Diffuse Pulmonary Arteriovenous Malformation in a Child with Polysplenia Syndrome

Pulmonary arteriovenous malformation (PAVM) is usually seen as a well-circumscribed cysticmass. In this communication we describe a diffuse arteriovenous malformation in a 5-month-old infant. The lesion was seen only at the microscopic level and was associated with abdominal heterotaxy, atrial situs solitus, polysplenia, interrupted inferior vena cava, atrial septal defect, and atrioventricular canal. This uncommon association may be within the spectrum of polysplenia syndrome.     

Fulminant development of pulmonary arteriovenous fistulas in an infant after total cavopulmonary shunt

An infant with cyanotic congenital heart disease and polysplenia syndrome developed profound cyanosis within months of undergoing bilateral cavopulmonary anastomoses. Intrapulmonary shunting was diagnosed by contrast echocardiography with peripheral venous and selective pulmonary artery injection. Histopathology revealed abnormal, thin-walled vessels within the interstitium of the lung lobule. These vessels have not been reported previously and are likely to be the anatomic site of arteriovenous shunting. This case demonstrates that pulmonary arteriovenous fistulas (PAVFs) may develop rapidly after cavopulmonary anastomosis in young infants. It also illustrates the use of contrast echocardiography for following PAVF progression in these patients.     

Congenital extrahepatic portosystemic shunt associated with heterotaxy and polysplenia

Background

Heterotaxy with polysplenia is associated with many cardiovascular anomalies including the occasional occurrence of congenital extrahepatic portosystemic shunts (CEPS). Missing this anomaly can lead to inappropriate and ineffective therapy.

Objective

To emphasize the importance and associated anatomy of CEPS in conjunction with heterotaxy with polysplenia.

Materials and methods

Review of three young children who presented with cyanosis and pulmonary hypertension without a cardiac etiology. They were known (1) or discovered (2) to have heterotaxy with polysplenia.

Results

There was absence of the intrahepatic inferior vena cava (IVC) with azygos or hemiazygos continuation in all three cases. In spite of normal liver function, they were discovered to have large portosystemic shunts, splenorenal in location, along with diffuse peripheral pulmonary arterial dilatation suggestive of CEPS (Abernethy malformation) with hepatopulmonary or, more accurately, portopulmonary syndrome. All CEPS were ipsilateral to the spleens. Patency of the portal veins in these cases allowed for percutaneous shunt closure with resolution of cyanosis.

Conclusion

CEPS is associated with heterotaxy with polysplenia and can be symptomatic because of pulmonary arteriovenous (AV) shunting. Portal and hepatic vein patency are critical for determining feasibility of CEPS closure.     

Redirection of Hepatic Drainage for Treatment of Pulmonary Arteriovenous Malformations Following the Fontan Procedure

The development of unilateral pulmonary arteriovenous malformations in patients after total cavopulmonary connection with an extracardiac conduit has been reported. Unequal distribution of hepatic venous flow to the lung is theorized to be the causative factor. We report the surgical management of pulmonary arteriovenous malformations in a patient with heterotaxy syndrome, single ventricle, and interrupted inferior vena cava. The patient had previously undergone a total cavopulmonary connection with an extracardiac conduit draining hepatic venous flow to the right branch pulmonary artery. In the subsequent operation, we redirected the extracardiac conduit to the innominate vein. This operation provided the affected lung with hepatic venous blood without exposing the patient to the morbidity associated with cardiopulmonary bypass.     

A case of biliary atresia with cystic dilatation of the extrahepatic bile duct and polysplenia syndrome

A 79-day-old girl presented with jaundice and acholia. Laboratory findings disclosed elevated levels of bilirubin, transaminases, and gamma-glutamyl transferase. A chest X-ray film showed dextrocardia. A computed tomographic scan revealed a cystic mass at the porta hepatis, multiple spleens in the right side of the abdomen, and absence of the inferior vena cava. Under the diagnosis of biliary atresia (BA) (I-cyst) associated with polysplenia syndrome, a hepatic portojejunostomy was performed at 80 days of age. The postoperative course was uneventful, and the jaundice cleared. Although the occurrence of associated anomalies in BA is rare, polysplenia is most commonly seen, and its incidence is reported to be 2% to 10%. Patients with BA and polysplenia usually have a poor prognosis, however, this patient may have a good prognosis due to uneventful recovery from the jaundice. Accepted: 30 August 1999     

Biliary atresia and cerebellar hypoplasia in polysplenia syndrome

We report a 3.5-month-old boy with polysplenia syndrome who demonstrated hemiazygos continuation of the inferior vena cava, extrahepatic biliary atresia, multiple splenunculi, bowel malrotation, and the rare finding of brainstem and cerebellar hypoplasia. A possible pathogenesis for cerebellar hypoplasia in this syndrome is suggested after review of the literature. The importance of seeking associated anomalies in biliary atresia, which may be possible indicators of polysplenia syndrome, is stressed since these patients need appropriate management when surgery is considered.     

