Fontan-Associated Liver Disease: A Novel Strategy to Assess Hepatic Reserve.

Abstract

BACKGROUND: Evaluating Fontan-associated liver disease (FALD) remains challenging, as elastography reflects passive congestion and standard biochemistry often remains normal. We explore transient hepatic metabolic reserve exhaustion during hemodynamic and dietary stress. CASE SUMMARY: An asymptomatic 10-year-old boy who had undergone Fontan completion presented for routine evaluation coinciding with an unusually large mixed meal. Dried blood spot amino acid profiling by liquid chromatography-tandem mass spectrometry revealed marked hypercitrullinemia (188.9 μmol/L) with elevated ornithine and arginine, whereas shear-wave elastography peaked at 18.1 kPa and systemic ventricular ejection fraction transiently fell to 52%; standard liver biochemistry remained normal. Amino acids normalized within 5 days, with partial recovery of liver stiffness and ejection fraction at 3-month follow-up. DISCUSSION: Hemodynamic impairment combined with acute dietary stress can transiently exhaust hepatic metabolic reserve before conventional biochemical tests turn abnormal. TAKE-HOME MESSAGE: Dried blood spot amino acid profiling is a promising noninvasive tool to unmask subclinical metabolic reserve exhaustion in Fontan-associated liver disease when standard liver enzymes are normal.

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