Congenital absence of the portal vein associated with focal nodular hyperplasia of the liver and congenital heart disease (Abernethy malformation): A case report and literature review

Abstract

Abernethy malformation is a rare congenital malformation defined by an extrahepatic portosystemic shunt. The majority of affected patients are young (<18 years of age) and experience various symptoms, including vomiting, jaundice, dyspnea and coma. The current study presents a case of Abernethy malformation in an asymptomatic adult male patient. The patient exhibited congenital absence of the portal vein, congenital heart disease (postoperative ventricular septal defect status), and multiple liver lesions, confirmed to be focal nodular hyperplasia by biopsy. Ultrasonography and magnetic resonance imaging findings revealing the liver lesions, type II congenital absence of the portal vein and the portosystemic shunt are presented. In addition, the common clinical presentations, associated anomalies, diagnostic workup and treatment options of this disorder are investigated by reviewing 101 previously reported cases.

Keywords: focal nodular hyperplasia; portal vein; portosystemic shunt; ventricular septal defect.

Figure 1

Abdominal magnetic resonance image showing the slender portal vein, rich arterial blood supply and hepatic mass lesion. HA, hepatic artery; PV, portal vein; HNL, hepatic nodular lesion.

Figure 2

(A) Immunohistochemical staining for CD34 in biopsy specimen from the liver nodule showed hyperplasia of arterioles. (B) Periodic acid-Schiff diastase staining revealed thick-walled arterioles. (C) Reticular silver staining showed hydropic degeneration of hepatocytes; fibrosis in the portal area and was confirmed to be a focal nodular hyperplasia.