Atypical Presentation of Ebstein's Anomaly in an adult patient -Magnetic resonance imaging assessment

Abstract

Ebstein's Anomaly (EA) is a complex and rare congenital cardiac disorder, representing 1% of all congenital heart diseases; characterized by right ventricular myocardial abnormalities with a malformation of the tricuspid valve causing dilation and "atrialization". EA can have a wide variety of clinical presentations depending on the degree of the anatomical abnormality. We present a 22-year-old male patient with EA diagnosed in 2008 at the age of 10, had no symptomatology until seven years later when abruptly he presented with dyspnea, syncope, chest pain, peripheral cyanosis and an abnormal heart rhythm. An electrocardiogram (ECG) with Wolff-Parkinson-White syndrome, and orthodromic tachycardia documented by a right posterolateral accessory pathway. TTE showed right ventricular atrialization of 67% and normal left ventricular systolic function (LVEF: 59%), 12mm atrial septal defect with right to left shunt and severe tricuspid regurgitation with adequate right ventricular function. Surgical correction of the atrial septal defect and tricuspid valvuloplasty was performed. Our patient had a milder presentation with no right ventricular dysfunction despite the severe atrialization, atrial septal defect, and severe tricuspid regurgitation. The particularity of this case is that patients with the previously described characteristics typically present with heart failure symptoms at much earlier stages in their life. This is a rare case, where tricuspid valvuloplasty was performed until adulthood.

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Case Report
Clinical Research and Trials
Clin Res Trials, 2021 doi: 10.15761/CRT.1000346
ISSN: 2059-0377
Volume 7: 1-3
Atypical Presentation of Ebstein’s Anomaly in an adult
patient - Magnetic resonance imaging assessment
Jose Luis Siller-Nava1, Jose Antonio Luna-Alvarez-Amezquita1, Joaquin Berarducci1, Javier Ivan Armenta-Moreno1, Jorge Luis Bermudez-
Gonzalez1, Roberto Cano-Zarate2 and Nilda Espinola-Zavaleta1*
1Department of Nuclear Cardiology, National Institute of Cardiology Ignacio Chávez, Mexico City Mexico
2Department of Magnetic Resonance, National Institute of Cardiology Ignacio Chávez, Mexico City Mexico
Abstract
Ebstein’s Anomaly (EA) is a complex and rare congenital cardiac disorder, representing 1% of all congenital heart diseases; characterized by right ventricular
myocardial abnormalities with a malformation of the tricuspid valve causing dilation and “atrialization”. EA can have a wide variety of clinical presentations depending
on the degree of the anatomical abnormality.
We present a 22-year-old male patient with EA diagnosed in 2008 at the age of 10, had no symptomatology until seven years later when abruptly he presented
with dyspnea, syncope, chest pain, peripheral cyanosis and an abnormal heart rhythm. An electrocardiogram (ECG) with Wol-Parkinson-White syndrome, and
orthodromic tachycardia documented by a right posterolateral accessory pathway. TTE showed right ventricular atrialization of 67% and normal left ventricular
systolic function (LVEF: 59%), 12mm atrial septal defect with right to left shunt and severe tricuspid regurgitation with adequate right ventricular function. Surgical
correction of the atrial septal defect and tricuspid valvuloplasty was performed.
Our patient had a milder presentation with no right ventricular dysfunction despite the severe atrialization, atrial septal defect, and severe tricuspid regurgitation. e
particularity of this case is that patients with the previously described characteristics typically present with heart failure symptoms at much earlier stages in their life.
is is a rare case, where tricuspid valvuloplasty was performed until adulthood.
*Correspondence to: Nilda Espinola-Zavaleta MD, PhD, Department of Nuclear
Cardiology, National Institute of Cardiology, Ignacio Chavez, Mexico City
Mexico, E-mail: nieza2001@hotmail.com
Key words: ebstein’s Anomaly, congenital heart disease, echocardiography
Received: June 16, 2021; Accepted: June 22, 2021; Published: June 25, 2021
Introduction
Ebstein’s Anomaly (EA) is a complex and rare, representing only
1% of all congenital heart diseases [1]. It is characterized primarily
by right ventricular myocardial development abnormalities, with a
malformation of the tricuspid valve and myopathy of the right ventricle
with dilation and “atrialization” [2], although it can also present with
le heart abnormalities and associated atrial or ventricular septal
defects [3].
EA can have a wide variety of clinical presentations depending
on the degree of the anatomical malformation, ranging from severe
symptomatic forms in neonates and young children to asymptomatic
forms usually diagnosed incidentally in older patients. Presentation in
neonatal and infant life oen occurs with severe tricuspid regurgitation
and anatomic right ventricular outow tract obstruction [1]. In adults,
arrhythmias are a common feature, presenting atrial brillation, utter,
or ectopic atrial tachycardia in up to 65% of patients and accessory
pathways such as Wol-Parkinson-White Syndrome (WPWS) in up
to 45% of patients [2].
A diagnosis of EA should be suspected in cyanotic infants, children,
and adults; in individuals with tricuspid regurgitation with or without
heart failure and in those patients presenting with arrhythmias.
Transthoracic echocardiography (TTE) is the recommended imaging
modality for diagnosis, providing a platform for tricuspid valve (TV)
leaet characterization, determination of right heart size and function
and evaluation of associated defects [3]. e diagnosis is conrmed
by the identication of an apical displacement of the septal tricuspid
valve leaet of ≥ 8mm/m2 compared with the site of attachment of the
anterior mitral valve leaet, dierentiating it from other congenital
regurgitant lesions [3,4].
Medical management and observation are oen recommended
for asymptomatic patients, and it can be successful for long periods of
time with relatively high overall survival rates [2]. However, in patients
who present increasing cardiomegaly or cyanosis, exercise intolerance
and fatigue, paradoxical embolisms, or new onset atrial and ventricular
arrhythmias, surgical intervention should be indicated for correction
of the anatomical abnormalities presented by the patients [4].
Case Report
We present the case of a 22-year-old male patient with Ebstein’s
anomaly, who was diagnosed in 2008 at the age of 10. Perinatal history
showed that he was the product of a third pregnancy of normal
evolution with vaginal delivery and no neonatal complications. Family
history showed no relevant information. e patient was diagnosed
with a heart murmur at the age of three, which was not clinically
signicant until seven years later when he presented with dyspnea and
acrocyanosis in a routine check-up.