Polysplenia syndrome associated to neonatal hepatitis

OBJECTIVE: To report the unusual association between neonatal hepatitis and polysplenia syndrome.METHODS: Clinical, biochemical, histopathological, surgical and image analysis methods were used.RESULTS: The 36 days old patient presented hyperbilirubinemia with increase of direct reacting bilirubin and high alkaline phosphatase. The physical examination evidenced jaundice and hepatomegaly. The chest X-ray showed situs inversus and dextrocardia. Abdominal ultrasonography presented an increase in liver volume, mainly at the right lobe. There were two cystic lesions at the liver with absence of intrahepatic biliary tract dilatation. Absence of splenomegaly. Biliary scintigraphy didn't show any excretion of radioisotope to the duodenum while transoperative cholangiography presented contrast medium flowing to the duodenum lumen. During laparotomy it was possible to observe polysplenia, abdominal aorta to the right of the lower vena cava, gallbladder at the left lobe of the liver, appendix on the left side of the abdomen and sigmoid colon on the right side. The hepatic wedge biopsy was compatible with idiopathic neonatal hepatitis.CONCLUSION: The finding of polysplenia syndrome in patients with neonatal cholestasis doesn't necessarily indicate the recurrent presence of extrahepatic biliary atresia.     

Successful management of living donor liver transplantation for biliary atresia with single ventricle physiology—from peri‐transplant through total cavopulmonary connection: A case report

Children with single ventricle physiology have complete mixing of the pulmonary and systemic circulations, requiring staged procedures to achieve a separation of these circulations, or Fontan circulation. The single ventricle physiology significantly increases the risk of mortality in children undergoing non‐cardiac surgery. As liver transplantation for patients with single ventricle physiology is particularly challenging, only a few reports have been published. We herein report a case of successful LDLTx for an 8‐month‐old pediatric patient with biliary atresia, heterotaxy, and complex heart disease of single ventricle physiology. The cardiac anomalies included total anomalous pulmonary venous return type IIb, intermediate atrioventricular septal defect, tricuspid regurgitation grade III, coarctation of aorta, interrupted inferior vena cava, bilateral superior vena cava, and polysplenia syndrome. Following LDLTx, the patient sequentially underwent total cavopulmonary shunt + Damus‐Kaye‐Stansel at 3 years of age and extracardiac total cavopulmonary connection (EC‐TCPC) completion at 5 years of age; 7 years have now passed since LDLTx (2 years post–EC‐TCPC). We describe the details of the management of LTx in the presence of cardiac anomalies and report the long‐term cardiac and liver function, from peri‐LDLTx through EC‐TCPC completion.     

Redirection of the Hepatic Venous Flow for the Treatment of Pulmonary Arteriovenous Malformations after Fontan Operation

A 45-month-old boy who had complex cardiac anomalies with interrupted inferior vena cava and polysplenia underwent extracardiac Fontan operation. He redeveloped deep cyanosis postoperatively. Cardiac catheterization showed a preferential flow of the hepatic venous blood to the right lung and arteriovenous malformations (PAVMs) in the left lung. He underwent revision of the conduit to attain balanced hepatic venous drainage with subsequent regression of the PAVMs and disappearance of cyanosis. Our experience shows that deficiency of hepatic venous flow played a crucial role in the development of PAVMs and that redistribution of the flow retained potential to ameliorate the pathological condition.     

Scimitar Syndrome associated with partial anomalous pulmonary venous draining into superior vena cava

Scimitar syndrome is a rare congenital cardiopulmonary malformation characterized by hypoplasia of the right lung and drainage of the right pulmonary veins into the vena cava inferior. It may also be associated with cardiac dextroversion and anomalies of the tracheobronchial system, cardiovascular system, and diaphragm. Some cases are asymptomatic with others diagnosed in early-childhood period with pulmonary hypoplasia and other associated malformations. We present here a patient whose venous return of the middle and lower lobes of the right lung is into the superior vena cava, which is a very unusual finding for this disorder.     

Catheter-Based Closure of an Atrial Septal Defect in Scimitar Syndrome

We report a patient with abnormal systemic blood supply to the right lung and right-sided anomalous pulmonary venous drainage to the inferior vena cava (scimitar syndrome or pulmonary venolobar syndrome). In addition, she had an atrial septal defect, underdeveloped right pulmonary artery, an aberrant right bronchus, and tracheobronchomalacia. She improved markedly after palliative interventional closure of her atrial septal defect.     

