Pediatr Cardiol 12:49-51, 1991
Pediatric Cardiology 9 Springer-VerlagNew York lnc, 1991
Aortic Atresia with Aortopuimonary of the Aortic Arch
Window and Interruption
Andrew N. Redington, Michael L. Rigby, Slew Y. Ho, Joel Gunthard, and Robert H. Anderson Department of Paediatrics, Brompton Hospital, London, U K
SUMMARY. The cross-sectional echocardiographic and postmortem appearances of the heart from a patient with the rare association of aortic valve atresia, aortopuimonary window, and interrupted aortic arch are described. Differentiation of this anomaly from truncns arteriosus with interrupted aortic arch is important. KEY WORDS: Aortic atresia--Aortopuimonary window--Interrupted aortic arch
The association of interruption of the aortic arch with aortopulmonary window is a well-recognized, albeit rare, condition [1]. The additional abnormality of aortic valve atresia has been reported only once before, the diagnosis having been made at postmortem [4]. We describe herein the morphological details of a further case, which was diagnosed in life by crosssectional echocardiography.
Case Report A 3.2-kg male presented on the 10th day of life with rapid onset of circulatory failure and shock. He was moribund on arrival at the Brompton Hospital. His heart rate was 180 beats/min, his blood pressure unrecordable, all peripheral pulses were impalpable, and his rectal temperature was 34~ On auscultation there was a loud ejection click, a single second heart sound, and a grade 2/6 ejection systolic murmur. The chest radiograph showed gross cardiomegaly and increased pulmonary vascular markings. The electrocardiogram demonstrated sinum rhythm with a mean frontal QRS axis of + 150 and a normal precordial R/S progression for age. Blood gas analysis revealed a profound metabolic acidosis (pH 6.7, base deficit 32). Following resuscitation with positive pressure ventilation, inotropic support, and the infusin of prostaglandin E2, crosssectional echocardiography was performed. There was a normal arrangement of the abdominal great vessels (situs solitus) with concordant atrioventricular and ventriculoarterial connexions. Subcostal short axis (Fig. IA) and
Address offprint requests to: Dr. Andrew N. Redington, Department of Pediatrics, Brompton Hospital, Fulham Road, London SW3 6HP, UK.
parasternal long-axis views confirmed the presence of a moderate-sized outlet ventricular septal defect (VSD) and aortic valve atresia. Coronary arteries were seen arising from the atretic aortic root in the parasternal short-axis view (Fig. IB). The pulmonary valve was mildly dysplastic. The left ventricle was of normal size. The ascending aorta appeared to be of normal size, and a large aortopulmonary communication was seen in subcostal right anterior oblique and high parasternal short-axis sections (Fig. 1C). Interruption of the aortic arch was confirmed in suprasternal parasaggital sections, with the ascending aorta giving rise to right and left common carotid arteries (Fig. ID). There was a large persistent arterial duct which was continuous with the descending aorta (Fig. IA, B). In view of the complexity of the cardiovascular abnormalities and the very poor condition of the baby, supportive measures were withdrawn following the echocardiographic examination. Permission for a postmortem was obtained.
P o s t m o r t e m Examination The heart was grossly enlarged. There was the usual atrial arrangement with concordant atrioventricular and ventriculoarterial connexions. The aorta and pulmonary trunk were normally related. The pulmonary trunk supplied the pulmonary arteries and, through a large arterial duct, the descending aorta. The two subclavian arteries arose from the descending aorta, the right subclavian passing behind the esophagus (Fig. 2). The ventricular origin of the aorta was blind-ending, with no identifiable valve tissue. The origin of the coronary arteries was normal. The ascending aorta was supplied by a 6-mm diameter aortopulmonary window (Fig. 2). The aortic arch was interrupted and the ascending aorta bifurcated to give rise to right and left common carotid arteries (Fig. 2). The left ventricle was smaller than the right but not hypoplastic. Its outlet was via a 4-mm VSD with exclusively muscular borders. The defect was subpulmonary with the muscular posteroinferior rim formed by the fusion of a large flange o f the ventriculoinfundibular fold and the posterior limb o f the sep-
50
Fig. 1. (A) Subcostal short-axis view showing muscular outlet ventricular septal defect (VSD). A large aortopulmonary communication can be seen between the atretic aorta (AO) and pulmonary trunk (PT). (B) Parasternal short-axis view demonstrating the large aortopulmonary communication. The right coronary artery (RCA) can be seen arising from the AO. (C) High parasternal short-axis view. The relationship between the PT and AO is normal. The aortopulmonary window (APW) is clearly seen. (D) Suprasternal parasaggital view of the AO. Both coronary arteries are seen arising from the aortic root. The ascending aorta is interrupted, giving rise to right and left common carotid arteries (RCC and LCC) only. RV, right ventricle; LV, left ventricle; RPA, right pulmonary artery; RA, right atrium; LA, left atrium RVOT, right ventricular outflow tract; DAO, descending aorta. Fig. 2. Posmortem specimen. The aortopulmonary window (arrows), atretic aortic root, and interrupted aortic arch are all clearly seen. Note the retroesophageal course of the anomalously arising right subclavian artery (RSC). RCA, right coronary artery; RCC, right common carotid; LCC, left common carotid; D, arterial duct; LSC, left subclavian artery; AO, atretic aorta; PT, pulmonary trunk~
tomaginal trabeculation. Had aortic valve tissue been identified, the VSD would have been of doubly committed and of juxtaarterial type.
