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DOI 10.1007/s11936-012-0209-2
Opinion Statement
Ebstein anomaly (EA) is a rare congenital heart defect that may not be detected until
late in adolescence or adulthood. Since the original description in a 19-year-old laborer
with severe tricuspid valve (TV) regurgitation in 1866, our understanding of this rare
condition has increased to the recognition that it is an abnormality not only of the TV,
but also of the right ventricle (RV). EA is the result of failure of delamination of the TV
leaflets from the interventricular septum, resulting in adherence of the leaflets to the
underlying myocardium. This results in a wide variety of abnormalities, including apical
and posterior displacement of the dilated TV annulus; dilation of the “atrialized” por-
tion of the RV; and fenestrations, redundancy, and tethering of the anterior leaflet of
the TV. The malformed TV is usually regurgitant, but may rarely be stenotic. The clinical
manifestations of EA in the adult depend on several factors, including the extent of TV
leaflet distortion, degree of tricuspid regurgitation (TR), right atrial pressure, and pres-
ence of a right-to-left atrial level shunt. Over the past several decades, advances in di-
agnostic imaging and surgical techniques have contributed to our current management
of this challenging congenital heart defect.
Introduction
Ebstein anomaly (EA) is a rare congenital heart defect cases of congenital heart disease. The etiology of EA is
that encompasses a wide spectrum of anatomical and not known; however, in rare cases, genetic factors such
functional abnormalities of the tricuspid valve (TV) as mutations in the transcription factor NKX2.5,
and right ventricle (RV). The incidence of EA is ~1 per 10p13-p14 deletion and 1p34.3-p36.11 deletion have
200,000 live births, accounting for less than 1 % of all been described. The morphologic defect of EA involves
Valvular Heart Disease (AS Desai and PT O'Gara, Section Editors)
a failure of delamination of the TV leaflets, resulting in ten symptomatic arrhythmia or right-sided heart failure
adherence of the leaflets to the underlying myocardium. symptoms. The physical examination findings may in-
This results in a wide variety of abnormalities, including clude a RV lift, loud first heart sound with systolic clicks
apical and posterior displacement of the dilated TV an- and a holosystolic murmur of TR. The jugular venous
nulus, dilation of the “atrialized” portion of the RV, pressure may often be normal, despite severe TR, due
and fenestrations, redundancy, and tethering of the ante- to the large, compliant right atrium. If an associated atrial
rior leaflet. The malformed TV is usually regurgitant, but level septal defect [Atrial septal defect (ASD) or patent fo-
may rarely be stenotic. Table 1 lists the clinical and mor- ramen ovale (PFO)] is present, the patient may be cya-
phological features of the unoperated EA patient. The notic due to right-to-left shunting. The cardiothoracic
clinical manifestations of EA in the adult depend on sev- ratio on chest radiograph is enlarged, transthoracic echo-
eral factors, including the extent of TV leaflet distortion, cardiography (TTE) confirms the diagnosis, and addi-
degree of tricuspid regurgitation (TR), right atrial pres- tional imaging modalities are used when appropriate.
sure, and presence of a right-to-left atrial level shunt. Ad- Adults with EA may not recognize their exercise limita-
ditional cardiac associations, such as pulmonary valve tions, and objective exercise testing is useful, particularly
stenosis or left ventricular (LV) non-compaction, may for documenting any cyanosis with exercise, due to
further contribute to a patient’s clinical presentation. a right-to-left atrial shunt. Atrial arrhythmias are
Asymptomatic patients with EA without right-to-left common, with accessory pathways present in
shunting or significant cardiomegaly may be managed ~50 % of these patients. Indications for surgical
medically and may not require intervention. When the interventions include symptoms of right-heart fail-
diagnosis of EA is made in adults, the presentation is of- ure or decreased exercise tolerance, cyanosis, para-
doxical embolism, progressive cardiomegaly, RV di- any interatrial communications, and antiarrhythmia
lation or dysfunction [1]. Surgical options include procedures. This article highlights the diagnosis and
tricuspid valve repair or replacement, closure of management of adults with EA.
Diagnostic Testing
Echocardiography
& Transthoracic echocardiography (TTE) is the cornerstone of imaging the
patient with Ebstein anomaly of the tricuspid valve. The goals of the TTE
are to a) distinguish EA from other etiologies of TV disease, b) deter-
mine TV anatomy c) assess the degree of TV dysfunction, d) evaluate
right ventricular (RV) function, and e) identify associated anomalies
such as an atrial septal defect, right ventricular outflow tract obstruction,
or myocardial non-compaction. TTE is essential in assessing the valve
morphology and eligibility for surgical repair [2]. While other types of
TV disease (rheumatic, endocarditic, traumatic, carcinoid, dysplastic
valve) can mimic EA, EA is unique in that the insertion site of the septal
leaflet is apically displaced≥0.8 cm/m2 relative to the anterior mitral
leaflet insertion site (Fig. 1). In more severe cases, the posterior leaflet is
apically displaced as well [3, 4]. These findings are usually best visual-
ized from the apical window. In EA, the septal leaflet has excessive
attachments to the interventricular septum as a result of incomplete
delamination of the septal and posterior leaflets from the myocardi-
Exercise Testing
& While the optimal timing of elective surgery in patients with EA remains
unknown, symptoms are a common indication for surgery [1]. How-
ever, patients with congenital heart disease are often unaware of func-
tional limitations, and deterioration in exercise capacity has important
prognostic implications [29]. Even relatively asymptomatic patients
with EA have significant decreases in exercise performance and their
peak oxygen consumption is significantly reduced [29, 30]. Right-to-left
shunting can be exacerbated during exercise, and exercise-induced cy-
anosis can be a powerful impact on exercise capacity [31]. This can
manifest as inefficient ventilation and an elevated VE/VCO2 [30]. Pro-
gressive decline in exercise performance should be considered a relative
indication for surgery, even in the absence of overt symptoms [31].