Polysplenia syndrome with hepatic artery of superior mesenteric artery origin and a circumaortic renal vein

An 8 1/2-month-old girl with biliary atresia and polysplenia syndrome having multiple vascular anomalies without cardiac anomalies is reported. Interruption of the inferior vena cava with azygous continuation, which is a common anomaly, was seen in conjunction with origin of the common hepatic artery from the superior mesenteric artery and with a circumaortic renal vein. The case has particular importance in that no hepatic artery or renal vein variations have been described with biliary atresia and polysplenia syndrome in the literature thus far to our knowledge. The anomalies were shown using different radiological examinations including computed tomography, echocardiography, angiography, venography and magnetic resonance imaging.     

Angiography of azygos continuation of inferior vena cava in situs ambiguus with left isomerism (polysplenia syndrome)

Summary We have in our records 11 patients with situs ambiguus and left isomerism (polysplenia). Ten had an interruption of the inferior vena cava (IVC) with azygos continuation; in eight cases the continuation was to the left superior vena cava (LSVC), in one case to the right superior vena cava (RSVC) and in one case to both the LSVC and RSVC. Two patients underwent surgical correction by a baffle procedure of the functioning single atrium. The angiographic confirmation of the azygos system anatomy is important in planning the surgical correction of patients with left isomerism. Clinically, given the same heart defects with normal pressures, the right-sided drainage is probably more favorable, producing less peripheral desaturation.     

Scimitar syndrome associated with partial anomalous pulmonary venous connection at the supracardiac,cardiac, and infracardiac levels

Summary A 1-year-old female child was diagnosed to have scimitar syndrome associated with partial anomalous pulmonary venous connection of the right lung at the superior vena cava-right atrial junction, right atrium, and inferior vena cava. To our knowledge, this pattern of pulmonary venous connection has not been previously described in this syndrome.     

Multiple Intrapulmonary Arteriovenous Fistulas in Childhood

Pulmonary arteriovenous fistulas (AVFs) are a rare but recognized cause of cyanosis in childhood. Lesions may be acquired as in hepatopulmonary syndrome or they may be congenital, particularly in association with certain multisystem disorders. Large fistulas are more common than multiple small connections. Two cases, both boys, presenting in the first decade of life are described. ``Bubble' echocardiography was the most telling investigation and strongly suggested the presence of AVFs in both cases. Each patient then underwent cardiac catheterization, which demonstrated normal pulmonary artery pressure and diffuse pulmonary telangiectasis. Both patients were treated effectively with nifedipine and continue with this mode of therapy.     

Scimitar variant

Summary In the classic scimitar syndrome, a pulmonary vein draining all or part of the right lung enters the inferior vena cava. A variant is described with the same roentgenographic appearance, but with drainage of the anomalous pulmonary vein into both the inferior vena cava and the left atrium; the atrial septum was intact. This case, together with six others reported elsewhere, reminds us that the scimitar sign has both false positives and false negatives. Therefore, the diagnosis of scimitar syndrome cannot be made with certainty from a plain x-ray film.     

Venous and Intrapericardial Thrombosis

We present a 2-month-old male infant with thrombosis in the superior vena cava and pericardium due to transient protein C deficiency. Protein C deficiency was related to sepsis and hepatitis-induced liver function impairment. The patient’s cardiac anatomy was otherwise normal. The patient was referred to us with signs of superior vena cava syndrome. Pericardial mass was excised. Pathological examination diagnosed the mass as organized thrombus. After the operation, signs of superior vena cava syndrome totally resolved. Serial echocardiographic examinations revealed regression of thrombus in the superior vena cava. This is the first case reported in the literature with intrapericardial thrombus secondary to transient protein C deficiency.     

Partial abnormal pulmonary venous return in Turner syndrome

Three cases of partial anomalous pulmonary venous return, in one case combined with coarctation of the aorta and in another with discrete subaortic stenosis, are described in patients with Turner syndrome. In two of them the right and left superior pulmonary veins drained into the right superior vena cava and left innominate vein respectively. Remarkably, in all three cases the atrial septum was intact. We feel that this unique combination probably is not purely coincidental, but might rather be specific for Turner syndrome.Abbreviations AI aortic insufficiency - ASD atrial septal defect - PAPVR partial abnormal pulmonary venous return - SVC superior vena cava     

Anastomosis of systemic veins to pulmonary arteries for physiologic repair of asplenia syndrome

In a patient with single ventricle, mitral atresia, common atrium, pulmonary stenosis, azygos continuation of the inferior vena cava and bilateral systemic artery--pulmonary artery anastomoses, the systemic veins were connected directly to the pulmonary arteries to achieve physiologic repair; the child was discharged five days after surgery and is asymptomatic three years postoperatively. This case illustrates the usefulness of azygos continuation of the inferior vena cava and emphasizes the need for low pulmonary artery pressure when a cavopulmonary anastomosis is done.