Discussion This case is the second reported example, to our knowledge, of the combination of aortic valve atre-
Pediatric Cardiology Vol. 12, No. 1, 1991
sia, interruption of the aortic arch, aortopulmonary window, and a restrictive muscular outlet VSD. The coexistence of aortic valve atresia and interruption of the aortic arch is, of course, incompatible with life unless coronary arterial flow is preserved by the presence of an aortopulmonary communication. The previous example of this combination was reported by Rosenquist and colleagues [4], and the detailed morphological findings in our patient are remarkably similar to those of their patient. In particular, the relationship found between the atretic aorta and VSD, and the position and size of the aortopulmonary window. If surgical correction or palliation of this anomaly is contemplated, then early and complete diagnosis is important. However, cardiac catheterization in the sick neonate may be hazardous, and, in the previously reported case, aortography failed to demonstrate the aortic atresia and aortopulmonary window [4]. Taken separately, aortic atresia, aortopulmonary window, and interrupted aortic arch can all be accurately diagnosed by cross-sectional echocardiography [2, 3, 5]. It should be expected, therefore, that more complex associations of these anomalies should be diagnosed noninvasively, as in our case. Indeed, associated lesions should be actively excluded whenever one of these anomalies is identified. Differentiation from common arterial trunk with interruption of the aortic arch is important, and potentially difficult. The echocardiographic diagnosis must rely on the demonstration of
Redington et al,: Aortic Valve Atresia
a rim of aortopulmonary septum separating the atretic aortic root from the pulmonary root. The origin of the coronary arteries from the atretic aortic root may also aid the echocardiographer in confirming the diagnosis. The coexistence of aortic valve atresia, aortopulmonary window, interruption of the aortic arch, and a potentially restrictive muscular outlet VSD appears to be a specific syndrome of anomalies. It can be diagnosed by cross-sectional echocardiography and should be excluded in cases thought to be common arterial trunk with interrupted aortic arch. A c k n o w l e d g m e n t . Drs. Ho and Anderson were supported by the
Joseph Levy Foundation and the British Heart Foundation.
51
References 1. Braunlin E, Peoples WM, Freedom RM, Fyler DC, Goldblatt A, Edwards JE (1982) Interruption of the aortic arch with aorticopulmonary septal defect. Pediatr Cardiol 3:329-335 2. Lange LW, Sahn D J, Allen HD, Ovitt TW, Goldberg SJ (1980) Cross-sectional echocardiography in hypoplastic left ventricle: Echocardiographic-angiographic-anatomic correlations. Pediatr Cardiol 1:287-299 3. Rice MJ, Seward JB, Hagler DJ, Mair DD, Tajik AJ (1982) Visualisation of aortopulmonary window by two-dimensional echocardiography. M a y o Clin Proc 57:482-487 4. Rosenquist GC, Taylor JFN, Stark J (1974) Aortopulmonary fenestration and aortic atresia. Br Heart J 36:1146-1148 5. Smallhorn JF, Anderson RH, Macartney FJ (1982) Crosssectional echocardiographic recognition of interruption of the aortic arch between left carotid and subclavian arteries. Br Heart J 48:229-235
Pediatric Cardiology 9 Springer-VerlagNew York lnc, 1991
Aortic Atresia with Aortopuimonary of the Aortic Arch
Window and Interruption
Andrew N. Redington, Michael L. Rigby, Slew Y. Ho, Joel Gunthard, and Robert H. Anderson Department of Paediatrics, Brompton Hospital, London, U K
SUMMARY. The cross-sectional echocardiographic and postmortem appearances of the heart from a patient with the rare association of aortic valve atresia, aortopuimonary window, and interrupted aortic arch are described. Differentiation of this anomaly from truncns arteriosus with interrupted aortic arch is important. KEY WORDS: Aortic atresia--Aortopuimonary window--Interrupted aortic arch
The association of interruption of the aortic arch with aortopulmonary window is a well-recognized, albeit rare, condition [1]. The additional abnormality of aortic valve atresia has been reported only once before, the diagnosis having been made at postmortem [4]. We describe herein the morphological details of a further case, which was diagnosed in life by crosssectional echocardiography.
