The Phenotype and Outcome of Infantile Cardiomyopathy Caused by a Homozygous <b><i>ELAC2</i></b> Mutation

Abstract

Our study suggests screening the ELAC2 gene in severe infantile-onset HCM or DCM of unknown etiology, especially in the presence of pericardial effusion. Our work demonstrates a universally poor outcome of the (p.Phe154Leu) variant in ELAC2 gene; a correlation that helps in counseling parents and in planning appropriate medical intervention.