July 28, 2025

The contribution of RBM20 truncating variants to human cardiomyopathy

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RBM20 truncating variants are associated with a modest contribution to arrhythmogenic dilated cardiomyopathy.
Patients with truncating RBM20 variants are diagnosed later in life compared to those with missense variants.
Lifetime incidence of heart failure or major arrhythmia is lower for patients with RBM20 truncating variants.
Truncating variants confer milder disease severity alone, compared to pathogenic missense variants, indicating important genetic interactions.

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Assessment shows truncating variants of RBM20 are linked to milder dilated cardiomyopathy and reduced disease severity.

Floyd et al. (2025) studied this question.

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