Article

High Burden of Ventricular Arrhythmias and Cardiac Conduction Disease in Pediatric Patients with Pathogenic Desmin (<i>DES</i>) Variants

2025-10-03

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Pathogenic variants in the desmin gene ( DES ) are implicated in diverse cardiomyopathy and skeletal myopathy phentoypes with high rates of major adverse cardiac events (MACE). Although pediatric cases have been reported, the genetic profile, clinical features and outcomes in affected children remain poorly defined. This study aimed to comprehensively characterize these aspe...

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Literature Corpus work: 94691d89-0a97-5e8f-bb3c-c92a3d5bd462
DOI: 10.1101/2025.09.29.25336933

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