.^55,56

Surgical Options
In 1959, repair of the tricuspid valve was reported in 2 patients who had Ebstein’s anomaly; both died.⁵⁷ Successful operative intervention for regurgitation of the tricuspid valve in patients with the anomaly was first described in 1962; the valve was replaced.⁵⁸ The initial publication on patients with Ebstein’s anomaly undergoing tricuspid valve replacement reported a surgical mortality of 54%.⁴⁹ Similar high early mortality and unsatisfactory late results for tricuspid valve repair by the methods available at that time were described.^57,59

Between April 1972 and January 2005, 540 consecutive patients with Ebstein’s anomaly were operated on at Mayo Clinic Rochester. The age at operation ranged from 2 months to 79.1 years (median, 20 years). Of those having a tricuspid valve procedure, valve reconstruction was possible in 34.4%, and valve replacement (usually bioprosthesis) was performed in 65.6%. There were 29 early deaths (5.4%). Late results of the first 323 operations have been reviewed.⁶⁰ There were 23 late deaths (7.6%) during a follow-up extending to 25 years (mean, 7.1 years).

Our initial repair technique reported in 1979 consisted of plication of the free wall of the atrialized portion of the right ventricle, posterior tricuspid annuloplasty, and right reduction atrioplasty.⁶¹ The repair is based on the construction of a monocuspid valve using the anterior leaflet. Since the initial report, we have incorporated various modifications of tricuspid valve repair, depending on the numerous variants encountered with the anatomy of Ebstein’s anomaly.^14,62 Our current repair usually involves bringing the anterior papillary muscle(s) toward the ventricular septum, thus facilitating coaptation of the leading edge of the anterior leaflet with the ventricular septum (Figure 8). Generally, an anteroposterior tricuspid purse-string annuloplasty is used, and atrialized right ventricular plication or resection is performed selectively. This results in a tricuspid valve repair at the level of the functional annulus, in contrast to our original repair, which brought the functional annulus up to the true annulus. We believe the 2 most important features that enable a successful, durable repair are a free leading edge of the anterior leaflet and at least 50% delamination of the anterior leaflet.

View larger version (57K): [in this window] [in a new window]   Figure 8. Diagram of the tricuspid valve repair technique currently used for Ebstein’s anomaly. A, Two papillary muscles arise from the free wall of the right ventricle, with short chordal attachments to the leading edge of the anterior leaflet. The septal leaflet is diminutive and only a ridge of tissue. The posterior leaflet is not well formed and is adherent to the underlying endocardium. A small patent foramen ovale is present. B, C, The base of each papillary muscle is moved toward the ventricular septum at the appropriate level with horizontal mattress sutures backed with felt pledgets. The patent foramen ovale is closed by direct suture. D, The posterior angle of the tricuspid orifice is closed by bringing the right side of the anterior leaflet down to the septum and plicating the nonfunctional posterior leaflet in the process. E, A posterior annuloplasty is performed to narrow the diameter of the tricuspid annulus. The coronary sinus marks the posterior and leftward extent of the annuloplasty. F, An anterior purse-string annuloplasty is performed to further narrow the tricuspid annulus. This annuloplasty stitch is tied down over a 25-mm valve sizer in an adult to prevent tricuspid stenosis. G, Completed repair that allows the anterior leaflet to function as a monocuspid valve. From Dearani et al.63 Used with permission of Mayo Foundation for Medical Education and Research.

In 1988, Carpentier et al¹⁸ proposed a repair that used mobilization of the anterior leaflet of the tricuspid valve. For their types B and C, temporary detachment of the anterior leaflet and adjacent part of the posterior leaflet was followed by longitudinal plication of the atrialized ventricle and adjacent right atrium, repositioning of the anterior and posterior leaflets to cover the orifice area at the normal level, and remodeling and reinforcement of the tricuspid annulus with a prosthetic ring. This repair was reported in 191 patients (mean±SD age, 24±15 years).⁶⁴ The early mortality rate was 9%, and the mean late survival rate at 20 years was 82%±5%. It is unclear whether late problems will develop because of devitalized tricuspid valve tissue related to reattachment.

