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Double-lumen aortic arch with anomalous left pulmonary artery origin from the main pulmonary artery–bilateral persistent fifth aortic arch – a case report
International Journal of Cardiology 69 (1999) 105–108
Double-lumen aortic arch with anomalous left pulmonary artery origin from the main pulmonary artery–bilateral persistent fifth aortic arch – a case report a a, b Jieh-Neng Wang , Jing-Ming Wu *, Yu-Jen Yang a
Department of Pediatrics, National Cheng Kung University Hospital, Sheng Li Road, Tainan 70428, Taiwan b Department of Surgery, National Cheng Kung University Hospital, Tainan, Taiwan Received 28 October 1998; accepted 11 January 1999
Abstract Both double-lumen aortic arch (i.e., persistent fifth arch) and anomalous origin of the left pulmonary artery from the ascending aorta (failure of the development of the sixth arch) are rare diseases. They are frequently associated with cardiovascular anomalies. However, the co-occurrence of these two diseases has not been previously reported. We report such a case in a female baby with facial anomalies similar to conotruncal anomaly face syndrome. 1999 Elsevier Science Ireland Ltd. All rights reserved. Keywords: Anomalous origin of left pulmonary artery from aorta; Conotruncal anomaly face syndrome; Persistent fifth arch
1. Introduction Persistent fifth aortic arch with an ipsilateral fourth arch is a rare congenital anomaly with only 21 cases reported in the world literature since 1969 [1,2]. Anomalous origin of the left pulmonary artery from the ascending aorta (failure of the development of the left sixth arch with persistent ipsilateral fifth arch) is also a rare disease [3,4]. Both of these diseases are frequently associated with cardiovascular anomalies. However, the co-occurrence of these two diseases has not been reported previously.
*Corresponding author. Tel.: 1886-6-2353535, extn. 5641; fax: 18866-2753083.
2. Case report This female baby was born at term with a birth weight of 1.47 kg via normal spontaneous vaginal delivery. Prenatal ultrasound examination revealed severe intra-uterine growth retardation, oligohydramnio and a large ventricular septal defect 1 month before delivery. There was no prenatal history of any maternal illness, radiation or drug exposure. This baby had facial dysmorphism with low-set ears, micrognathia, hypoplastic mandible and a cleft palate. The cardiac examination revealed an accentuated P2 and a grade 2 / 6 pansystolic murmur along the left sternal border. Echocardiographic examination showed a double outlet right ventricle with a ventricular septal defect committed to the aorta, an anomalous origin of the left pulmonary artery from the ascending aorta, a right aortic arch and a right sided patent ductus arteriosus (Fig. 1).
0167-5273 / 99 / $ – see front matter 1999 Elsevier Science Ireland Ltd. All rights reserved. PII: S0167-5273( 99 )00011-X
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J.-N. Wang et al. / International Journal of Cardiology 69 (1999) 105 – 108
Fig. 1. Echocardiogram. Left panel (parasternal long axis view): the aorta is almost committed to the anterior right ventricle and the ventricular septal defect is the sole outlet from the left ventricle. Right panel (subcostal longitudinal view): an anomalous origin of the left pulmonary artery from the ascending aorta (arrowhead).
Because of persistent heart failure, banding of the main pulmonary artery, re-implantation of the left pulmonary artery to the main pulmonary artery and ductus arteriosus ligation were performed at 44 days old. Her heart failure was improved after the surgery and she was finally discharged at the age 4 months. Chromosome study later revealed a normal 46 XX female karyotype. Due to the progressive worsening of her cyanosis with a transcutanoeus oxygen saturation of 75%, cardiac catheterization was performed at 33 months old, confirming the previous echocardiographic diagnosis of a double outlet right ventricle. It also revealed subpulmonary stenosis, pulmonary stenosis at the banding site, and a hypoplastic left pulmonary artery. In addition, the aortogram revealed a right sided double lumen aortic arch that was superiorly and inferiorly oriented (Fig. 2), which was compatible with the diagnosis of a persistent fifth aortic arch. The catheter could enter both arches from the descending aorta. There was a coarctation of the aorta in the isthmus area of the superior arch. Subsequent magnetic resonance imaging confirmed the above findings without any encroachment of the trachea or the esophagus. A left modified Blalock–Taussig shunt was performed after the cardiac catheterization.
