EC Paediatrics

Dilated cardiomyopathy (DCM) in neonates is a rare condition with a broad differential diagnosis, including genetic etiologies. Familial forms of DCM are genetically heterogeneous, recent studies have implicated variants in RPL3L gene, encoding a ribosomal protein, in severe neonatal DCM. We report a case of fulminant heart failure with rapidly progressive neonatal dilated cardiomyopathy and multimodal support, associated with bi-allelic RPL3L variants.

 Keywords: Dilated Cardiomyopathy; RPL3L Gene; Genetic Testing; Neonatal Heart Failure; Heart Transplantation

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