Ann Thorac Surg 1998;66:244-246
© 1998 The Society of Thoracic Surgeons
Case Reports
Absent pulmonary valve syndrome with interrupted aortic arch
Carmelo Mignosa, MDa,
Dirk G. Wilson, MRCPa,
Andrew Wood, FRCRa,
C. Richard Kirk, FRCPb,
Francesco Musumeci, MDa
a Congenital Heart Disease Centre, University Hospital of Wales, Cardiff, United Kingdom
b Department of Radiology, University Hospital of Wales, Cardiff, United Kingdom
Accepted for publication January 26, 1998.
Address reprint requests to Dr Musumeci, Congenital Heart Disease Centre, University Hospital of Wales, Health Park, Cardiff CF4 4XW, United Kingdom
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Abstract
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A surgically treated case of absent pulmonary valve syndrome associated with type B interrupted aortic arch is presented. The presence of a restrictive ductus arteriosus promoted the development of a collateral circulation between ascending and descending thoracic aorta, allowing the child to remain clinically stable after birth.
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Introduction
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Chevers [1] in 1847 first described congenital absence of the pulmonary valve. Since then many cases of absent pulmonary valve syndrome (APVS) have been reported. The lesion has rarely been described in isolation and more often is associated with various congenital heart defects, usually tetralogy of Fallot. We report on a patient with APVS and interrupted aortic arch, and analyze the role the restrictive ductus arteriosus may have played.
A fetal echocardiogram at 21 weeks’ gestation demonstrated dextrocardia, situs solitus, and concordant atrioventricular and ventriculoarterial connection. There was a large ventricular septal defect, pulmonary stenosis and regurgitation, and dilatation of the main pulmonary artery consistent with APVS (Fig 1). Pulsed-wave Doppler echocardiography suggested a pressure drop across the ductus, from pulmonary artery to descending aorta.
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Fig 1. The dilated main pulmonary artery (MPA) is seen with aliasing of the Doppler color flow caused by an increased velocity of flow across the pulmonary annulus. The ventricular septal defect (VSD) is also seen. (RV = right ventricle.)
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A male infant weighing 2.6 kg was delivered at term. Pulses were palpable and there was no discrepancy between upper and lower limb pressures. In addition to the antenatal findings, echocardiography demonstrated type B interrupted aortic arch, but with pulsatile flow in the descending aorta. The ductus arteriosus remained restrictive, with a continuous left-to-right flow and a peak. Doppler velocity of 3 m/s. As the baby was asymptomatic and his circulation was not ductus dependent, an elective operation was postponed to allow for a period of growth. After a few months, a remarkable discrepancy between head circumference (90th centile) and body weight, and developmental delay were detected. He also had recurrent lower respiratory tract infections and failure to thrive. Results of chromosome 22 fluorescent in situ hybridization studies were normal [2]. Cardiac catheterization and magnetic resonance imaging confirmed the anatomy and, additionally, showed extensive, tortuous anastomoses between the carotid and vertebral arteries at the level of the skull base, extracranially (Figs 2, 3). Thus, blood was able to flow from the ascending aorta into the carotid arteries, through the anastomoses, and retrogradely, via the vertebral and subclavian arteries, to the descending thoracic aorta. The right subclavian artery rose anomalously from the descending aorta and coursed posterior to the esophagus compressing its wall.
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Fig 2. Early and late arterial phase images from a left ventriculogram. (A) Early phase demonstrates the ascending aorta bifurcating into right and left common carotid arteries. (B) Late phase demonstrates opacification of the vertebral and proximal subclavian arteries, which join to supply the descending thoracic aorta.
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Fig 3. Gated spin-echo magnetic resonance images. (A) Dilated pulmonary artery (PA) communicating with the descending thoracic aorta (Ao) via a minute patent ductus arteriosus (PDA). Bifurcation of the descending thoracic aorta into left and retroesophageal right subclavian arteries can be seen. (B) Transverse image just below the skull base demonstrating large, tortuous collaterals between the internal carotid arteries and the vertebral arteries. (LIC = left internal carotid artery; LSA = left subclavian artery; LVA = left vertebral artery; RIC = right internal carotid artery; RSA = right subclavian artery; RVA = right vertebral artery.)
