Open Access Maced J Med Sci. 2021 Oct 04; 9(C):189-192. 189
Scientifc Foundation SPIROSKI, Skopje, Republic of Macedonia
Open Access Macedonian Journal of Medical Sciences. 2021 Oct 04; 9(C):189-192.
https://doi.org/10.3889/oamjms.2021.6012
eISSN: 1857-9655
Category: C - Case Reports
Section: Case Report in Pediatrics
Prenatal Diagnosis of Ebstein Anomaly in a Centre with Limited
Resources: A Potential Pitfall
Ramush Bejiqi
1,2,3
, Ragip Retkoceri
3
, Hana Bejiqi
4
, Aferdita Mustafa
3
, Arlinda Maloku
4
, Rinor Bejiqi
3
*
1
Texas Health Science Center, San Antonio, Texas, USA;
2
Medical School, University of Gjakova “Fehmi Agani”, Gjakova,
Kosovo;
3
University Clinical Center of Kosovo, Prishtina, Kosovo;
4
Main Center of Family Medicine, Prishtina, Kosovo
Abstract
BACKGROUND: Ebstein anomaly is a rare congenital cardiac malformation characterized by varying degrees of
downward displacement of the tricuspid valve leafets into the cavity of the right ventricle. The pathophysiology
varies with the degree of valvular malfunction, the size, and contractility of the right ventricle, and the presence
of obstruction within the right ventricular outfow tract. An early diagnosis makes worse the often prognosis. Fetal
echocardiography is a useful tool for the diagnosis of congenital heart disease including the Ebstein anomaly which
shows a wide spectrum of ultrasonographic manifestations and, sometimes it can be difcult to make a true prenatal
diagnosis.
CASE REPORT: Here, we describe a unique case of an Ebstein anomaly in 26 weeks of gestation fetus through
prenatal echocardiographic evaluation. Fetus was suspected as a severe form of the Ebstein anomaly, with a severe
form of right atrium enlargement, huge tricuspid insufciency, and hypoplastic pulmonary artery. The atrial septum,
dimensions of cardiac structures, left and right cardiac output, and Doppler interrogation of cardiac fows were
examined.
CONCLUSION: This case study presents a well-documented case of Ebstein’s anomaly type D that was diagnosed
prenatally using fetal echocardiography.
Edited by: Igor Spiroski
Citation: Bejiqi R, Retkoceri R, Bejiqi H, Mustafa A,
Maloku A, Bejiqi R. Prenatal Diagnosis of Ebstein Anomaly
in a Centre with Limited Resources: A Potential Pitfall.
Open Access Maced J Med Sci. 2021 Oct 04; 9(C):189-192.
https://doi.org/10.3889/oamjms.2021.6012
Keywords: Fetal echocardiography; Ebstein anomaly;
Fetal heart; Tricuspid insufciency; Fetal hidrops
*Correspondence: Rinor Bejiqi, University Clinical Center
of Kosovo, Prishtina, Kosovo.
E-mail: rinorbejiqi25@gmail.com
Received: 22-Mar-2021
Revised: 18-Apr-2021
Accepted: 24-Sep-2021
Copyright: © 2021 Ramush Bejiqi, Ragip Retkoceri,
Hana Bejiqi, Aferdita Mustafa, Arlinda Maloku, Rinor Bejiqi
Funding: This research did not receive any fnancial
support
Competing Interests: The authors have declared that no
competing interests exist
Open Access: This is an open-access article distributed
under the terms of the Creative Commons Attribution-
NonCommercial 4.0 International License (CC BY-NC 4.0)
Introduction
Ebstein anomaly is an uncommon congenital
abnormality with a prevalence of 0.2–0.5% of all
cardiac malformations. It can appear at any age,
from fetal life to adulthood, with a highly variable
clinical course. In the fetus and neonate, a targeted
echocardiogram has been proven to be reliable in
diferentiating the variants of Ebstein anomaly [1].
However, because targeted fetal echocardiography
cannot be used routinely for all obstetric patients,
the ability to recognize Ebstein anomaly from a
routine prenatal obstetric sonographic examination
is important. The 4-chamber view of the heart, a
component of the American Institute of Ultrasound in
Medicine guidelines for fetal structural evaluations, is
most helpful for the detection of many congenital heart
defects, including Ebstein anomaly. The 4-chamber
view, however, does have limitations in the diagnosis
of certain cardiac malformations [2]. We here present
a rare case of a fetus with severe form of Ebstein
anomaly, diagnosed by fetal echocardiography after
an initial routine obstetric sonogram, and discuss the
diagnostic considerations in such patients.
Case Report
A 26-year-old gravida 1, para 0 woman was
referred to our tertiary center at 20.4 weeks of gestation
with a suspected cardiac anomaly. Her previous
medical history was unremarkable, and she had no
family history of congenital malformation. She had no
known history of teratogen exposure at any time during
pregnancy. The fetus had appropriate biometrical
dimensions and appeared morphologically normal.
Quad tests and other prenatal laboratory fndings
were within normal ranges. A fetal echocardiography
was performed and the four-chamber view of the
heart revealed cardiomegaly with a right heart side
dilatation and without defnite contractility. There were
evidence of discernible tricuspid leafets (Figure 1a-c),
indicating the downward displacement of a tricuspid
valve structure. Color Doppler imaging showed forward
and backward fows from the right atrium to the right
ventricle with evidence of huge tricuspid regurgitation
(Figures 1d and e and 2). Because the tricuspid valve
structure was completely incompetent and also because
there were communicating fows between the right
atrium and right ventricle, the fetus was thought to have