Siller-Nava JL (2021) Atypical Presentation of Ebstein’s Anomaly in an adult patient - Magnetic resonance imaging assessment
Volume 7: 2-3
Clin Res Trials, 2021 doi: 10.15761/CRT.1000346
In a further diagnostic approach, a TTE showed an Ebstein’s
anomaly with a right ventricular atrialization of 67% and le
ventricular ejection fraction (LVEF) of 59%, an atrial septal defect of
12mm with right to le shunt and severe tricuspid regurgitation with
mild right ventricular dysfunction (RVEF: 39%). An electrocardiogram
(ECG) with Wol-Parkinson-White syndrome, and an orthodromic
tachycardia documented by a right posterolateral accessory pathway
that was managed medically with propaphenone 75mg twice a day.
Seven months aer diagnosis he presented with syncope and chest
pain, peripheral cyanosis, an abnormal heart rhythm, acropachy and a
systolic murmur on tricuspid focus. A Magnetic Resonance Imaging
(MRI) was made, which corroborated the echocardiographic data.
Ablation of right lateral and posterolateral accessory pathways was
successful, with a remaining incomplete right bundle branch block
(RBBB), and at four years of follow-up he remains asymptomatic
without antiarrhythmic drugs.
Six months aer discharge, the patient developed fatigue,
orthopnea, lipothymia on two occasions and chest pain associated with
moderate physical activity. Aer discussion with the surgical team, he
was programmed for surgical correction. Pre-surgical echocardiogram
reported right ventricular failure (RVEF: 25%), type I diastolic
dysfunction, severe tricuspid regurgitation with a dilated pulmonary
artery trunk and preserved le ventricular systolic function. Pre-surgical
MRI (Figure 1) conrmed an EA with 62% atrialization, Carpentier C
and a Celermajer index of 0.53 and showed brosis in the atrialized
portion of the right ventricle (Figure 1). e surgical procedure carried
out was a closure of the atrial septal defect and tricuspid valvuloplasty
with plication of the right ventricular atrialized portion and reduction
of the anatomic annulus. In the 7th day of post-surgical follow-up,
the patient remained asymptomatic, with alternating node and sinus
rhythms on the latest electrocardiographic evaluation. e patient is in
under close observation in the out-patient clinic.
Discussion
Ebstein's anomaly (EA) is a rare congenital heart disease where
patients rarely survive beyond adolescence without surgery or other
medical procedures when patients present with symptoms at diagnosis.
e mean age for diagnosis is 23.9 years with a standard deviation of
10.4. According to a cohort of 72 adult patients with EA the mean
percentage of atrialization was 53% [5,6].
Our patient had a milder clinical presentation than would be
expected for a severe atrialization of the right ventricle (62%). He
initially had no right ventricular dysfunction despite the percentage
of atrialization, the atrial septal defect, and the severe tricuspid
regurgitation. Patients with the previously described characteristics
typically present with a NYHA functional class III/IV, even aer
surgical repairs, unlike our patient that had a NYHA functional class
II [6].
Evaluation of EA in adults includes chest radiograph,
electrocardiography, echocardiography, and magnetic resonance
imaging. In chest radiographs, an abnormal silhouette is oen found
due to right heart enlargement and cardiomegaly with a “globular”
appearance. Electrocardiogram shows right atrial enlargement, right
bundle branch block, PR prolongation, low-voltage QRS in right-sided
leads, and supraventricular tachycardia or atrial arrhythmias. WPWS
is frequent in EA, and up to 30% of patients have multiple accessory
pathways, as in this patient. Atrial arrhythmias are more frequent in
adult patients than in neonates, these include atrial brillation, atrial
utter, and atrial tachycardia. Transthoracic echocardiography is the
rst choice for the evaluation of EA, it can conrm the diagnosis,
estimate the severity, and recognize associated anomalies. MRI
constitutes the “gold standard” for the assessment of right ventricular
ejection fraction and the degree of brosis [7].
Commonly, the Celermajer index is used for echocardiographic
evaluation in neonates and adults. It can be estimated with the
information obtained from echocardiography and MRI [8]. Our
patient with a Celermajer index of 0.53 lies within a milder form of
the disease, despite having severe atrialization of the right ventricle,
but without severe clinical manifestations for an unusually long period
aer the diagnosis [8].
Surgical correction of the anatomical abnormalities is usually
recommended for patients between ages 2 to 5 years if the chance
of good repair is likely. However, there have been studies that show
relatively favorable prognosis in 4- year follow-up for older patients
who had undergone surgical intervention, such as ours. Most of them
had mild residual tricuspid regurgitation, but only 5% required re-
repair intervention, with an overall early mortality of 2%. Additionally,
Figure 1. Magnetic Resonance Imaging. (A) Two chamber view, cine echo gradient, attachment of the posterior leaet of the tricuspid valve (yellow arrows), anterior leaet appears
elongated (white arrows). (B) Four chamber view, cine echo gradient, attachment of the septal leaet of the tricuspid valve involving 65% of the right ventricle (red arrow), with redundant
anterior leaet (white arrows) and an ostium secundum atrial septal defect (blue arrow). (C) Four chamber view, late gadolinium enhancement in the atrialized portion of the right ventricle
(white head arrows)
Abbreviations: LV-left ventricle; RA-right atrium; LA-left atrium; aRV-atrialized right ventricle; fRV-functional right ventricle.