Electrocardiogram
& The surface electrocardiogram (ECG) can give important clues about the
patient’s anatomy, presence of an accessory pathway and predisposition
for atrioventricular re-entrant tachycardia [32]. The surface ECG of a
patient with EA is rarely normal (Fig. 2). A wide P wave with a pro-
longed PR interval indicates slowed conduction through a dilated atri-
um [33]. Right bundle branch block is common [34]. However, patients
Valvular Heart Disease (AS Desai and PT O'Gara, Section Editors)
Figure 2. Twelve-lead electrocardiogram of a patient with Ebstein anomaly of the tricuspid valve. It demonstrates normal sinus
rhythm with a premature ventricular contraction, right axis deviation, complete right bundle-branch block with bizarre terminal
portion of the QRS (*) consistent with severe RV conduction delay.
Cardiac Catheterization
& With advances in CMR and TTE, routine hemodynamic catheterization
is no longer warranted in most patients with EA. In the rare patient with
suspected pulmonary arterial hypertension, hemodynamic catheteri-
zation can be used for preoperative risk stratification. The presence and
magnitude of intracardiac shunting can also be determined by cathe-
terization. Preoperative coronary angiography is warranted in men
35 years and older, premenopausal women over 35 with coronary heart
disease risk factors, and post-menopausal women [1].
Treatment Options
Medical Management
& Patients with mild forms of EA should undergo regular evaluation by a
cardiologist with expertise in adult congenital heart disease (ACHD). The
evaluation must include thorough assessment of the patient’s heart
rhythm, as atrial arrhythmias are particularly common. Exercise testing
provides assessment of functional capacity and any arterial desaturation
with exertion. If signs or symptoms of right-sided heart failure are present,
standard heart failure medications are employed; however, there is little
evidence for the efficacy of these agents in patients with EA. Medical
management of arrhythmias should be individualized. Recommenda-
tions for physical activity are summarized in the Task Force 1 on Con-
genital Heart Disease [44]. Adults with mild EA, nearly normal heart size,
and no arrhythmias are not restricted from sports participation. However,
those with severe, unrepaired EA are precluded from sports.
& The late survival of unoperated adults with EA is less than expected. In a
natural history study of 72 unoperated EA patients, survival was 89 %,
Valvular Heart Disease (AS Desai and PT O'Gara, Section Editors)
Surgical Interventions
& Table 2 lists the ACHD Class I guidelines for tricuspid valve repair or re-
placement in EA patients, as well as indications for arrhythmia surgery [1].
& The operative management of patients with EA includes a) tricuspid
valve repair or replacement, b) right reduction atrioplasty, c) closure of
any atrial septal communications, d) antiarrhythmia procedures (Maze
procedure, surgical division of accessory conduction pathways, or cry-
oablation of atrioventricular node reentrant tachycardia), e) correction of
any associated cardiac anomalies (pulmonary stenosis) and f) consid-
eration of plication of the atrialized portion of the RV. Advantages to
plication of the RV include a reduction in the size of the nonfunctional
portion of the RV, theoretically improving the transit of blood through
the RV; b) reduction of LV compression and improving LV filling; c) re-
duction of the tension on the TV suture lines; and d) provision of more
space for the lungs (particularly in smaller patients). However, RV pli-
cation has the potential risk of injury to the right coronary artery that may
lead to arrhythmias and ventricular dysfunction. There is also concern
that the area of plication creates a folded area of tissue that may be par-
Diagnosis and Management of Ebstein Anomaly Krieger and Valente
cify at a faster rate in the TV position. Porcine valves are also preferred
over mechanical valves due to good durability in the TV position and
lack of need for warfarin anticoagulation [59]. In adults who require
warfarin anticoagulation for another reason (i.e., atrial fibrillation), a
mechanical valve may be considered, but should be avoided in cases of
significant RV dysfunction, due to a greater propensity of TV throm-
bosis. The surgical technique involved in TV replacement involves de-
viating the suture line toward the atrial side of the atrioventricular node
and membranous septum inferiorly to avoid injury to the conduction
system, as well as cephalad to the atrioventricular groove anteriorly to
avoid right coronary artery injury.
Acknowledgments
The authors thank Amy Harmon, BA; Rebecca Schwaegler, BS, RDCS; Dr. Frank Cecchin and Dr. Pedro Del
Nido for their thoughtful contributions to this manuscript.
Disclosure
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