Another repair technique is characterized by reintegration of the atrialized chamber into the right ventricular cavity (called ventricularization). Ventricularization can be obtained by orthotopic transposition of the detached septal and posterior leaflets of the tricuspid valve. The reimplanted septal leaflet serves as an opposing structure for coaptation of the reconstructed atrioventricular valve.⁶⁵

Posterior annular plication without plication of the atrialized right ventricle and prophylactic cavopulmonary connection are additional surgical options for nonneonatal Ebstein’s anomaly; however, no long-term follow-up data are available.⁶⁶ The benefit of adding a bidirectional cavopulmonary shunt after tricuspid valve repair or replacement to reduce right ventricular volume load in selected patients with Ebstein’s anomaly is unclear. We use the bidirectional cavopulmonary shunt when the right ventricle is markedly dilated and functioning poorly. This allows a reduced volume load on the right ventricle and improves preload to the left ventricle. Left atrial and pulmonary artery pressures must be low for the shunt to provide hemodynamic benefit. In our experience, a modified Fontan procedure is very rarely required for patients with Ebstein’s anomaly who present after infancy.

It has not been shown whether tricuspid valve repair or replacement has the better long-term outcome, nor is it known whether bioprostheses are preferable to mechanical prostheses for tricuspid valve replacement in Ebstein’s anomaly. One study has suggested that valve repair is less durable in adults than in children.⁶⁷ It is known that tricuspid bioprostheses in Ebstein’s anomaly have greater durability than in other cardiac positions, especially for pediatric patients; the mean rate of freedom from bioprosthesis replacement was 80.6±7.6% in a study with up to 17.8 years of follow-up (mean, 4.5 years).⁶⁸ In a series of 294 patients with Ebstein’s anomaly, the difference in freedom from reoperation at 12 years for tricuspid valve repair versus replacement and for bioprosthetic versus mechanical valve prostheses was not significant.⁶⁸ Currently, we prefer valve repair, when feasible, over valve replacement because repair has the potential of being more durable and avoids the potential complications of valve prostheses. Some of our early patients are doing well, free of reoperation >20 years after valve repair. We generally prefer bioprostheses over mechanical prostheses for Ebstein’s anomaly, reserving the latter for those who are already taking anticoagulants for another indication.¹⁴ The method we currently use for tricuspid valve replacement in Ebstein’s anomaly is shown in Figure 9.

View larger version (81K): [in this window] [in a new window]   Figure 9. Diagram of technique for tricuspid valve replacement in Ebstein’s anomaly. A, The valve suture line is placed on the atrial side of the membranous septum and atrioventricular (AV) node to avoid injury to the conduction system. The suture line is also deviated cephalad to the tricuspid annulus posterolaterally when the tissues are thin to avoid injury to the right coronary artery. When sufficient distance between the coronary sinus and the AV node exists, the coronary sinus may be left on the atrial side of the suture line. B, The sutures are tied with the heart perfused and beating to ensure that a conducted rhythm is preserved. From Dearani et al.63 Used with permission of Mayo Foundation for Medical Education and Research.

Although a decrease in atrial tachyarrhythmias after standard repair of Ebstein’s anomaly generally has been noted,⁶⁹ we prefer to combine repair with directed antiarrhythmia procedures.^14,53,56 This can be accomplished without an increase in operative mortality and with freedom from arrhythmia recurrence in 75% of patients with atrial flutter or fibrillation and in up to 100% of patients with accessory pathway–mediated tachycardia or atrioventricular nodal reentry tachycardia.^55,70

Symptomatic neonates with Ebstein’s anomaly have a poor prognosis. Marked cardiac enlargement, advanced echocardiographic severity score, cyanosis, and severe regurgitation of the tricuspid valve all predict neonatal death without surgery.^19,71 Biventricular repairs in combination with correction of all associated cardiac defects are feasible, and midterm results are good.⁷¹ Conversion to a single-ventricle approach for symptomatic neonates also has been advocated.⁷² Results of tricuspid valve repair in young children have been reported and demonstrate low early mortality and good durability at late follow-up.⁷³

Indications for Operation
Observation alone is advised for asymptomatic patients with no right-to-left shunting and only mild cardiomegaly. Children who have survived infancy generally do well for several years, and surgery can be postponed until symptoms appear, cyanosis becomes evident, or paradoxical emboli occur. Deliberations about an operation should begin if evidence of deterioration exists, such as progressive increase in right heart size, reduction in systolic function, or appearance of ventricular or atrial tachyarrhythmias. However, once symptoms progress to New York Heart Association functional class III or IV, medical management has little to offer, surgical risks increase, and operation is clearly indicated. A biventricular reconstruction is feasible for most patients. A 1.5 ventricle repair can be applied to the failing right ventricle. Heart transplantation is reserved for patients with severe biventricular dysfunction.