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A one-stage repair was undertaken when the patient was 11 months of age. On cardiopulmonary bypass, core temperature was reduced to 15°C. Meanwhile the ascending aorta, carotid arteries, and the distal thoracic aorta were dissected free and the ductus arteriosus was divided. Continuity between proximal and distal aortic arch was achieved by end-to-side anastomosis during 46 minutes of circulatory arrest. The retroesophageal right subclavian artery was divided to relieve the esophageal obstruction. A 2-cm incision was carried across the pulmonary annulus into the right ventricular outflow tract. The pulmonary valve appeared to be a ring of nodular, gelatinous tissue. Through the right ventriculotomy, the ventricular septal defect was patched. A monocusp from a 22-mm aortic homograft was used to reconstruct the outflow tract.
The postoperative course was complicated by labile blood pressure, neurologic dysfunction (characterized by choreiform movements and lower limb hypotonia), and prolonged (35 days) assisted ventilation. After discharge there has been an improvement in the neurologic status; however, at the last follow-up, 2 years after the operation, neurologic signs consistent with cerebral palsy persist.
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Comment
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The etiology of APVS is not yet clear, although a role has been ascribed to the ductus arteriosus during fetal life. Emmanouilides and associates [3] first proposed a pathogenetic correlation between the absence of the ductus arteriosus early in the intrauterine life and the pulmonary artery dilatation. But evidence of APVS in combination with a patent ductus arteriosus, reported by several authors [4, 5], has weakened this hemodynamic theory. The additional presence of abnormal bronchial anatomy led Rabinovitch and colleagues [6] to suggest an intrauterine insult at or before the 25th to the 38th gestational day.
In this case, a patent but restrictive ductus arteriosus was detected at 21 weeks’ gestation together with the morphologic features of APVS. In our opinion the restricted flow through the ductus arteriosus promoted the development of a large systemic collateral circulation around the interruption during the fetal life. Flow between the ascending and descending thoracic aorta was maintained via the cerebral vessels, allowing the child to remain clinically stable after birth.
It is difficult to make any inference on the role the ductus arteriosus may have played on the pathogenesis of the APVS. The unusual association of APVS with interrupted aortic arch may, however, allow some consideration on the pathogenesis of the APVS. As both the aortic arch and right subclavian artery originate from the IV aortic arch, the presence of type B interrupted aortic arch and retroesophageal right subclavian artery, implies that a mutagenic event occurred between the 24th and the 38th gestation day, during the development of the aortic arches. It is probably during the same gestational period that the abnormalities characteristic of the APVS appear. It may be possible that a single insult during embryogenesis caused the unusual association of the two lesions. This case therefore gives support to the theory proposed by Rabinovitch and colleagues.
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References
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- Chevers N. Recherches sur les maladies de l’artère pulmonaire. Arch Gen Med 1847;15:488-508.
- Johnson M.C., Strauss A.W., Dowton S.B., et al. Deletion within chromosome 22 is common in patients with absent pulmonary valve syndrome. Am J Cardiol 1995;76:66-69.[Medline]
- Emmanouilides G.C., Thanopoulos B., Siassi B., Fishbein M. "Agenesis’ of ductus arteriosus associated with the syndrome of Fallot and absent pulmonary valve. Am J Cardiol 1976;37:403-409.[Medline]
- McCaughan B.C., Danielson G.K., Driscoll D.J., McGoon D.C. Tetralogy of Fallot with absent pulmonary valve. Early and late results of surgical treatment. J Thorac Cardiovasc Surg 1985;89:280-287.[Abstract]
- Ettedgui J.A., Sharland G.K., Chita S.K., Cook A., Fagg N., Allan L.D. Absent pulmonary valve syndrome with ventricular septal defect: role of the arterial duct. Am J Cardiol 1990;66:233-234.[Medline]
- Rabinovitch M., Grady S., David I., et al. Compression of intrapulmonary bronchi by abnormally branching pulmonary arteries associated with absent pulmonary valves. Am J Cardiol 1982;50:804-813.[Medline]
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[Abstract]
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Abstract
Introduction
