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Ebstein anomaly: Management and prognosis

Ebstein anomaly: Management and prognosis
Literature review current through: Jan 2024.
This topic last updated: Sep 15, 2023.

INTRODUCTION — Ebstein anomaly is a congenital malformation that is characterized primarily by abnormalities of the tricuspid valve and right ventricle (figure 1). The clinical presentation of Ebstein anomaly varies widely, ranging from fetal recognition or the symptomatic neonate to the asymptomatic adult, depending upon the degree of anatomic abnormality and concomitant lesions (eg, atrial septal defect). The management and prognosis of Ebstein anomaly are discussed here.

The clinical manifestations and diagnosis of Ebstein anomaly are discussed separately. (See "Ebstein anomaly: Clinical manifestations and diagnosis".)

MANAGEMENT

Approach to management — The approach to the management of patients with Ebstein anomaly is determined by the patient's age and clinical presentation including the presence of symptoms of heart failure secondary to tricuspid regurgitation and right heart failure, cyanosis, and right ventricular dilation or dysfunction. The components of management are monitoring, medical management (including temporizing relief of symptoms prior to surgery), management of arrhythmias, and surgical or catheter intervention. Many patients with Ebstein anomaly have no symptoms and require only monitoring while others are symptomatic and require supportive medical therapy and surgical intervention.

All patients with Ebstein anomaly should undergo periodic monitoring, preferably by a congenital cardiovascular specialist. (See 'Monitoring' below.)

Indications for intervention or surgical repair of children and adults with Ebstein anomaly include worsening heart failure (HF), progressive cyanosis or uncontrolled arrhythmias. Surgical repair may also be considered if there is decline in functional capacity with evidence of right ventricular (RV) dysfunction and/or hypoxia. Occasionally, asymptomatic adult patients with severe tricuspid valve regurgitation and repairable tricuspid valves are considered for early repair to prevent progressive right heart enlargement.

For the newborn with Ebstein anomaly presenting with cyanosis or heart failure, advanced medical management is preferred to delay surgery as long as possible. (See 'Management of symptomatic newborn' below and 'For neonates' below.)

Most symptomatic children with Ebstein anomaly are referred for surgical intervention, although some children with heart failure may require medical stabilization prior to corrective surgery. (See 'Management of symptomatic child' below and 'For children' below.)

Some adults with Ebstein anomaly with an indication for surgical intervention require medical therapy to stabilize heart failure prior to surgery. (See 'Management of symptomatic adult' below and 'For children' below.)

Liver function should be monitored in adults with Ebstein anomaly and long-standing severe tricuspid regurgitation. Some patients with long-standing right atrial hypertension develop cardiac cirrhosis and are at risk for hepatocellular carcinoma [1].

In children and adults, the clinical presentation of arrhythmias, identification of an accessory pathway, and findings on the electrophysiologic study are used to guide radiofrequency catheter ablation or less commonly surgical ablation of atrioventricular accessory pathway(s). (See 'Arrhythmia treatment' below.)

Monitoring — All patients with Ebstein anomaly should undergo periodic monitoring to determine the need for medical therapy, surgical, or catheter intervention or surgical re-intervention [2].

The time interval for monitoring varies with the severity of the disease and the physiological stage of the patient [2]. For asymptomatic adults, the recommendation is monitoring every 12 months for patients with severe tricuspid regurgitation (sooner if the right ventricle is dilated), and every one to two years for adults with mild to moderate tricuspid regurgitation [2]. Additional evaluation is indicated if the patient develops new cardiovascular symptoms or signs.

Monitoring should include the following:

Clinical assessment for evidence of heart failure, cyanosis, and exercise tolerance (including exercise testing with oximetry when appropriate).

Assessment for arrhythmias (atrial, ventricular, and accessory pathway-related reentrant arrhythmia), with at least annual electrocardiogram (ECG) and 24-hour ambulatory (Holter) or prolonged ECG monitor for assessment of symptomatic palpitations.

Comprehensive transthoracic echocardiography to assess the severity of tricuspid regurgitation, right ventricular size and function, left ventricular size and function, and intracardiac shunt.

Cardiovascular magnetic resonance (CMR) imaging is helpful for serial assessments of RV size and systolic function. In adults, CMR imaging is recommended every one to two years in symptomatic patients and every three to five years in asymptomatic patients [2].

