Ebstein cardiac anomaly functional pulmonary atresia and isovaleric acidemia: A case report

摘要

In this report, we present a rare association between Ebstein anomaly (EA) and isovaleric acidemia (IVA) in a newborn who was admitted to our cardiac center. He underwent for PDA stenting to maintain adequate pulmonary blood flow, later he developed recurrent metabolic acidosis, prominent sweaty feet odor, neutropenia and thrombocytopenia. His organic acids profile in the urine confirmed the diagnosis of IVA.To the best of our knowledge, there is no association between these two rare diseases. We are presenting this case report to highlight this rare association.