Some patients with cyanosis on exercise who have a shunt at the atrial level but only mild or moderate regurgitation of the tricuspid valve may benefit from device closure to alleviate cyanosis and to prevent paradoxical emboli. Some centers commonly perform such procedures either as a staged approach or for long-term palliation.⁷⁴ The degree of tricuspid valve regurgitation must be assessed carefully, however, because closure of an atrial septal defect alone may worsen right ventricular dysfunction.

Pacing
Permanent pacing is required for 3.7% of patients with Ebstein’s anomaly, most commonly for atrioventricular block and rarely for sinus node dysfunction.⁷⁵ In the presence of a tricuspid valve prosthesis, the ventricular lead for permanent DDD pacing usually is placed epicardially or through the coronary sinus or a cardiac vein. Alternatively, a previously placed transvenous ventricular lead may be sutured outside the prosthesis sewing ring at the time of valve replacement. Placement of a transvenous ventricular lead through a bioprosthesis is effective but less desirable because of the possibility of propping open one of the valve cusps, thus creating regurgitation of the tricuspid valve. This complication can be minimized by use of transesophageal echocardiographic monitoring to ensure that the lead lies safely in a commissure between the valve cusps.

	Natural History and Long-Term Sequelae

Top Introduction Pathological Anatomy Nomenclature and Classification Prevalence and Genetic Factors Associated Cardiac Malformations... Physiology Clinical Features Diagnostic Evaluation Management Natural History and Long-Term... Conclusions References

 
Several studies have reported on the natural history of Ebstein’s anomaly.^49,76–78 The largest of these studies, reporting on 505 patients with Ebstein’s anomaly, was published >30 years ago.⁴⁹ The study consisted primarily of patients between 1 and 25 years of age, with 67 patients >25 years and only 35 patients <1 year of age. Of the infants <1 year of age, 72% were in heart failure, but for 81% of the others, growth and development during infancy were average or good. In addition, 71% of children and adolescents and 60% of adults were classified as New York Heart Association functional class I or II.⁴⁹ A high mortality rate from congestive heart failure was noted during the first few months of life; subsequently, mortality plateaued at an average of 12% scattered uniformly throughout childhood and adolescence. Of those who had surgical treatment, 54% did not survive the operation. This study was published before the echocardiographic era and thus does not reflect the current Ebstein’s anomaly population.

Of all neonates with the diagnosis of Ebstein’s anomaly, 20% to 40% do not survive 1 month, and <50% survive to 5 years.^79–82

Celermajer et al¹⁹ reviewed 220 cases of Ebstein’s anomaly with 1 to 34 years of follow-up. Actuarial survival for all live-born patients was 67% at 1 year and 59% at 10 years. Predictors of death were echocardiographic grade of severity at presentation (relative risk increased by 2.7 for each increase in grade), fetal presentation, and right ventricular outflow tract obstruction.

In rare cases, patients with Ebstein’s anomaly live >70 years, but 1 reported patient died at 85 years of age.³⁸ A reassessment of the prognosis of Ebstein’s anomaly is appropriate in the current era of refined cardiovascular intervention.

	Conclusions

Top Introduction Pathological Anatomy Nomenclature and Classification Prevalence and Genetic Factors Associated Cardiac Malformations... Physiology Clinical Features Diagnostic Evaluation Management Natural History and Long-Term... Conclusions References

 
Ebstein’s anomaly is a complex congenital anomaly with a broad anatomic and clinical spectrum. Management is complex and must be individualized. Precise knowledge about the different anatomic and hemodynamic variables, associated malformations, and management options is essential. Thus, it is important that patients with Ebstein’s anomaly be evaluated regularly by a cardiologist who has expertise in congenital heart disease.^83–85 With better management strategies, it is hoped that survival of patients with this anomaly of all ages will continue to improve.

	Acknowledgments

 
Editing, proofreading, and reference verification were provided by the Section of Scientific Publications, Mayo Clinic.

Disclosures

None.

	Footnotes

 
Dr Danielson is an emeritus member, Division of Cardiovascular Surgery, Mayo Clinic, Rochester, Minn.

This article is based in part on a previously published manuscript.¹ Used with permission.

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Top Introduction Pathological Anatomy Nomenclature and Classification Prevalence and Genetic Factors Associated Cardiac Malformations... Physiology Clinical Features Diagnostic Evaluation Management Natural History and Long-Term... Conclusions References

 

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