Medical management

Pharmacologic therapy for heart failure and cyanosis

Management of symptomatic newborn — Medical management in a newborn with cyanosis or heart failure is limited to supportive therapy until the pulmonary vascular resistance drops and normalizes with time. In the symptomatic newborn, inhaled nitric oxide may be helpful in reducing pulmonary vascular resistance and improving antegrade pulmonary blood flow [3]. Critically ill newborns may require inotropic support for stabilization until surgical intervention is performed or there is clinical improvement. Milrinone is most beneficial in this setting as it has an inotropic, as well as pulmonary vasodilator effect that allows reduction of pulmonary vascular resistance, augmenting the pulmonary blood flow. Epinephrine and other catecholamines should be avoided, as these may predispose to tachyarrhythmia in the setting of stretched right atrium and/or accessory pathway(s).

In case of extreme cyanosis, as noted in patients with functional or anatomic pulmonary valve atresia, prostaglandin E1 (also known as alprostadil) infusion is indicated to keep the ductus arteriosus open and increase pulmonary blood flow until the pulmonary vascular resistance drops. (See "Diagnosis and initial management of cyanotic heart disease in the newborn", section on 'Prostaglandin E1'.)

However, if pulmonary valve regurgitation is also present, initiation of prostaglandin E1 may result in high output failure due to the creation of a circular shunt, ie, blood flows from left ventricle to aorta to pulmonary artery (through ductus arteriosus) and then, retrograde through pulmonary valve, right ventricle and tricuspid valve, across the atrial septum, and back into the left ventricle and aorta. Despite it being a high output state, the presence of circular shunt results in low systemic output. If a circular shunt develops, prostaglandin E1 infusion should be terminated and surgical or device closure of the patent ductus arteriosus may be required. The presence of concomitant pulmonary regurgitation in newborns with Ebstein anomaly carries a poor prognosis.

Management of symptomatic child — Most symptomatic children will undergo surgical repair before requiring any medical therapy. Infants and children with heart failure may be stabilized temporarily with inotropic agent(s). Milrinone is preferred if inotropic support is needed. Catecholamines are generally avoided, as they can precipitate tachyarrhythmias. Digoxin and loop diuretics can be used, if needed. Management of heart failure in infants and children is discussed separately (See "Heart failure in children: Management".)

Management of symptomatic adult — Surgery is indicated in adults with symptoms of heart failure, and medical therapy is generally used only for temporary stabilization. Medical management of symptomatic adult Ebstein patients includes diuretic therapy for volume overload related to right heart failure, control of heart rhythm abnormalities, and standard medical therapy for left ventricular systolic dysfunction.

Antithrombotic therapy — Standard indications for antithrombotic therapy and other management apply to adults with Ebstein anomaly and atrial fibrillation (including anticoagulation to prophylax against embolic stroke and other thromboembolic events), paradoxical embolism, deep vein thrombosis, or at bedrest with an acute illness, as discussed separately. (See "Atrial fibrillation in adults: Selection of candidates for anticoagulation" and "Atrial fibrillation in adults: Use of oral anticoagulants" and "Atrial septal abnormalities (PFO, ASD, and ASA) and risk of cerebral emboli in adults" and "Stroke associated with patent foramen ovale (PFO): Management" and "Overview of the treatment of proximal and distal lower extremity deep vein thrombosis (DVT)" and "Prevention of venous thromboembolic disease in acutely ill hospitalized medical adults".)

For adults with Ebstein anomaly and known interatrial shunt (eg, PFO or small ASD) without other indication for anticoagulation, the role for long-term anticoagulation has not been established. Filters should be employed on any intravenous lines to decrease the risk of paradoxical air embolism.

Management options for adults to prevent thromboembolism during travel (such as long-haul flights) are discussed separately. (See "Prevention of venous thromboembolism in adult travelers".)

Endocarditis prophylaxis — Endocarditis prophylaxis is suggested in cyanotic patients with Ebstein anomaly, in patients with prosthetic cardiac valves or with prosthetic material used for cardiac valve repair, and in those with a prior history of endocarditis. Endocarditis prophylaxis is not recommended in acyanotic patients with Ebstein anomaly who have no history of valve replacement or prior endocarditis [4]. (See "Prevention of endocarditis: Antibiotic prophylaxis and other measures", section on 'Rationale'.)

Exercise — Although there is wide variability in the severity of Ebstein anomaly, important and/or symptomatic arrhythmias, often during exercise, can occur even in mild cases. Severe cases can be associated with physical disability and an increased risk for sudden cardiac death with exercise [5].

We agree with the following recommendations from the 2015 American Heart Association and American College of Cardiology scientific statement for competitive athletes with congenital heart disease [6]:

Patients with functionally mild to moderate Ebstein anomaly (ie, no cyanosis, normal right ventricular size, moderate or less tricuspid regurgitation, and no atrial or ventricular arrhythmias) may consider participation in all sports.