3. Discussion Both double lumen aortic arch and anomalous origin of the left pulmonary artery from the ascending aorta are rare diseases. The former is caused by a persistent fifth arch ispsilateral to the fourth arch (which forms the normal aortic arch) [5]. The latter is believed to be caused by the absence of a left sixth arch and a persistent ipsilateral fifth arch [3,4]. Therefore, both diseases are caused by arch anomalies. Although both of these diseases may occur as an isolated lesion, they are more frequently associated with congenital heart diseases. Double-lumen aortic arch can be associated with cor triatrium, truncus arteriosus, patent ductus arteriosus, pulmonary atresia, tetralogy of Fallot, aortopulmonary window, ventricular septal defect, transposition of the great arteries, interrupted aortic arch and coarctation of the aorta [6]. Anomalous origin of the left pulmonary artery from the ascending aorta is usually associated with a right aortic arch or a tetralogy of Fallot with a left aortic arch [4]. To our knowledge, the co-occurrence of a double-lumen aortic arch and an anomalous origin of the left pulmonary artery from the ascending aorta (i.e., bilateral persistent fifth arch and
J.-N. Wang et al. / International Journal of Cardiology 69 (1999) 105 – 108
107
Fig. 2. Asending aortogram. Right panel (lateral view): double aortic arch (superior and inferior oriented). There was a coarctation of aorta in the superior arch at its isthmus (arrowhead). Left panel (posteroanterior view): a remnant of the previous left pulmonary artery arising from the ascending aorta (arrowhead).
agenesis of a left sixth arch) has not been reported previously. Persistent fifth arch can be either right or left sided and is classified into the following three types: (a) double-lumen aortic arch with both lumina patent; (b) atresia or interruption of the superior arch with patent inferior arch; (c) systemic-to-pulmonary arterial connection arising proximal to the first brachiocephalic artery [2,5]. Of these, double-lumen aortic arch is the most common type. The present case of a right side double-lumen aortic arch belongs to this type. Although there was a coarctation in the isthmus region of the superior (fourth) arch, due to the patency of the inferior (fifth) arch, this coarctation did not cause any hemodynamic compromise. The right sixth arch (patent ductus arteriosus) was ligated during the surgery. In the present case the left fourth arch underwent a normal regression. Developmental failure of the left sixth arch may have forced the left pulmonary artery to arise from the left fifth arch. Thus, the left pulmonary artery originated abnormally from the ascending aorta [3,4]. Lawrence et al. [7] reported a case of persistent fifth aortic arch with multiple congenital anomalies
including dislocation of the hip and facial anomaly, with a history of prenatal exposure to trimethadione. In the present case there was no significant history of drug exposure. Facial anomalies included low-set ears, micrognathia, hypoplastic mandible and cleft palate. The associated cardiac lesions of double outlet right ventricle are a kind of conotrucal anomaly. Thus this case can also be classified as conotruncal anomaly face syndrome [8]. The management of persistent fifth aortic arch depends on the associated lesions. While limiting the pulmonary blood flow by the pulmonary artery banding procedure may be helpful in the presence of heart failure, palliative shunt procedure is needed for cyanosis if total repair is not feasible. An early re-implantation of the anomalous origin of the left pulmonary artery from the main pulmonary artery can avoid the development of irreversible pulmonary hypertension. Awareness of the presence of these lesions and an understanding of their embryological origins is necessary for diagnosis of these diseases. In conclusion, we report the case of a patient with bilateral persistent fifth aortic arch, and absence of left sixth arch with facial anomalies similar to conotruncal anomaly face syndrome.
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J.-N. Wang et al. / International Journal of Cardiology 69 (1999) 105 – 108
Acknowledgements We are grateful to Professor Ming-Lon Young (University of Miami) for reviewing the manuscript.
References [1] Van Praagh R, Van Praagh S. Persistent fifth arterial arch in man: congenital double lumen aortic arch. Am J Cardiol 1969;24:279–82. [2] Gerlis LM, Ho SY, Anderson RH, Costa PD. Persistent 5th aortic arch – a great pretender: three new covert cases. Int J Cardiol 1989;23:239–47. [3] Binder M. The teratogenic effects of a bis(dishloroacetyl)diamine on hamster embryos – aortic arch anomalies and the pathogenesis of the DiGeorge syndrome. Am J Pathol 1985;118:179–83.
[4] Kutsche LM, Van Mierop LH. Anomalous origin of a pulmonary artery from the ascending aorta: associated anomalies and pathogenesis. Am J Cardiol 1988;61:850–6. [5] Weinberg PM. Aortic arch anomalies. In: Emmanouilides GC, Riemenschneider TA, Allen HD, Gutgesell HP et al., editors, Heart disease in infants, children, and adolescent, 5th, Williams & Wilkins, Baltimore, 1995, pp. 810–37. [6] Gerlis LM, Dickinson DF, Wilson N, Gibbs JL. Persistent fifth aortic arch. A report of two new cases and a review of the literature. Int J Cardiol 1987;16:185–92. [7] Lawrence TYK, Stiles QR. Persistent fifth aortic arch in man. Am J Dis Child 1975;129:1229–31. [8] Matsuoka R, Takao A, Kimura M et al. Confirmation that the conotruncal anomaly face syndrome is associated with deletion within 22q11.2. Am J Med Genet 1993;45:313–9.
