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.

Congenital absence of the portal vein complicated by hepatocellular carcinoma in the liver of an adult woman: review of imaging, literature and management

“…There are currently 101 reported cases of CAPV. Of the reported cases, 66% of patients are females and about 70% had been diagnosed by age of 18 years; < 10% were associated with a type 2 malformation [4] . This patient presented to our institution to undergo liver transplant evaluation.…”

“…Long-term prognosis depends on the control of hepatic dysfunction and metabolic irregularities. Forty-six cases have been reported to be associated with a congenital anomaly, of which 16 were congenital cardiac disease [4] . Congenital cardiac disease typically seen with CAPV includes: patent foramen ovale, patent ductus arteriosus, ventral septal defects, and atrial septal defects [1] .…”

“…Most patients presented with encephalopathy, hepatopulmonary syndrome, or hepatorenal syndrome. Almost half of cases have liver masses at presentation such as focal nodular hyperplasia (FNH), adenomas, hepatoblastoma, or hepatocellular carcinoma (HCC) [4] . In 1994, Morgan and Superina [5] proposed a classification of portosystemic anomalies.…”

Abernethy malformation type I (congenital absence of the portal vein) in a patient with chronic kidney disease

“…In this malformation, splanchnic venous blood partially or completely bypasses the liver and drains directly into the inferior vena cava or to the left renal vein as a result of the congenital absence of the portal vein or the hypoplastic portal vein. 1 The CAPV is frequently associated with other congenital cardiac, gastrointestinal, genitourinary, or skeletal defects. The lack of portal flow can result in the development of nodular regenerative hyperplasia or hepatocellular adenoma, rarely hepatocellular carcinoma or hepatoblastoma.…”

Ausencia Congénita de la Vena Porta Hepática Asociada a Malrotación Intestinal y a Vena Cava Inferior Izquierda: Reporte de Caso

“…Hasta 2010 se habían reportado sólo 84 casos (Mistinova et al, 2010), sus edades han fluctuado entre recién nacido y 64 años, afectando principalmente a mujeres (65 %) con un alto índice de morbimortalidad por falla hepática (Mistinova et al). Un reciente reporte de Hao et al (2015), eleva esta cifra a 101 ca- …”