Patients with Ebstein anomaly with severe tricuspid regurgitation but without evidence of arrhythmias on ambulatory electrocardiographic monitoring (except isolated premature contractions) may be considered for participation only in low-intensity class IA sports (figure 2).

As noted in the scientific statement, for patients with Ebstein anomaly who also have evidence of pre-excitation or who have a defibrillator, additional recommendations regarding participation in sports apply.

The 2015 scientific statement did not provide recommendations for athletes with tricuspid valve repair or replacement. We agree with the following recommendation from the 2005 36th Bethesda Conference on Eligibility Recommendations for Competitive Athletes with Cardiovascular Abnormalities for patients with Ebstein anomaly [7]: For the patient with Ebstein anomaly who has undergone surgical repair, low-intensity competitive sports (class IA) (figure 2) can be permitted if tricuspid regurgitation is absent or mild, cardiac chamber size on chest radiograph or by echocardiography is not substantially increased, and symptomatic atrial or ventricular tachyarrhythmias are not present on ambulatory ECG monitoring and exercise test. However, some patients with an excellent hemodynamic result after repair may be permitted additional participation on an individual basis.

The general issue of the risk of sudden cardiac death in athletes is discussed separately. (See "Athletes: Overview of sudden cardiac death risk and sport participation".)

Arrhythmia treatment — Treatment of atrial arrhythmias depends on the rhythm and substrate. An electrophysiologic study is frequently performed to identify accessory pathways. Children less than four years old who have supraventricular tachycardia or an accessory conduction pathway can be managed on oral beta blocker therapy until they are old enough to undergo catheter ablation [8]. Catheter ablation or less commonly surgical ablation of atrioventricular accessory pathway(s) is suggested in symptomatic patients [9-11]. Medical management with anti-arrhythmic drugs can be used temporarily. Since an interatrial shunt is frequently present, paradoxical embolism is a potential risk of catheter ablation. Atrial tachyarrhythmias (fibrillation and flutter) can also be treated with a right-sided or biatrial Maze procedure at the time of surgical repair. A biatrial Maze procedure may be preferable to catheter-based ablation for persistent or permanent atrial fibrillation/flutter [12]. (See "Treatment of arrhythmias associated with the Wolff-Parkinson-White syndrome" and "Atrial fibrillation: Surgical ablation".)

A registry study published in 1998 evaluated 65 patients with Ebstein anomaly and showed that a single accessory pathway was present in 52 percent, multiple accessory pathways in 29 percent, and arrhythmias unrelated to an accessory pathway in 18 percent [10]. The acute success rate of radiofrequency ablation for patients with single pathway was 77 percent (26/34 patients) and for multiple pathways the success rate was 90 percent (17/19 patients). Ablation of a right free wall or right septal pathway was initially successful in 79 and 89 percent, respectively; however, the recurrence rate was 32 and 29 percent. Among those with arrhythmias unassociated with an accessory pathway, ablation was initially successful in 75 percent, and 27 percent had recurrence.

A later multicenter study that reported on catheter ablations in 32 patients with Ebstein anomaly [13] confirmed that patients with Ebstein anomaly often have multiple arrhythmogenic substrates; the most frequent ablation targets were accessory pathways, followed by macroreentrant atrial circuits. Further, arrhythmia recurrence is frequent after ablation due to conduction recovery. A single-center study showed high diagnostic and therapeutic yield of preoperative electrophysiology study in patients with Ebstein anomaly, aged 0.2 to 56 years [14]. Based on this study, many centers are performing routine preoperative electrophysiology studies to identify arrhythmias and accessory conduction pathways; ablation of accessory pathways prior to surgical repair is generally suggested as catheter-based ablation becomes challenging after the area around the accessory pathway has been plicated or the tricuspid valve has been replaced.

Success rates may have further improved with technical advances for electroanatomic mapping and ablation techniques.

Indications for arrhythmia surgery (surgical ablation of accessory pathways or a Maze procedure) concomitant with tricuspid valve repair or replacement and atrial septal defect (ASD) closure are atrial and/or ventricular arrhythmias not amenable to percutaneous treatment and ventricular preexcitation not successfully treated in the electrophysiology lab. (See "Treatment of arrhythmias associated with the Wolff-Parkinson-White syndrome", section on 'Treatment to prevent recurrent arrhythmias'.)

Management of pregnancy

Risks and outcomes — Pregnancy poses a risk of heart failure, cyanosis, and arrhythmia in the patient with Ebstein anomaly. Right ventricular volume overload is augmented by the increase in intravascular volume and cardiac output during pregnancy [15-17]. Cyanosis due to an intracardiac right-to-left shunt may first become manifest during pregnancy because of the rise in right ventricular filling pressure. The right-to-left intracardiac shunt increases the risk of paradoxical embolization, and hypoxemia increases the fetal risk [16-19]. (See "Atrial septal abnormalities (PFO, ASD, and ASA) and risk of cerebral emboli in adults", section on 'Paradoxical emboli'.)

