Why the study?
Pathogenic variants in RBM20 are linked to an increased risk of sudden cardiac death in dilated cardiomyopathy, but specific guidelines for managing RBM20 carriers are lacking.
The RBM20 p.Arg636Cys variant is associated with a high risk of sudden cardiac death even in patients with mild dilated cardiomyopathy phenotypes, suggesting a need for careful evaluation for ICD implantation.
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RBM20-related DCM may heighten SCD vigilance in carriers; leaves open dedicated guidelines pending larger cohorts.
Lorca et al. (2025) studied this question.
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