P016: Acute arrhythmias in a long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) mouse model

People with long-chain fatty acid oxidation disorders (LC-FAODs), such as LCHADD (OMIM 609016), frequently present dilated or hypertrophic cardiomyopathy and can suffer life-threatening arrhythmias. LCHADD is caused by a missense pathogenic variant, c.1528G>C, of the HADHA gene encoding the alpha subunit of the mitochondrial trifunctional protein. In a recent retrospective analysis, we reported an increased incidence of major cardiac involvement in adolescent and young adults with LCHADD where heart failure and life-threatening arrhythmias remain the leading cause of mortality.