Arrhythmia risk is also increased during pregnancy in Ebstein anomaly due to predisposition, such as accessory conduction pathway as well as the pregnancy-related physiologic and hormonal changes [20]. The presence of an accessory pathway establishes a precondition for rapid ventricular rates in response to atrial fibrillation or atrial flutter with potentially catastrophic consequences. (See "Atrioventricular reentrant tachycardia (AVRT) associated with an accessory pathway".)

Despite these concerns, acyanotic women with Ebstein anomaly usually tolerate pregnancy well [16-18,21,22]. A literature review of studies published between 1985 and 2007 found the following rates of complications during completed (>20 weeks gestation) pregnancies among women with Ebstein anomaly (combined repaired and unrepaired): arrhythmias in 5 of 127 pregnancies (3.9 percent); heart failure in 4 of 127 pregnancies (3.1 percent); and no cardiovascular events (myocardial infarction, stroke, and cardiovascular mortality) in the majority (128) of pregnancies [22].

There are significant fetal risks associated with Ebstein anomaly. These include an increased incidence of prematurity, fetal wastage, and congenital heart disease. The severity of maternal cyanosis and reduced cardiac output may impact the outcome of pregnancy. The above-cited review reported the rates of fetal complications among completed (>20 weeks gestation) pregnancies: premature delivery occurred in 28 of 127 pregnancies (22 percent), fetal mortality rate in none of 128 pregnancies, and perinatal mortality in 3 of 128 pregnancies (2.3 percent) [22]. Birth weights are lower in infants born to cyanotic women [18].

The reported risk during pregnancy [18] is appreciably reduced after surgical repair of Ebstein anomaly or catheter ablation of accessory pathways. Closure of the interatrial communication eliminates the risk of paradoxical embolization and the fetal risk of maternal cyanosis. However, the risk of congenital heart disease in the fetus remains.

In the presence of maternal Ebstein anomaly, the rate of recurrence of congenital heart disease (of any type) in offspring was 4 percent (5 of 126) [22]. Paternal Ebstein anomaly may also slightly increase the risk of congenital heart disease in the offspring (observed rate of 1 percent) [18].

Approach to management — Our approach to the patient with Ebstein anomaly with regard to pregnancy is to perform a comprehensive preconception risk assessment to assess potential risk associated with pregnancy, frequency of follow-up during pregnancy, and anticipated location where the patient will be delivered using the modified World Health Organization (WHO) risk score assessment [16]. Preconception risk stratification includes clinical assessment, evaluation of heart rhythm, and oxygen saturation at rest and with exercise. A comprehensive echocardiogram is also performed before pregnancy. We then counsel the patient and partner about the pregnancy risks and adjust medical therapy as needed.

Once the patient becomes pregnant, we see the patient to confirm that pregnancy is being tolerated, plan additional visits as needed, and review the delivery plan. A fetal echocardiogram is recommended around 18 to 22 weeks gestation. More frequent obstetric ultrasounds for fetal well-being may be indicated. The frequency of comprehensive echocardiography during pregnancy is individualized. Some patients require frequent follow-up, and others require minimal cardiovascular care during pregnancy. The patient with an ASD or patent foramen ovale (PFO) requires special care and monitoring; some of these patients experience oxygen desaturation during pregnancy, which can adversely affect fetal growth and well-being. The presence of an ASD or PFO also increases the risk of paradoxical embolism. Rarely, an ASD or PFO may need to be closed during pregnancy due to worsening functional status and cyanosis [23].

Surgical or catheter intervention

Indications for surgery — Patients with Ebstein anomaly commonly require surgical repair. In a study of 530 patients with Ebstein anomaly (median age 0.8 years at diagnosis) in Danish and Swedish registries, 228 patients (43 percent) underwent surgical repair during median 11-year follow-up [24]. In a series of 220 patients with 1 to 34 years of follow-up, 86 percent eventually required surgery [25]. The main indications were severe symptoms or less severe symptoms in patients with cardiomegaly, which is associated with a poor prognosis [5].

For neonates — In general, surgical repair of Ebstein anomaly should be avoided in the newborn period, as the risk of mortality is high (10 to 25 percent) [26-28]. For most symptomatic neonates with Ebstein anomaly, supportive medical management with advanced neonatal intensive care is preferable to delay surgery for as long as possible. However, surgery may be necessary for those who are unable to be weaned from the ventilator or have persistent metabolic abnormalities such as severe cyanosis or acidosis.

We suggest surgical repair in the neonate with Ebstein anomaly with one or more of the following conditions:

Severe persistent cyanosis.

Great Ormond Street Score (GOSE) score 3 or 4 with mild cyanosis. The GOSE score is commonly used for echocardiographic evaluation of the neonate. This score is defined as the ratio of the area of the right atrium and atrialized right ventricle to the combined area of the functional right ventricle, left atrium, and left ventricle. (See "Ebstein anomaly: Clinical manifestations and diagnosis", section on 'GOSE score (Celermajer index)'.)

Cardiothoracic ratio >80 percent.

Severe tricuspid regurgitation with persistent right heart failure.

For children — We recommend surgical tricuspid repair with concomitant ASD closure for children with Ebstein anomaly with one or more of the following conditions:

Heart failure symptoms

Deteriorating exercise capacity

Progressive right ventricular dysfunction on imaging

For adults — We recommend surgical tricuspid valve repair or replacement with concomitant ASD closure for adults with Ebstein anomaly with one or more of the following conditions, as recommended in the 2018 American College of Cardiology/American Heart Association adult congenital heart disease guidelines [2]:

Heart failure symptoms

Deteriorating exercise capacity

Progressive right ventricular dysfunction on imaging

Surgical intervention may be beneficial in patients with:

Cyanosis (oxygen saturation less than 90 percent) from right-to-left atrial level shunt

Paradoxical embolism

Progressive right ventricular dilation on imaging

Atrial tachyarrhythmia

In addition, for children and adults with severe tricuspid valve regurgitation and a tricuspid valve that is amenable to repair with low operative risk of mortality (eg, <1 percent), we favor surgical repair. This recommendation is based upon our institutional experience and is done in an effort to prevent adverse right heart remodeling, which occurs with long-standing severe tricuspid valve regurgitation [29].

Evidence — Evolving surgical interventions and heterogeneity in outcomes among surgical centers must be considered when considering the available evidence on management of Ebstein anomaly for individual decision-making and surgical referral. Limited observational evidence is available to guide the management of patients with Ebstein anomaly. Surgical repair techniques have evolved markedly over the past two decades and thus comparison between different series is challenging. Outcomes after surgical repair procedures are dependent on the experience of the surgical center and vary between different centers. Most reported series are derived from large centers with extensive experience and may not be applicable to smaller centers with less experience. For example, in a European multicenter study, operative mortality was 13.3 percent, which was higher than in most larger single-center studies [30-32].

Observational data suggest that survival is increasing as advances in diagnostic, surgical techniques, and postoperative care have led to improvements in outcomes. This was illustrated in a report of 158 patients who received a primary tricuspid bioprosthesis [33]. Ten-year survival was 93 percent with freedom from bioprosthesis replacement at 10 and 15 years of 98 and 81 percent, respectively; 92 percent were New York Heart Association (NYHA) class I or II and 94 percent were not receiving anticoagulation [34].

Similar results were noted in a review of 60 patients who underwent surgical repair of the tricuspid valve [35]. Hospital mortality was 3 percent, actuarial survival was 97 and 83 percent at one and 18 years, respectively, and 94 percent of survivors were NYHA class I or II [34].

Studies of surgical intervention have found that the presence of more than moderate right ventricular dysfunction was the only independent predictor of early mortality after surgical intervention [30]. In the setting of severe tricuspid regurgitation, right ventricular myocardial contractility and postoperative right ventricular systolic function may be markedly overestimated by measurements of preoperative right ventricular ejection fraction. For this reason, we suggest surgical intervention before the development of significant right heart enlargement, hoping to prevent progressive right ventricular dysfunction. At experienced centers, the standard surgical repair can be performed with low mortality and excellent durability [36]. In the published report from our institution, 84 patients underwent surgical repair of Ebstein anomaly at a mean age of 10 ± 6 years. There was one early death and three patients required early reoperation. In a different report describing 81 patients with Ebstein anomaly over 50 years of age, 89 surgical procedures were performed [37]. Tricuspid valve replacement was done in 65 (73 percent) and repair was performed in only 22 (25 percent) patients. There were three early deaths. Most patients (89 percent) had improved functional class on long-term follow-up. The 20-year survival for this cohort was 65 versus 74 percent for age and sex-matched controls. Lack of postoperative improvement in functional capacity and older age at the time of surgery were the best predictors of late death. As outlined above, surgical results may differ between centers, and this has to be taken into account in individual decision-making.

