Ann Thorac Surg 2003;75:280-282
© 2003 The Society of Thoracic Surgeons
Case report
Absent pulmonary valve syndrome with intact ventricular septum and patent ductus arteriosus: report of two cases and a short review of the literature
Heynric B. Grotenhuis, MD*a,
Aagje Nijveld, MDb,
Ad Backx, MDc
a Department of Pediatric Intensive Care, University Hospital UMC St. Radboud Nijmegen, Nijmegen, Netherlands
b Department of Cardiothoracic Surgery, University Hospital UMC St. Radboud Nijmegen, Nijmegen, Netherlands
c Department of Pediatric Cardiology, University Medical Center St. Radboud, Nijmegen, The Netherlands
Accepted for publication August 14, 2002.
* Address reprint requests to Dr Grotenhuis, University Medical Center St. Radboud, Department of Pediatric Intensive Care, Postal Code 9101, 6500 HB Nijmegen, The Netherlands
e-mail: hgrotenhuis{at}hotmail.com
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Abstract
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We describe two patients who both presented shortly after birth with congestive heart failure due to an absent pulmonary valve and patent ductus arteriosus. Diagnostic evaluation revealed in both cases an aneurysmatic dilation of the pulmonary vascular tree and an abundant left-to-right shunt over a large patent ductus arteriosus. Ventricular septal defects were not detected. Early surgical closure of the patent ductus arteriosus improved the hemodynamic situation so that implantation of a homograft valve could be delayed.
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Introduction
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Absent pulmonary valve syndrome is a rare congenital anomaly of unknown etiology. It is characterized by dysplastic or absent pulmonary valve tissue with ample regurgitant blood flow [1–8]. This malformation is usually associated with tetralogy of Fallot and was first described in 1847 by Chever [1]. In a minority of cases both an intact ventricular septum and patent ductus arteriosus (PDA) are present [2–4]. Most patients are not diagnosed until years after birth but several cases have been reported in which cardiorespiratory distress developed during the neonatal period. Severe cardiac failure due to right ventricular volume overload is a major complication whereas pulmonary complications occur when massively dilated pulmonary arteries cause tracheobronchial compression [3, 4, 6]. We describe two patients with absent pulmonary valve syndrome with intact ventricular septum and PDA.
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Case reports
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Patient 1
A 1-day-old baby was admitted to our hospital because of cyanosis. Pregnancy and delivery were uneventful. The patient was tachydyspnoic and cyanotic with regular heartbeats and a loud "to-and-fro" murmur over the left sternal border. Hepatomegaly was present. The baby had distinct dysmorphic characteristics and subsequent chromosomal investigation revealed a small deletion of the long arm of chromosome 4. Two-dimensional echocardiography and cardiac catheterization with angiography demonstrated absence of the pulmonary valve, an intact ventricular septum, and a large PDA with an abundant left-to-right shunt. Initially the main pulmonary artery and its branches had normal diameters but within 2 weeks both the main pulmonary artery and left pulmonary artery grossly dilated causing compression of the left main bronchus. As a result respiratory insufficiency developed and the patient required mechanical ventilation. It was then decided to surgically close the PDA to relieve the pulmonary hypercirculation. Afterwards the patient was soon weaned from mechanical ventilation. He was discharged on a regimen of digoxine.
At follow-up the patient has no signs of cardiorespiratory distress despite a tendency to recurrent upper airway infections and tachypnea during exercise. Cardiac catheterization and angiography conducted at 1 year showed the previously known anomalies without progressive compression of the left main bronchus. Surprisingly the ascending aorta was also dilated (Fig 1).
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Fig 1. Patient 1: Parasternal short axis echocardiogram demonstrating the dilated main pulmonary artery (PA), proximal left pulmonary artery (LPA), and the less dilated right pulmonary artery (RPA). Also note the markedly increased size of the ascending aorta (AO).
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Patient 2
A 5-day-old boy was admitted to our hospital because of cyanosis and poor feeding. He was born at full term by cesarean section. The baby was cyanotic and tachydyspnoic with regular heartbeats and a grade 4/6 "to-and-fro" murmur along the left sternal border. Hepatomegaly was present. The chest roentgenogram showed marked cardiomegaly and pulmonary congestion. The trachea was shifted towards the right. Two-dimensional echocardiography demonstrated a grossly dilated main pulmonary artery, thickened leaflets of a stenotic pulmonary valve with insufficiency, and a PDA with an abundant left-to-right shunt. The ventricular septum appeared to be intact. Cardiac catheterization and angiography confirmed the echocardiographic findings. The patient’s clinical condition deteriorated rapidly, requiring mechanical ventilation. It was then decided to surgically close the PDA. Immediately after closure of the ductus the pulmonary vascular system decreased in size. Postoperatively the dyspnoe resolved. At the age of 14 years the patient’s exercise tolerance decreased significantly. The decision was then made to implant a pulmonary homograft with plication of the dilated main pulmonary artery. The operation was uneventful and at follow-up the patient’s exercise tolerance had markedly improved.
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Comment
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Absent pulmonary valve syndrome with intact ventricular septum—so-called solitary absent pulmonary valve syndrome—and PDA has been reported by several authors as a rare congenital malformation [1–8]. Usually absent pulmonary valve syndrome is associated with tetralogy of Fallot and accounts for 3% of all tetralogy of Fallot cases [2]. A characteristic feature of absent pulmonary valve syndrome is an aneurysmatic dilatation of the pulmonary arteries, sometimes resulting in compression of the airways with severe respiratory distress in the early neonatal period [3, 5, 7].