Case Report A 3.2-kg male presented on the 10th day of life with rapid onset of circulatory failure and shock. He was moribund on arrival at the Brompton Hospital. His heart rate was 180 beats/min, his blood pressure unrecordable, all peripheral pulses were impalpable, and his rectal temperature was 34~ On auscultation there was a loud ejection click, a single second heart sound, and a grade 2/6 ejection systolic murmur. The chest radiograph showed gross cardiomegaly and increased pulmonary vascular markings. The electrocardiogram demonstrated sinum rhythm with a mean frontal QRS axis of + 150 and a normal precordial R/S progression for age. Blood gas analysis revealed a profound metabolic acidosis (pH 6.7, base deficit 32). Following resuscitation with positive pressure ventilation, inotropic support, and the infusin of prostaglandin E2, crosssectional echocardiography was performed. There was a normal arrangement of the abdominal great vessels (situs solitus) with concordant atrioventricular and ventriculoarterial connexions. Subcostal short axis (Fig. IA) and
Address offprint requests to: Dr. Andrew N. Redington, Department of Pediatrics, Brompton Hospital, Fulham Road, London SW3 6HP, UK.
parasternal long-axis views confirmed the presence of a moderate-sized outlet ventricular septal defect (VSD) and aortic valve atresia. Coronary arteries were seen arising from the atretic aortic root in the parasternal short-axis view (Fig. IB). The pulmonary valve was mildly dysplastic. The left ventricle was of normal size. The ascending aorta appeared to be of normal size, and a large aortopulmonary communication was seen in subcostal right anterior oblique and high parasternal short-axis sections (Fig. 1C). Interruption of the aortic arch was confirmed in suprasternal parasaggital sections, with the ascending aorta giving rise to right and left common carotid arteries (Fig. ID). There was a large persistent arterial duct which was continuous with the descending aorta (Fig. IA, B). In view of the complexity of the cardiovascular abnormalities and the very poor condition of the baby, supportive measures were withdrawn following the echocardiographic examination. Permission for a postmortem was obtained.
P o s t m o r t e m Examination The heart was grossly enlarged. There was the usual atrial arrangement with concordant atrioventricular and ventriculoarterial connexions. The aorta and pulmonary trunk were normally related. The pulmonary trunk supplied the pulmonary arteries and, through a large arterial duct, the descending aorta. The two subclavian arteries arose from the descending aorta, the right subclavian passing behind the esophagus (Fig. 2). The ventricular origin of the aorta was blind-ending, with no identifiable valve tissue. The origin of the coronary arteries was normal. The ascending aorta was supplied by a 6-mm diameter aortopulmonary window (Fig. 2). The aortic arch was interrupted and the ascending aorta bifurcated to give rise to right and left common carotid arteries (Fig. 2). The left ventricle was smaller than the right but not hypoplastic. Its outlet was via a 4-mm VSD with exclusively muscular borders. The defect was subpulmonary with the muscular posteroinferior rim formed by the fusion of a large flange o f the ventriculoinfundibular fold and the posterior limb o f the sep-
50
Fig. 1. (A) Subcostal short-axis view showing muscular outlet ventricular septal defect (VSD). A large aortopulmonary communication can be seen between the atretic aorta (AO) and pulmonary trunk (PT). (B) Parasternal short-axis view demonstrating the large aortopulmonary communication. The right coronary artery (RCA) can be seen arising from the AO. (C) High parasternal short-axis view. The relationship between the PT and AO is normal. The aortopulmonary window (APW) is clearly seen. (D) Suprasternal parasaggital view of the AO. Both coronary arteries are seen arising from the aortic root. The ascending aorta is interrupted, giving rise to right and left common carotid arteries (RCC and LCC) only. RV, right ventricle; LV, left ventricle; RPA, right pulmonary artery; RA, right atrium; LA, left atrium RVOT, right ventricular outflow tract; DAO, descending aorta. Fig. 2. Posmortem specimen. The aortopulmonary window (arrows), atretic aortic root, and interrupted aortic arch are all clearly seen. Note the retroesophageal course of the anomalously arising right subclavian artery (RSC). RCA, right coronary artery; RCC, right common carotid; LCC, left common carotid; D, arterial duct; LSC, left subclavian artery; AO, atretic aorta; PT, pulmonary trunk~
tomaginal trabeculation. Had aortic valve tissue been identified, the VSD would have been of doubly committed and of juxtaarterial type.
