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Fetal and Pediatric Pathology, 23: 257-263,
2004 Copyright @Taylor & Francis Inc.
ISSN: 1522-7952 print 11523-4525 online DOl:
10.1080/15227950490923651
Q Taylor & Francis
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CONGENITALLY CORRECTED TRANSPOSITION OF THE GREAT
ARTERIES WITH EBSTEIN MALFORMATION AND HYPOPLASIA OF
THE AORTIC ARCH IN A FETUS
Rima Bader, MD 0 Department qf Paediatrics (Division qfCardiology) Hospitalfor Sick
Children, University qfToronto, Toronto, Ontario, Canada
Don Perrin, PhD 0 Department qf Pathology, Hospitalfor Sick Children, University qf Toronto,
Toronto, Ontario, Canada
Shi-Joon Y 00, MD 0 Diagnostic, Imaging, Hospitalfor Sick Children, University qfToronto,
Toronto, Ontario, Canada
0 Congenitally corrected transposition of the great arteries is not uncommonly associated with Ebstein's malformation of
its lift-sided tricuspid valve. The recognition of this rare association in the fetus is important because its postnatal
prognosis is guarded. The present case report illustrates fetal echocardiographic clues to the diagnosis that include
mesocardia and apically displaced attachment of the lift-sided atrioventricular valve to the ventricular septum atfourchamber view.
Keywords aortic arch hypoplasia, corrected transposition, Ebstein's malformation, fetus
INTRODUCTION
Congenitally corrected transposition of the great arteries is characterized by
discordant atrioventricular and ventriculoarterial connections. It has been well known that
congenitally corrected transposition is not uncommonly associated with Ebstein
malformation of the tricuspid valve. As the right ventricle supports the aorta in
congenitally corrected transposition, Ebstein malformation of its tricuspid valve is often
associated with an obstructive lesion of the aortic arch [1, 2]. As this uncommon
association presents with poor postnatal prognosis, its fetal recognition is important for
patient counseling and treatment planning after birth. We describe here in a case of
congenitally corrected transposition of the great arteries, Ebstein malformation of the
tricuspid valve, and hypoplasia of the aortic arch diagnosed at 30 weeks gestation with
special emphasis on fetal echocardiographic clues to the diagnosis.
Address correspondence to Shi-Joon Yoo, M.D., Department of Diagnostic Imaging, The Hospital for Sick Children, 555
University Avenue, Toronto, Ontario, Canada M5G lX8. E-mail: [email protected]
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R. Bader et al.
CASE REPORT
The 30-year-old, gravida 2 para 0 was referred for fetal cardiac evaluation at 30
weeks of gestation because of an abnormal four-chamber view at the screening fetal
ultrasound. The course of the current pregnancy had been uncomplicated. Her medical
history was otherwise unremarkable. A maternal-side sister had a child with a cardiac
abnormality.
Fetal echocardiography revealed normally arranged abdominal organs and
mesocardia with the cardiac apex pointing slightly to the right (Figure lA-IE). The
systemic veins had normal connections to the right atrium, and the pulmonary veins to the
left atrium. The left atrium was slightly larger than the right atrium. There were two
ventricles of an equal size. The left-sided ventricle was considered as the morphologically
right ventricle because of presence of a moderator band in its apical part, and therefore the
right-sided ventricle as the morphologically left ventricle. There were parallel but
discordant atrioventricular connections. The tricuspid valve had an apically displaced
attachment to the ventricular septum. Color Doppler interrogation revealed moderate
tricuspid regurgitation. There was a large perimembranous ventricular septal defect.
The aorta arose from the right ventricle and the m<yor part of the pulmonary artery
from the left ventricle with the pulmonary valve overriding the ventricular septum. The
ascending aorta was located left anterior to the main pulmonary artery. The diameter of
the ascending aorta was approximately two thirds of that of the main pulmonary artery.
The aortic arch was left-sided and showed normal branching pattern of the head and neck
vessels. The aortic arch showed tubular hypoplasia with juxtaductal coarctation. The
arterial duct was widely patent. The ventricles showed good function. There was no
evidence of abnormal cardiac rhythm.
The patient and her husband were fully informed of the abnormalities and postnatal
prognosis. They also were informed of the postnatal management plan that included early
surgical repair of the aortic arch and pulmonary artery banding followed by atrial and
arterial switch procedures in conjunction with closure of the ventricular septal defect and
tricuspid valve repair.
The baby girl was delivered at term with a birth weight of 3.7 kg. The Apgar scores
were 8 and 9 at 1 and 5 min, respectively. Shortly after birth, the baby developed
respiratory distress requiring ventilatory support and infusion of prostaglandin E1.