Clinical manifestations of solitary absent pulmonary valve syndrome tend to be related to the presence of a PDA and to the degree of pulmonary annular stenosis. In particular neonatal cardiorespiratory distress is related to the presence of a PDA with its left-to-right shunt directly increasing pulmonary congestion and right ventricular volume overload [3–5, 7, 8]. The size of the ductus is related to the severity of symptoms [4, 5, 8]. The increased right ventricular stroke volume due to pulmonary regurgitation in absent pulmonary valve syndrome together with the left-to-right shunt over the PDA result in pulmonary artery dilatation and congestion—a phenomenon Rabinovitch and coworkers [3] observed in one of their patients as well.
Several theories have been postulated to explain the dilation of the pulmonary arteries. Rabinovitch and colleagues [3] suggest that this phenomenon reflects primary defects in the arterial wall. Thickened and fragmented elastic lamina in proximal pulmonary arteries of patients with absent pulmonary valve syndrome support this hypothesis [3]. However these findings are not specific and could be the result of increased wall stress, identical to changes seen in pulmonary hypertensive arteriopathy [2]. Emmanouilidis and coworkers [5] mention that histologic abnormalities similar to those in Marfan’s syndrome have only been described in a few cases whereas in the majority a normal wall architecture was found. In this respect the first patient is of interest because of the dilation of the ascending aorta at follow-up that was suggestive of a coexisting connective tissue disorder.
According to Emmanouilidis and colleagues [5] absence of the arterial duct plays an important role in the development of absent pulmonary valve syndrome. In their opinion agenesis of the arterial duct causes dilatation of the pulmonary arterial trunk while the absence of right-to-left shunt through the duct contributes to maldevelopment of the pulmonary valve. Our patients and those reported by others, however, clearly show that absent pulmonary valve syndrome and a PDA can coexist [2–4, 7].
Deletions in chromosome 22 are common among patients with absent pulmonary valve syndrome. Podzimkova and colleagues [2] speculate that absent pulmonary valve syndrome consists of two entities with different etiologies. The first is associated with tetralogy of Fallot and chromosome 22q11 deletion. The second is solitary absent pulmonary valve syndrome that can be explained by a maldevelopment of the pulmonary valve with hemodynamic changes leading to dilation of pulmonary arteries [2].
The left and right pulmonary artery differ in size in both our patients. Lakier [6] reports a relationship between the spatial orientation of the infundibulum and dilation of branch pulmonary arteries: rightward orientation is associated with right pulmonary artery dilatation whereas the left pulmonary artery becomes aneurysmatic if the infundibulum is vertically oriented or toward the left [6].
Several treatments for solitary absent pulmonary valve syndrome have been described. Some authors favor a conservative approach that includes decreasing pulmonary arteriolar resistance and limitation of pulmonary regurgitation [8]. However, ligation of the PDA as we describe in this report is the option of first choice to improve severe cardiorespiratory failure.
To minimize right ventricular volume overload Alpert and Moore [4] implanted a pulmonary homograft at a very young age. Long-term follow-up as described in the literature and exemplified in one of our patients, however, demonstrates the possibility of a long period of clinical stability without the insertion of a pulmonary homograft. Pulmonary arterioplasty is only necessary when bronchial compression and severe respiratory symptoms are present.
This report demonstrates the progression of findings in 2 patients with congenital absence of the pulmonary valve, and PDA. We strongly advocate early ligation of the PDA before signs of severe cardiorespiratory failure do occur. Insertion of a pulmonary homograft—if necessary at all—with or without pulmonary arterioplasty can be delayed until a later stage.
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References
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- Chevers N. Recherches sur les maladies de l’artere pulmonaire. Arch Gen Med 1847;15:488-508.
- Podzimkova J., Hickey M.S.J., Slavik Z., et al. APVS with IVS. Role of ductus arteriosus revisited. Int J Cardiol 1997;61:109-112.[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]
- Alpert B., Moore H.V. Absent pulmonary valve with ASD and PDA. Pediatr Cardiol 1985;6:107-112.[Medline]
- Emmanouilides G.C., Thanopoulos B., Siassa B., Fishbein M. Agenesis of ductus arteriosus associated with the syndrome of TOF and absent pulmonary valve. Am J Cardiol 1976;37:403-409.[Medline]
- Lakier J.B. TOF with absent pulmonary valve: natural history and hemodynamic considerations. Circulation 1974;50:167-174.[Abstract/Free Full Text]
- Mainwaring R.D., Lamberti J.J., Spicer R.L. Management of APVS with PDA. J Card Surg 1993;8:148-155.[Medline]
- Horigome H., Sakakibara Y., Atsumi N., Miyamoto T., Sato H. Absent pulmonary valve with IVS presenting as cardiorespiratory failure at birth. Pediatr Card 1997;18:136-138.
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M. A. Norgaard, N. Alphonso, A. E. Newcomb, C. P. Brizard, and A. D. Cochrane
Absent pulmonary valve syndrome: Surgical and clinical outcome with long-term follow-up
Eur J Cardiothorac Surg,
May 1, 2006;
29(5):
682 - 687.
[Abstract]
[Full Text]
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Abstract
Introduction
