The haemodynamic changes in patients with Fontan circulation with reduced cardiac output, chronic venous hypertension, and alterations in subdiaphragmatic venous flow pre-dispose for the development of Fontan-associated liver disease. This process is initiated by hepatic congestion with the potential for progression to liver cirrhosis, portal hypertension, and the risk of hepatocellular carcinoma.^{Reference Ghaferi and Hutchins1–Reference Gordon-Walker, Bove and Veldtman3}

As the incidence of these complications increases with duration of follow-up, regular hepatic surveillance is recommended. Clinical examination is completed by blood chemistry, ultrasound at least annually, and CT or MRI depending on severity of Fontan-associated liver disease.^{Reference Kim, Yang, Jang, Yoo, Khalili and Kim4} Patients with compensated cirrhosis are generally asymptomatic; abnormal liver function test, jaundice, ascites, or variceal bleeding indicate decompensated liver disease.

Portal vein thrombosis is a relatively common complication in advanced cirrhosis but has not been mentioned in the context of Fontan-associated liver disease. The risk of portal vein thrombosis has been observed to increase with the severity of liver disease as previously described in 7–16% of patients with advanced non-cardiac cirrhosis and as a possible “surrogate marker for worsening portal hypertension”.^{Reference Harding, Perera, Chen, Olliff and Tripathi5}

We report the previously undescribed case of a 25-year-old female with double inlet left ventricle and transposition of the great arteries, initially palliated with modified Blalock–Taussig shunt, undergoing modified Fontan surgery with a fenestrated lateral tunnel at the age of 2.5 years.

Post-operative haemodynamics at age of 18 years revealed a mean pulmonary artery pressure of 8 mmHg, left ventricular end-diastolic pressure of 3 mmHg, but effort intolerance on cardiopulmonary exercise test. Abdominal sonography described heterogeneous echogenicity of the liver with nodular surface, no splenomegaly, antegrade portal vein flow (28 cm/s). Liver enzymes were mildly elevated with further increase predominantly of gamma-glutamyl transpeptidase during the following years in the presence of normal synthetic function.

The patient remained asymptomatic with stable albeit reduced exercise capacity, and without abdominal pain or ascites. She continued on acetylsalicyclic acid but she was not treated with medical heart failure therapy.

Doppler ultrasonography demonstrated absent portal vein flow with cavernous malformation as an incidental finding during follow-up in the presence of stable spleen measurements and without ascites. CT confirmed the sonographic finding of inhomogenous enhancement in the liver and multiple nodular lesions, absent portal vein flow with cavernous transformation, and portosystemic collateral vessel draining into the left-sided renal vein (Fig 1).

Figure 1.

Axial CT image demonstrating multiple nodular hepatic lesions (black arrows). Enlarged collateral vessel draining into the left-sided renal vein (white arrowhead).

Cardiac catheterisation at age of 22 years had demonstrated mean pulmonary artery pressure of 14 mmHg, transpulmonary gradient of 5–6 mmHg, RPI 1,2 WE*m², and arterial oxygen saturation of 89%. The angiography showed a veno-venous collateral vessel to the right upper pulmonary vein; the retrograde hepatic vein wedge angiography demonstrated only the right-sided portal vein branch, no left-sided portal vein branch (Fig 2). Recent blood tests revealed normal synthetic function, normal transaminases, stable gamma-glutamyl transpeptidase elevation (770U/l), no leucopenia, thrombocytopenia, or hyperbilirubinemia; oesophageal varices had been excluded by endoscopy.

Figure 2.

(a) Right-sided hepatic vein wedge angiography revealed right portal vein branch (nearly 6 mm) (black arrow) and (b) left-sided hepatic vein wedge angiography could not demonstrate the left-sided portal vein branch