Key result
Advanced ARVC with PKP2 variant presents as sudden cardiac arrest in adolescent MCAD deficiency.
Case Report (n=1)
The co-occurrence of MCAD deficiency and early-onset, severe ARVC suggests a potential shared metabolic and cellular pathophysiology involving intracellular lipid metabolism and the Wnt/β-catenin pathway.
May warrant arrhythmia vigilance in pediatric MCAD deficiency; hypothesis-generating for shared metabolic-ARVC pathways.
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency, the most common inherited disorder of fatty acid metabolism, is caused by variants in the ACADM gene located on chromosome 1p31. Pathologically low levels of this enzyme impair the use of fatty acids for ketogenesis and gluconeogenesis – particularly important for energy production during fasting or catabolic stress – as well as lead to accumulation of toxic metabolites that disrupt the urea cycle.1-2 In turn, patients with MCAD deficiency are at risk for metabolic crises during catabolic states, manifesting as severe hypoglycemia, hyperammonemia, emesis, lethargy, encephalopathy, seizures, respiratory arrest, or even sudden death.
No takes yet. Share an insight, caveat, or question.
Lin et al. (2026) conducted a case report in Medium chain acyl-CoA dehydrogenase (MCAD) deficiency and Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) (n=1). Co-occurrence of MCAD deficiency and ARVC was evaluated. A 13-year-old male with well-managed MCAD deficiency experienced sudden cardiac arrest and was found to have highly-advanced arrhythmogenic right ventricular cardiomyopathy with a PKP2 variant.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: