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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 ~ Tayloc&F"nd,Gcoup 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] 257 258 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. 259 260 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. 261 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. 262 r::-- - -- .,, 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. REFERENCES 1. Allwork SP, Bentall HH, Becker AE, Cameron H, Gerlis LM, WIlkinson ]L, Anderson RH . Congenitally corrected transposition of the great arteries: morphologic study of32 cases. Am] Cardiol1976;38:910-923. 2. Celermajer DS, Cullen S, Deanfield ]E, Sullivan ID. Congenitally corrected transposition and Ebstein's anomaly of the systemic atrioventricular valve: association with aortic arch obstruction.] Am Coli Cardiol1991;18:1056-1058. 3. Anderson R, Lillehei C, Lester R. Corrected transpostion of the great vessels of the heart. Pediatrics 1956;20:626-646. 4. Friedberg DZ, Nadas AS. Clinical profile of patients with congenital corrected transposition of the great arteries. A study of 60 cases. N Engl] Med 1970;282: 1053-1059. 5. 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Threevessel view of the fetal upper mediastinum: an easy means of detecting abnormalities of the ventricular outflow tracts and great arteries during obstetric screening. Ultrasound Obstet Gynecol1997;9:173-182. 10. Yoo S], Lee YH, Cho KS. Abnormal three-vessel view on sonography: a clue to the diagnosis of congenital heart disease in the fetus. Am] Roentgenol 1999;172: 825-830.