Double-lumen aortic arch with anomalous left pulmonary artery origin from the main pulmonary artery–bilateral persistent fifth aortic arch – a case report a a, b Jieh-Neng Wang , Jing-Ming Wu *, Yu-Jen Yang a
Department of Pediatrics, National Cheng Kung University Hospital, Sheng Li Road, Tainan 70428, Taiwan b Department of Surgery, National Cheng Kung University Hospital, Tainan, Taiwan Received 28 October 1998; accepted 11 January 1999
Abstract Both double-lumen aortic arch (i.e., persistent fifth arch) and anomalous origin of the left pulmonary artery from the ascending aorta (failure of the development of the sixth arch) are rare diseases. They are frequently associated with cardiovascular anomalies. However, the co-occurrence of these two diseases has not been previously reported. We report such a case in a female baby with facial anomalies similar to conotruncal anomaly face syndrome. 1999 Elsevier Science Ireland Ltd. All rights reserved. Keywords: Anomalous origin of left pulmonary artery from aorta; Conotruncal anomaly face syndrome; Persistent fifth arch
1. Introduction Persistent fifth aortic arch with an ipsilateral fourth arch is a rare congenital anomaly with only 21 cases reported in the world literature since 1969 [1,2]. Anomalous origin of the left pulmonary artery from the ascending aorta (failure of the development of the left sixth arch with persistent ipsilateral fifth arch) is also a rare disease [3,4]. Both of these diseases are frequently associated with cardiovascular anomalies. However, the co-occurrence of these two diseases has not been reported previously.
*Corresponding author. Tel.: 1886-6-2353535, extn. 5641; fax: 18866-2753083.
2. Case report This female baby was born at term with a birth weight of 1.47 kg via normal spontaneous vaginal delivery. Prenatal ultrasound examination revealed severe intra-uterine growth retardation, oligohydramnio and a large ventricular septal defect 1 month before delivery. There was no prenatal history of any maternal illness, radiation or drug exposure. This baby had facial dysmorphism with low-set ears, micrognathia, hypoplastic mandible and a cleft palate. The cardiac examination revealed an accentuated P2 and a grade 2 / 6 pansystolic murmur along the left sternal border. Echocardiographic examination showed a double outlet right ventricle with a ventricular septal defect committed to the aorta, an anomalous origin of the left pulmonary artery from the ascending aorta, a right aortic arch and a right sided patent ductus arteriosus (Fig. 1).
0167-5273 / 99 / $ – see front matter 1999 Elsevier Science Ireland Ltd. All rights reserved. PII: S0167-5273( 99 )00011-X
106
J.-N. Wang et al. / International Journal of Cardiology 69 (1999) 105 – 108
Fig. 1. Echocardiogram. Left panel (parasternal long axis view): the aorta is almost committed to the anterior right ventricle and the ventricular septal defect is the sole outlet from the left ventricle. Right panel (subcostal longitudinal view): an anomalous origin of the left pulmonary artery from the ascending aorta (arrowhead).
Because of persistent heart failure, banding of the main pulmonary artery, re-implantation of the left pulmonary artery to the main pulmonary artery and ductus arteriosus ligation were performed at 44 days old. Her heart failure was improved after the surgery and she was finally discharged at the age 4 months. Chromosome study later revealed a normal 46 XX female karyotype. Due to the progressive worsening of her cyanosis with a transcutanoeus oxygen saturation of 75%, cardiac catheterization was performed at 33 months old, confirming the previous echocardiographic diagnosis of a double outlet right ventricle. It also revealed subpulmonary stenosis, pulmonary stenosis at the banding site, and a hypoplastic left pulmonary artery. In addition, the aortogram revealed a right sided double lumen aortic arch that was superiorly and inferiorly oriented (Fig. 2), which was compatible with the diagnosis of a persistent fifth aortic arch. The catheter could enter both arches from the descending aorta. There was a coarctation of the aorta in the isthmus area of the superior arch. Subsequent magnetic resonance imaging confirmed the above findings without any encroachment of the trachea or the esophagus. A left modified Blalock–Taussig shunt was performed after the cardiac catheterization.
