Case Report: A Rare Syncope Case Caused by Abernethy II and a Review of the Literature

Abstract

Background: Abernethy malformation is an extremely rare anomaly of the splanchnic venous system, and only 2 cases that manifested as syncope had been reported previously.Case Presentation: A 24-year-old male had a 15-year history of jaundice and was in long-term use of hepatoprotective drugs. He was admitted for complaint of syncope. He underwent a series of examinations and cardiac ultrasound showed that his pulmonary artery pressure was elevated. Further imaging revealed the absence of intrahepatic portal veins. His blood ammonia was significantly increased. All signs and symptoms pointed to an Abernethy diagnosis. He was finally diagnosed as having Abernethy type II. He was discharged after 17 days of in-hospital treatment with sildenafil (50 mg/day) and ornithine aspartate (20 g/day).Conclusion: We now report this rare case of syncope that is caused by Abernethy malformation. As a typically pediatric disease, it was not identified in this patient until adulthood due to long-term treatment for jaundice and liver cirrhosis. Furthermore, we present a review of portosystemic shunts previously reported in the literature.

Rare portal hypertension caused by Abernethy malformation (Type IIC): A case report

“…Patients may be asymptomatic or present with nonspecific symptoms, such as hypergalactosemia, hyperbilirubinemia, and hyperammonemia, due to delayed metabolism of these metabolites in the liver or their metabolism outside of the liver[ 5 , 6 ]. Abernethy malformation may also cause pulmonary venous congestion, leading to hepatopulmonary syndrome, which manifests as dyspnea caused by pulmonary hypertension and even syncope[ 7 ]. In addition, Abernethy malformation can be complicated by multiple malformations[ 2 ], such as congenital heart disease, skeletal muscle system malformations, and polysplenia.…”

A rare Abernethy Ib malformation was initially misdiagnosed as chronic portal vein thrombosis in a 27-year-old female

“…Patients may be asymptomatic or present with nonspecific symptoms such as hypergalactosemia, hyperbilirubinemia, and hyperammonemia due to delayed hepatic metabolism of these metabolites as they bypass the liver in the first instance [ 5 , 6 ]. Pulmonary venous congestion results in hepatopulmonary syndrome, presenting clinically with dyspnea due to pulmonary hypertension and even syncope [7] . Hepatic encephalopathy may develop in longstanding cases, clinically manifesting with tremors, extrapyramidal symptoms, irritability, and altered sensorium.…”