Discussion This case is the second reported example, to our knowledge, of the combination of aortic valve atre-
Pediatric Cardiology Vol. 12, No. 1, 1991
sia, interruption of the aortic arch, aortopulmonary window, and a restrictive muscular outlet VSD. The coexistence of aortic valve atresia and interruption of the aortic arch is, of course, incompatible with life unless coronary arterial flow is preserved by the presence of an aortopulmonary communication. The previous example of this combination was reported by Rosenquist and colleagues [4], and the detailed morphological findings in our patient are remarkably similar to those of their patient. In particular, the relationship found between the atretic aorta and VSD, and the position and size of the aortopulmonary window. If surgical correction or palliation of this anomaly is contemplated, then early and complete diagnosis is important. However, cardiac catheterization in the sick neonate may be hazardous, and, in the previously reported case, aortography failed to demonstrate the aortic atresia and aortopulmonary window [4]. Taken separately, aortic atresia, aortopulmonary window, and interrupted aortic arch can all be accurately diagnosed by cross-sectional echocardiography [2, 3, 5]. It should be expected, therefore, that more complex associations of these anomalies should be diagnosed noninvasively, as in our case. Indeed, associated lesions should be actively excluded whenever one of these anomalies is identified. Differentiation from common arterial trunk with interruption of the aortic arch is important, and potentially difficult. The echocardiographic diagnosis must rely on the demonstration of
Redington et al,: Aortic Valve Atresia
a rim of aortopulmonary septum separating the atretic aortic root from the pulmonary root. The origin of the coronary arteries from the atretic aortic root may also aid the echocardiographer in confirming the diagnosis. The coexistence of aortic valve atresia, aortopulmonary window, interruption of the aortic arch, and a potentially restrictive muscular outlet VSD appears to be a specific syndrome of anomalies. It can be diagnosed by cross-sectional echocardiography and should be excluded in cases thought to be common arterial trunk with interrupted aortic arch. A c k n o w l e d g m e n t . Drs. Ho and Anderson were supported by the
Joseph Levy Foundation and the British Heart Foundation.
51
References 1. Braunlin E, Peoples WM, Freedom RM, Fyler DC, Goldblatt A, Edwards JE (1982) Interruption of the aortic arch with aorticopulmonary septal defect. Pediatr Cardiol 3:329-335 2. Lange LW, Sahn D J, Allen HD, Ovitt TW, Goldberg SJ (1980) Cross-sectional echocardiography in hypoplastic left ventricle: Echocardiographic-angiographic-anatomic correlations. Pediatr Cardiol 1:287-299 3. Rice MJ, Seward JB, Hagler DJ, Mair DD, Tajik AJ (1982) Visualisation of aortopulmonary window by two-dimensional echocardiography. M a y o Clin Proc 57:482-487 4. Rosenquist GC, Taylor JFN, Stark J (1974) Aortopulmonary fenestration and aortic atresia. Br Heart J 36:1146-1148 5. Smallhorn JF, Anderson RH, Macartney FJ (1982) Crosssectional echocardiographic recognition of interruption of the aortic arch between left carotid and subclavian arteries. Br Heart J 48:229-235