3. Discussion Both double lumen aortic arch and anomalous origin of the left pulmonary artery from the ascending aorta are rare diseases. The former is caused by a persistent fifth arch ispsilateral to the fourth arch (which forms the normal aortic arch) [5]. The latter is believed to be caused by the absence of a left sixth arch and a persistent ipsilateral fifth arch [3,4]. Therefore, both diseases are caused by arch anomalies. Although both of these diseases may occur as an isolated lesion, they are more frequently associated with congenital heart diseases. Double-lumen aortic arch can be associated with cor triatrium, truncus arteriosus, patent ductus arteriosus, pulmonary atresia, tetralogy of Fallot, aortopulmonary window, ventricular septal defect, transposition of the great arteries, interrupted aortic arch and coarctation of the aorta [6]. Anomalous origin of the left pulmonary artery from the ascending aorta is usually associated with a right aortic arch or a tetralogy of Fallot with a left aortic arch [4]. To our knowledge, the co-occurrence of a double-lumen aortic arch and an anomalous origin of the left pulmonary artery from the ascending aorta (i.e., bilateral persistent fifth arch and
J.-N. Wang et al. / International Journal of Cardiology 69 (1999) 105 – 108
107
Fig. 2. Asending aortogram. Right panel (lateral view): double aortic arch (superior and inferior oriented). There was a coarctation of aorta in the superior arch at its isthmus (arrowhead). Left panel (posteroanterior view): a remnant of the previous left pulmonary artery arising from the ascending aorta (arrowhead).
agenesis of a left sixth arch) has not been reported previously. Persistent fifth arch can be either right or left sided and is classified into the following three types: (a) double-lumen aortic arch with both lumina patent; (b) atresia or interruption of the superior arch with patent inferior arch; (c) systemic-to-pulmonary arterial connection arising proximal to the first brachiocephalic artery [2,5]. Of these, double-lumen aortic arch is the most common type. The present case of a right side double-lumen aortic arch belongs to this type. Although there was a coarctation in the isthmus region of the superior (fourth) arch, due to the patency of the inferior (fifth) arch, this coarctation did not cause any hemodynamic compromise. The right sixth arch (patent ductus arteriosus) was ligated during the surgery. In the present case the left fourth arch underwent a normal regression. Developmental failure of the left sixth arch may have forced the left pulmonary artery to arise from the left fifth arch. Thus, the left pulmonary artery originated abnormally from the ascending aorta [3,4]. Lawrence et al. [7] reported a case of persistent fifth aortic arch with multiple congenital anomalies
including dislocation of the hip and facial anomaly, with a history of prenatal exposure to trimethadione. In the present case there was no significant history of drug exposure. Facial anomalies included low-set ears, micrognathia, hypoplastic mandible and cleft palate. The associated cardiac lesions of double outlet right ventricle are a kind of conotrucal anomaly. Thus this case can also be classified as conotruncal anomaly face syndrome [8]. The management of persistent fifth aortic arch depends on the associated lesions. While limiting the pulmonary blood flow by the pulmonary artery banding procedure may be helpful in the presence of heart failure, palliative shunt procedure is needed for cyanosis if total repair is not feasible. An early re-implantation of the anomalous origin of the left pulmonary artery from the main pulmonary artery can avoid the development of irreversible pulmonary hypertension. Awareness of the presence of these lesions and an understanding of their embryological origins is necessary for diagnosis of these diseases. In conclusion, we report the case of a patient with bilateral persistent fifth aortic arch, and absence of left sixth arch with facial anomalies similar to conotruncal anomaly face syndrome.
108
J.-N. Wang et al. / International Journal of Cardiology 69 (1999) 105 – 108
Acknowledgements We are grateful to Professor Ming-Lon Young (University of Miami) for reviewing the manuscript.
References [1] Van Praagh R, Van Praagh S. Persistent fifth arterial arch in man: congenital double lumen aortic arch. Am J Cardiol 1969;24:279–82. [2] Gerlis LM, Ho SY, Anderson RH, Costa PD. Persistent 5th aortic arch – a great pretender: three new covert cases. Int J Cardiol 1989;23:239–47. [3] Binder M. The teratogenic effects of a bis(dishloroacetyl)diamine on hamster embryos – aortic arch anomalies and the pathogenesis of the DiGeorge syndrome. Am J Pathol 1985;118:179–83.
[4] Kutsche LM, Van Mierop LH. Anomalous origin of a pulmonary artery from the ascending aorta: associated anomalies and pathogenesis. Am J Cardiol 1988;61:850–6. [5] Weinberg PM. Aortic arch anomalies. In: Emmanouilides GC, Riemenschneider TA, Allen HD, Gutgesell HP et al., editors, Heart disease in infants, children, and adolescent, 5th, Williams & Wilkins, Baltimore, 1995, pp. 810–37. [6] Gerlis LM, Dickinson DF, Wilson N, Gibbs JL. Persistent fifth aortic arch. A report of two new cases and a review of the literature. Int J Cardiol 1987;16:185–92. [7] Lawrence TYK, Stiles QR. Persistent fifth aortic arch in man. Am J Dis Child 1975;129:1229–31. [8] Matsuoka R, Takao A, Kimura M et al. Confirmation that the conotruncal anomaly face syndrome is associated with deletion within 22q11.2. Am J Med Genet 1993;45:313–9.