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Genetic Tests Lead to Potential Prognostic Variants in Dutch Children With Dilated Cardiomyopathy

In the journal Circulation: Genomic and Precision Medicine, a team led by researchers at the Erasmus MC and the University of Groningen explore genetic testing outcomes and implications in pediatric dilated cardiomyopathy (DCM) in children referred by hospitals in the Netherlands. Starting with data for 144 children diagnosed with various forms of DCM — including 107 patients who had genetic testing with array-based genotyping, targeted sequencing, genome sequencing, and other approaches — the investigators flagged pathogenic or likely pathogenic variants in more than three dozen pediatric DCM patients. Among the most frequently altered genes was MYH7, which was altered in eight cases, and cases involving a pathogenic or likely pathogenic variant in general appeared to be at increased risk of death or an enhanced risk of transplantation. "Genetic testing is a valuable tool for predicting prognosis in children with dilated cardiomyopathy, with carriers of a likely pathogenic or pathogenic variant having a worse prognosis overall," the authors report. "Genetic testing should be incorporated in clinical work up of all children with dilated cardiomyopathy regardless of presumed disease pathogenesis."