Postnatal echocardiography confirmed the prenatal diagnosis. At 2 weeks of age, the baby
had a sudden cardiovascular collapse that resulted in multiple organ failure, grade III
intracerebral hemorrhage, and cholestatic liver disease. This, in addition to intercurrent
episodes of sepsis, prevented the baby from having pulmonary artery banding and repair
of the aortic arch obstruction. The baby's condition continued to deteriorate. After
discussion with the parents about the guarded prognosis, the medical therapy was
discontinued. The baby died at 8 weeks of age and postmortem pathologic investigation
confirmed the echocardiographic diagnosis (Figure 2).
~
Corrected Transposition qfGreat Arteries
(A)
(B)
FIGURE lA AND IB Four chamber views at 30 weeks gestation. The heart is in the midline. (A) The left-sided
ventricle (LV) is the morphologically right ventricle (RV) because of the presence of the moderator band
(asterisk). There were parallel but discordant atrioventricular connections. (B) The tricuspid valve shows
Ebstein malformation with apically displaced attachment to the ventricular septum. Color Doppler image shows
tricuspid regurgitation (blue signal). RA
= Right atrium, LA = left atrium.
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R. Bader et at.
(C)
(D)
FIGURE IC AND ID Left and right ventricular outflow tract views show discordant ventriculoarterial connections and a large
perimembranous ventricular septal defect (d). The pulmonary valve overrides the ventricular septum. A = aorta, RV =right
ventricle, LV = left ventricle.
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Corrected Transposition of Great Arteries
(E)
FIGURE IE Aortic arch view shows tubular hypoplasia of the transverse arch and a posterior shelf. A
duct.
= aorta,
D = arterial
DISCUSSION
Congenitally corrected transposition of the great arteries is uncommonly associated
with aortic arch abnormalities [1, 3-6]. Allwork et al. [1] found 4 cases with hypoplasia of
the aortic isthmus among their 32 autopsy cases of congenitally corrected transposition.
All these 4 cases died in infancy. Celermajer et al. [2] showed that an obstructive lesion of
the aortic arch is particularly common when there is coexisting Ebstein is malformation of
the systemic atrioventricular valve. They experienced 10 patients with congenitally
corrected transposition and Ebstein's malformation over a period of 20 years. Among
these, 5 neonates had severe systemic atrioventricular valve regurgitation. All these 5
neonates were associated with either severe coarctation of the aorta (n = 4) or aortic
atresia (n = 1). In contrast, aortic arch obstruction was seen in none of the remaining 5
patients with mild systemic atrioventricular valve regurgitation.
The association of an obstructive lesion of the aortic arch and Ebstein malformation
of the tricuspid valve is eXplainable. As the right ventricle supports the aorta when the
great arteries are transposed, Ebstein malformation of the tricuspid valve significantly
may affect the development of the aortic arch by reducing the blood flow through it. This
situation is similar to the common association of Ebstein malformation of the right -sided
tricuspid valve and underdevelopment of the pulmonary outflow tract in hearts with
normal segmental connections.
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R. Bader et al.
-.
FIGURE 2 Opened left-sided chambers show that the left atrium (LA) connects to the morphologically right ventricle (RV).
Note apically displaced attachment of the septal (white asterisks) and posterior (black asterisks) leaflets.
Fetal diagnosis of corrected transposition has been described [7, 8]. However, the
fetal echocardiographic features of this particular combination have not been detailed. In
the present case, the most important clues to the diagnosis were isolated mesocadia and
apically displaced attachment of the atrioventricular valve of the left-sided ventricle.
When there is dextrocardia or mesocardia in situs solitus, congenitally corrected
transposition of the great arteries is the most commonly encountered cardiac defect. On
the other hand, the Ebstein malformation involves almost exclusively the tricuspid valve
with extremely rare exceptions. The presence of Ebstein malformation of the left-sided
ventricle in the present case, therefore, led us to identify that ventricle as the
morphologically right ventricle, although we also used another morphological criterion
for ventricular identification: the presence of a moderator band. The abnormal great
arterial relationship with the aorta at the left anterior aspect of the pulmonary artery at the
three-vessel view also was supportive of the diagnosis suspected [9, 10].
Corrected Transposition qf Great Arteries
263
The combination of congenitally corrected transposition, Ebstein malformation of the
tricuspid valve, with obstructive lesion of the aortic arch is associated with a poor
prognosis. In the Celermajer et al. series [2],4 of 5 with this combination died in the
neonatal period and 1 who had coarctation repair died 7 months postoperatively. Our
patient also died at 8 weeks of age before going for palliative cardiac surgery. Although
our prenatal diagnosis of this condition allowed proper counseling of the family and
planning of treatment after birth, it did not change the ultimate prognosis of this
unfavorable combination of cardiovascular abnormalities.
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