Index of Case Report: Volume 1: Issue 1
Department of Cardiac Surgery, La Rabta Hospital, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunisia.
Correspondence: Dr. Mleyhi Sobhi, Department of Cardiovascular and Thoracic Surgery, La Rabta Hospital, Jebbari Street 1007 Tunis
Tel: (00 216) 58 73 83 61
Introduction: “Abernethy syndrome” is a rare congenital vascular defect defined by diverting portal blood away from the liver. It is often associated with multiple congenital abnormalities. We present a case of Abernethy malformation associated with diffuse pulmonary arteriovenous fistulas.
Case Report: A 16-year-old girl was presented with medical history of cyanosis and dyspnea since the age of 6 years. Clinical exam showed conjunctival jaundice with digital hippocratism, a 15 cm hepatomegaly and spontaneous arterial oxygen saturation of 65%. Hemodynamic constants were normal. Transthoracic Doppler echocardiography showed a left superior vena cava discharging into the right atrium, agenesis of the innominate trunk and several pulmonary arteriovenous fistulas (AVF). The thoracoabdominal angioscanner confirmed the presence of multiple pulmonary AVFs predominant in the bases (Fig 1) associated with a porto-cava congenital shunt (Fig 2). Given these finding, we retain the diagnosis of Abernethy’s malformation. The curative treatment remains the liver transplantation to make the pulmonary AVFs disappear, which will enhance the arterial oxygen saturation decreasing the related symptoms.
ABERNETHY’S REPORT in 1793 [1,2] was based on a postmortem examination performed on a10-month old female infant, who died of unknown cause. Morgan and Superina [3,4] classified congenital extrahepatic portosystemic shunt (CEPSh) into two types:
*Type I is characterized by a portal vein that joins the inferior vena cava (IVC) in an end-to- side fashion, leading to a complete diversion of portal venous blood into the IVC. Type I malformation may be further subclassified into Ia and Ib, defined as the superior mesenteric and splenic veins draining into the IVC separately (Ia) or from a common trunk (Ib).
*Type II malformation, which is less common, consists of a side-to-side connection between the portal vein and the IVC, so that there is still partial venous blood supplying the liver via a hypoplastic portal vein.
Abernethy malformation remains a rare diagnosis with a predominance of type 1 . Abnormalities of the portal vein, including Abernethy syndrome type 1, affect girls in 74 % of cases [6-8]. However, cases of Abernethy syndrome type 1 have been found in males and vice versa . The age of discovery of Abernethy syndrome is very variable: from 28 weeks of amenorrhea to 76 years [6,10]. The diagnosis is made in childhood in 80 % of cases [11,12] and it is often fortuitous but can be guided by several associated defects :most cases of type I malformation are associated with other congenital anomalies, including cardiac anomalies, duodenal and biliary atresia, polysplenia and situs inversus, [6,8,13] . Later, hepato-pulmonary syndrome, encephalopathy ,other lesions like nodular regenerative hyperplasia, partial nodular transformation, hepatoblastoma, hepatocellular carcinoma and adenoma can develop [2,15-18].
Biological abnormalities such as galactosemia, [19,20] neonatal cholestasis  and hyperammonemia  are also suggestive of a portosystemic shunt.
In type II malformation, because there is still portal venous blood draining into liver, the clinical presentations would be milder than type I. Subclinical course is more common and some patients might not have any symptoms throughout life [22,23].
The diagnosis of Abernethy malformation is made by non-invasive cross-sectional imaging techniques such as ultrasound, CT or MRI, which show the shunt and any intrahepatic portal vein branches .
In our case, in addition to porto-systemic shunt, computed tomography reveals diffuse pulmonary arterio-venous fistula.
Several therapeutic options can be discussed .Typing the shunt is essential before any intervention . In case of asymptomatic shunt without associated hepato-pulmonary syndrome or encephalopathy. According to Tercier and al, the asymptomatic shunt can regress: it therefore recommends a therapeutic abstention until the age of 2 years . In Abernethy type 1 syndromes, liver transplantation appears to be the only option given the absence of an intra-hepatic portal pathway . The reported transplants were justified by the presence of hepatoblastoma, cirrhosis, encephalopathy or hepatopulmonary syndrome [26-29] but it is necessary to point out a 30 % mortality [30,31]. The other therapeutic option remains a closure . This option cannot be used if the intrahepatic portal system is too hypoplastic or if there is an associated abnormality of hepatic veins . Schematically, the action to be taken proposed by Yagi and al is the following : if the shunt is small with little hypoplastic portal vascularization: coil embolization. If the shunt is large with little hypoplastic vascularization: partial or total surgical ligation with intra-operative monitoring of portal-mesenteric pressure which should not exceed 20 mmhg. If there is liver damage or there is an increase in portal pressure after ligation, consider liver transplantation.
The diagnosis of porto-systemic shunts can be missed or significantly delayed due to lack of resources need for the diagnosis, including availability of trained ultra-sonologists. The treatment of patients with congenital porto-systemic shunts depends on the location of the shunt, the associated congenital abnormalities and the extention of the liver damage, but the prognosis depends on the complications, whatever the anatomical presentation. Whenever possible, the closure of the shunt should be done to cure or prevent these complications. Only symptomatic patients with no ability to close the shunt may require a liver transplant.
No conflict of interest
 Ashish Pathak1,2*, Nitin Agarwal3, Jagdish Mandliya1, Prateek Gehlot4 and Mamta Dhaneria1, Abernethy malformation: a case report, Pathak et al. BMC Pediatrics 2012, 12:57 http://www.biomedcentral.com/1471-2431/12/57
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Review Status: Pending