Siller-Nava JL (2021) Atypical Presentation of Ebstein’s Anomaly in an adult patient - Magnetic resonance imaging assessment
Volume 7: 3-3
Clin Res Trials, 2021 doi: 10.15761/CRT.1000346
the presence of a sinus rhythm or an accessory pathway, as shown in
this patient, is associated with lower mortality rates [4].
Future eorts in the investigation of current severity scores and
indexes must be made to better classify patients with EA and improve
clinical outcomes and clarify the prognosis for patients.
Conclusion
e particularity of this case is based upon the fact that patients
with severe atrialization of the right ventricle, usually present with
heart failure symptoms at much earlier stages in their life. His
initial diagnosis was made due to the presence of a persistent heart
murmur and WPWS, which states the importance for the clinician
to have high suspicion rates of EA in patients with this arrhythmia.
Surgical interventions are required for improving clinical outcomes
and survival rates at adolescence and even sooner. is is a rare case
where tricuspid valvuloplasty was performed until adulthood with a
favorable outcome. e importance of documenting cases like ours is
to highlight the clinical course of adults with congenital heart diseases
that is not represented in the literature.
Funding
None.
Disclosures
None.
Conict of Interest
None.
Acknowledgments
None.
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Copyright: ©2021 Siller-Nava JL. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted
use, distribution, and reproduction in any medium, provided the original author and source are credited.