Procedure

Options — Surgical repair includes tricuspid valvuloplasty or replacement, selective plication of the atrialized right ventricle, closure of intracardiac shunts, right reduction atrioplasty, and arrhythmia procedures in select patients. Whenever possible, repair of the tricuspid valve is undertaken since it is associated with lower mortality and fewer long-term complications than tricuspid valve replacement [35,38].

Subtotal closure of the atrial septal defect is preferred when biventricular repair is performed in the symptomatic neonate.

As noted above, concomitant arrhythmia surgery is indicated for arrhythmias or pre-excitation not amenable to percutaneous treatment.

Contemporary repair techniques focus on a cone-type of reconstruction. This includes mobilization of all available leaflets and joining them to result in 360 degrees of leaflet tissue that is re-anchored at the level of the true annulus [39]. The atrialized right ventricle (inferior wall) is vertically plicated.

Several other repair techniques, involving annuloplasty and/or ventricular plication, have also been described [38,40-43].

If tricuspid repair is not possible and the patient has reached adult size, tricuspid valve replacement becomes necessary [44]. A biologic prosthesis is preferred because of the high incidence of thrombosis with a mechanical prosthesis placed in the right heart, particularly when the right ventricular function is poor [33]. A porcine valve prosthesis is preferred rather than a pericardial valve prosthesis since it functions better in a low flow setting and is less likely to thrombose. The prosthesis is usually placed in an intraatrial position in order to avoid injury to the right coronary artery or the exposed conduction tissue.

For infants

Surgical repair in the neonate consists of a biventricular repair or the single-ventricle repair. Selection is primarily determined by tricuspid anatomy and surgeon and institution experience.

Biventricular repair includes repair of the tricuspid valve and partial closure of the ASD. Approaches for tricuspid valvuloplasty include monocusp repair. Selective plication of the right ventricle is performed and generous right reduction atrioplasty is routine to allow room for the compressed lungs.

The single-ventricle pathway consists of fenestrated patch closure of the tricuspid valve, atrial septectomy, and a systemic-to-pulmonary artery shunt. Subsequent operations then include a bidirectional cavopulmonary anastomosis at four to six months of age and completion Fontan at two to four years of age [45,46]. (See "Hypoplastic left heart syndrome: Management and outcome", section on 'Surgical management'.)

For infants beyond three months of age with severe right heart failure with significant right ventricular enlargement and dysfunction, a 1.5 ventricle repair is preferred [47]. This involves a two-ventricle repair plus bidirectional cavopulmonary shunt. This results in reduction of the systemic venous volume load to the dysfunctional right ventricle and provides a guaranteed preload to the left ventricle. This has been shown to reduce early mortality in many series [47,48].

For children and adults

Surgical intervention — Biventricular repair is generally the procedure of choice for children and adults [29]. Biventricular repair includes repair of the tricuspid valve and complete or partial closure of the ASD. However, for patients with advanced symptoms of right heart failure with significant right ventricular enlargement or dysfunction, a 1.5-ventricle repair is preferred. Importantly, a low pulmonary vascular resistance is key for normal functioning of a bidirectional cavo-pulmonary anastomosis. In adults with right ventricular systolic dysfunction, preoperative hemodynamic assessment including assessment of pulmonary vascular resistance is mandatory in case a bidirectional cavo-pulmonary anastomosis becomes necessary. Postoperative superior vena cava syndrome is a risk when a bidirectional cavo-pulmonary anastomosis is performed in the setting of elevated pulmonary vascular resistance. Rarely, adults with marked biventricular dysfunction are referred directly to heart transplant rather than primary repair.

Catheter intervention — In selected patients, isolated percutaneous device closure of interatrial communications may be considered to abolish right-to-left shunting in order to improve saturation (at rest or during exercise) and decrease the risk for paradoxical embolism. As interatrial defects may act as a "pop-off valve" for the failing right ventricle, careful hemodynamic assessment prior to device closure is mandatory. This often requires temporary catheter occlusion of the defect with careful monitoring of right ventricular filling pressures at rest and occasionally even with exercise [49,50].

Indications for repeat surgery or intervention after tricuspid valve repair/replacement — For patients with prior tricuspid valve repair or replacement, surgical or transcatheter tricuspid valve re-repair or replacement is recommended in the following settings:

Worsening exercise capacity, or NYHA functional class III or IV symptoms related to recurrent tricuspid valve regurgitation.

Severe tricuspid regurgitation after repair/replacement with symptoms, progressive right ventricular dilation, reduction of right ventricular systolic function, appearance/progression of atrial and/or ventricular arrhythmias, or the presence of cardiac cirrhosis.

Bioprosthetic valve dysfunction with severe stenosis (mean gradient >10 mmHg or significant increase in gradient compared with baseline) and/or associated symptoms or adverse hemodynamics.

