title: 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.
authors.affiliation: Department of Endocrinology, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, P.R. China.
authors.forename: Yabin
authors.initials: Y
authors.lastname: Hao
authors.affiliation: Department of Endocrinology, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, P.R. China.
authors.forename: Xu
authors.initials: X
authors.lastname: Hong
authors.affiliation: Department of Hepatology, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, P.R. China.
authors.forename: Xinyan
authors.initials: X
authors.lastname: Zhao
keywords: focal nodular hyperplasia; portal vein; portosystemic shunt; ventricular septal defect