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Sudden Cardiac Death In Young Adults With Long-Chain 3-Hydroxyacyl Coa Dehydrogenase Deficiency (Lchadd), Ajesh Saini
Sudden Cardiac Death In Young Adults With Long-Chain 3-Hydroxyacyl Coa Dehydrogenase Deficiency (Lchadd), Ajesh Saini
University Honors Theses
Long-chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency (LCHADD) is an autosomal recessive defect in fatty acid oxidation that presents with hypoketotic hypoglycemia and/or hypertrophic cardiomyopathy in infancy, and recurrent rhabdomyolysis in adolescence, however, sudden cardiac death has not been a previously reported complication of LCHADD. We have conducted a case review study comparing young adult LCHADD patients who have experienced sudden cardiac arrest events (n=5) to similar patients who have not (n=5) for the purpose of evaluating associated cardiac risk factors. We reviewed medical records from ECG tests, hospitalization reports, acylcarnitine, and complete metabolic panels, clinic notes, and autopsy reports. Retrospective chart …