Bioprosthetic valve thrombosis or endocarditis should be considered in the differential diagnosis in patients with increased prosthetic valve gradient and further evaluation performed with blood cultures and imaging with transesophageal echocardiography, computed tomography, or both. A trial of anticoagulation with a vitamin K antagonist should be considered if there are features of bioprosthetic valve thrombosis. Patients with dysfunctional bioprosthetic valves may be candidates to undergo implantation of a percutaneous Edwards Sapien (or other) valve (valve-in-valve) [51,52].

In patients with severely impaired preoperative ventricular function, preoperative assessment of potential candidacy for heart transplantation may be appropriate. (See "Heart transplantation in adults: Indications and contraindications", section on 'Indications for cardiac transplantation'.)

Complete atrioventricular block is a complication of tricuspid valve replacement, particularly in less experienced centers.

PROGNOSIS — Among patients with Ebstein anomaly, severe disease is associated with earlier age at presentation, need for early surgical intervention, and worse prognosis [24]. Ebstein anomaly with concurrent congenital heart disease is associated with worse prognosis than isolated Ebstein anomaly [24].

In the above cited study of 530 patients with Ebstein anomaly:

Patients diagnosed with Ebstein anomaly after 10 years of age had a 35-year cumulative mortality rate of 11 versus 4 percent for matched control subjects (hazard ratio [HR] 6; 95% CI 2.7-13.6); patients with Ebstein anomaly diagnosed within the first year of life had a cumulative 35-year mortality rate of 18 percent (HR 36.2; 95% CI 15.5-84.4) [24].

Cumulative mortality was lower for patients diagnosed during 2000 to 2017, compared with those diagnosed between 1970 and 1999 [24]. However, among patients undergoing surgical repair, mortality rates during the two eras were similar.

The most common cause of death was cardiac for both nonoperated patients (84 percent) and operated patients (86 percent). Cardiac death was attributed largely to possible complications of congenital heart disease (68 percent of cardiac deaths in nonoperated patients and 47 percent of cardiac deaths in operated patients); other causes included heart failure (13 percent of all cardiac deaths) and sudden cardiac death (12 percent of all cardiac deaths).

Perinatal mortality rates are high for fetuses, as illustrated by a study of 243 fetuses (mean gestational age 27 weeks) diagnosed with Ebstein anomaly from 2005 to 2011 at 23 centers [53]. The rate of fetal demise was 17 percent, 5 percent were lost at follow-up, and 6 percent were terminated. Of 176 live-born patients, 32 percent died before discharge. Independent predictors at the time of diagnosis of perinatal mortality were gestational age <32 weeks, pulmonic regurgitation, a pericardial effusion, and tricuspid valve annulus z-score.

In a review of 220 patients presenting during fetal-to-adult life between 1958 and 1991, the actuarial survival for all liveborn patients was 67 percent at one year and 59 percent at 10 years [25].

The major causes of death were heart failure, perioperative, and sudden death.

Surgical repair was undertaken at some stage in 86 (39 percent) of patients.

The main predictors of death were echocardiographic grade of severity (relative risk 2.7 for each increase in grade; the grade was based upon the location of displaced tricuspid valve, right ventricular size, and clinical presentation), fetal presentation (relative risk 6.9), and right ventricular outflow tract obstruction (relative risk 2.1).

Among 155 survivors, 83 percent were New York Heart Association class I (table 1) and 67 percent were receiving no medical therapy.

There is limited evidence on the impact of surgery on prognosis, as discussed above. (See 'Evidence' above.)

SOCIETY GUIDELINE LINKS — Links to society and government-sponsored guidelines from selected countries and regions around the world are provided separately. (See "Society guideline links: Arrhythmias in adults" and "Society guideline links: Congenital heart disease in adults".)

SUMMARY AND RECOMMENDATIONS

Medical management in a newborn with cyanosis is best optimized with supportive therapy until the pulmonary vascular resistance drops and normalizes with time. (See 'Management of symptomatic newborn' above.)

In case of extreme cyanosis, prostaglandin E1 (also known as alprostadil) infusion is indicated to keep the patent ductus arteriosus open and increase pulmonary blood flow until the pulmonary vascular resistance drops. However, prostaglandin E1 infusion should be avoided in patients with concurrent significant pulmonic regurgitation. (See "Diagnosis and initial management of cyanotic heart disease in the newborn", section on 'Prostaglandin E1'.)

Critically ill newborns may require inotropic support for stabilization until surgical intervention is performed or there is clinical improvement. Milrinone is the preferred inotrope in this setting. Catecholamines should be avoided, as these may predispose to tachyarrhythmia.

