Abernethy Malformation: Possible Diagnosis for Patients with Congenital Heart Disease and Persistent Cyanosis

Braz J Cardiovasc Surg. 2023 Apr 23;38(2):300-304. doi: 10.21470/1678-9741-2022-0110.

Abstract

Clinical data: Infant, nine months of age, female, diagnosed with congenital heart disease, with signs of heart failure associated with cyanosis and difficulty in gaining weight.

Chest radiography: Cardiomegaly with prevalence of pulmonary vascular network.

Electrocardiogram: Ectopic atrial rhythm with right ventricular overload and left anterosuperior divisional block.

Echocardiogram: Single atrium with absent interatrial septum, atrioventricular connection with a single valve and two orifices, with increased pulmonary pressure and high Qp/Qs.

Computed tomography: Absence of portal vein and intrahepatic segment of the inferior vena cava. Infrahepatic portion continuing with the azygos system at the level of the thoracic cavity, presence of mesenteric-caval communication associated with signs suggestive of hepatic peribiliary fibrosis.

Diagnosis: Abernethy malformation is a rare condition and represents an extrahepatic portosystemic shunt that develops between the mesenteric-portal vasculature and the systemic veins. It may be associated with cardiac malformations and advance with pulmonary hypertension and even the need for liver transplantation. Persistent cyanosis after corrective surgery led to a deeper investigation and correct diagnosis of this malformation.

Operation: Sternotomy with 68 minutes of cardiopulmonary bypass and nine minutes of total circulatory arrest. In the postoperative period, persistence of cyanosis was evident, even though there were no immediate complications. Patient was discharged on the 10th postoperative day. An abdominal computed tomography angiography confirmed the diagnosis of Abernethy type I malformation, and the patient was transferred for liver transplantation after congenital heart disease treatment.

Keywords: Cardiomegaly; Computed Tomography Angiography; Congenital Heart Defects; Cyanosis; Hepatopulmonary Syndrome.

MeSH terms

  • Computed Tomography Angiography
  • Cyanosis / complications
  • Female
  • Heart Defects, Congenital* / complications
  • Heart Defects, Congenital* / diagnostic imaging
  • Heart Defects, Congenital* / surgery
  • Humans
  • Infant
  • Portal Vein / abnormalities
  • Portal Vein / diagnostic imaging
  • Vascular Malformations* / diagnosis
  • Vascular Malformations* / diagnostic imaging
  • Vena Cava, Inferior / diagnostic imaging