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High Burden of Ventricular Arrhythmias and Cardiac Conduction Disease in Pediatric Patients with Pathogenic Desmin (DES) Variants
2025-10-03
cardiovascular medicine
Title + abstract only
View on medRxiv
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BackgroundPathogenic 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 aspects in the pediatric population. MethodsWe conducted a systematic review and individual patient data meta-analysis...
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