Symptomatic children with Ebstein anomaly should be evaluated for early surgical repair. Infants and children with heart failure may be stabilized temporarily with inotropic agent (preferably milrinone), digoxin, and a loop diuretic. (See 'Management of symptomatic child' above and "Heart failure in children: Management".)

Medical management of symptomatic adult Ebstein patients includes diuretic therapy for volume overload related to right heart failure, control of heart rhythm abnormalities, and standard medical therapy for left ventricular systolic dysfunction. However, surgical intervention is generally the preferred treatment when feasible for symptomatic adults. (See 'Management of symptomatic adult' above.)

Treatment of atrial arrhythmias includes radiofrequency catheter ablation or surgical ablation of atrioventricular accessory pathway(s) and drug therapy, as discussed separately. (See "Treatment of arrhythmias associated with the Wolff-Parkinson-White syndrome" and "Atrial fibrillation: Surgical ablation".)

Screening for cardiac cirrhosis is appropriate in all adults with right atrial hypertension.

Cardiac surgery in patients with Ebstein anomaly should be performed at a center with established experience by surgeons with training and expertise in congenital heart disease, preferably at centers with specific high-volume expertise in Ebstein surgery. Indications for surgical repair of Ebstein anomaly are based chiefly on the age of the patient, presence of symptoms, and the severity of clinical findings. Right ventricular systolic function and experience of the surgical center have to be taken into account in individual decision-making. Our approach is generally as follows (see 'Surgical or catheter intervention' above):

Neonates – Surgical repair of Ebstein anomaly is generally avoided in the newborn period, as the risk of surgery is high. However, for neonates with Ebstein anomaly and any of the following, we suggest surgical repair (Grade 2C) (see 'For neonates' above):

-Severe cyanosis.

-Great Ormond Street Score (GOSE) score (defined as the ratio of area of the right atrium and atrialized right ventricle to the combined area of the functional right ventricle, left atrium, and left ventricle) 3 or 4 with mild cyanosis.

-Cardiothoracic ratio >80 percent.

-Severe tricuspid regurgitation with right heart failure.

Children and adults – For children and adults with Ebstein anomaly and any of the following, we suggest surgical or percutaneous intervention (Grade 2C) (see 'For children' above and 'For adults' above):

-Symptoms or deteriorating exercise capacity

-Cyanosis (oxygen saturation <90 percent)

-Paradoxical embolism

-Progressive right ventricular dilation or reduction of right ventricular systolic function

For children and adults with Ebstein anomaly with severe tricuspid valve regurgitation and favorable tricuspid valve anatomy for repair and low operative risk, we favor referral for surgical repair in an attempt to avoid adverse right heart remodeling based upon our institutional experience. Decision-making for such patients should be individualized depending upon available surgical experience.

Surgical options for Ebstein anomaly depend upon patient’s age and clinical characteristics including tricuspid anatomy and right ventricular size and function.

Surgical options in the neonate include a biventricular repair or a single ventricle repair. (See 'For infants' above.)

For infants beyond three months of age, children, and adults with severe right heart failure with significant right ventricular enlargement and dysfunction, a 1.5-ventricle repair is preferred. (See 'Procedure' above.)

For most children and adults with Ebstein anomaly, biventricular repair is the procedure of choice. (See 'Surgical intervention' above.)

Surgical tricuspid valve re-repair or replacement are options for patients with repaired Ebstein anomaly with recurrent severe tricuspid regurgitation with symptoms, progressive right ventricular dilation and/or systolic dysfunction, arrhythmias, or bioprosthetic valve dysfunction. For patients with bioprosthetic valve dysfunction who meet criteria for reintervention, valve-in-valve tricuspid valve replacement may be considered. Local experience of the surgical center needs to be taken into account in individual decision-making. (See 'Indications for repeat surgery or intervention after tricuspid valve repair/replacement' above.)

Acyanotic, asymptomatic women with Ebstein anomaly usually tolerate pregnancy, provided that sinus rhythm is maintained. (See 'Management of pregnancy' above.)

The prognosis of Ebstein anomaly varies with the severity of the lesion. Severe malformations associated with cyanosis in neonates and heart failure in infants result in a guarded prognosis. Adolescents and adults commonly present with atrial arrhythmias, often associated with one or more accessory pathways. Mild disease may be detected in children or adults; these patients may remain asymptomatic for decades. (See 'Prognosis' above.)

ACKNOWLEDGMENTS — The UpToDate editorial staff acknowledges Brojendra N Agarwala, MD, and Ziyad M Hijazi, MD, MPH, FAAP, FACC, MSCAI, FAHA, who contributed to earlier versions of this topic review.

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References

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