RBM20 mutations cause arrhythmogenic dilated cardiomyopathy via disturbed calcium handling, suggesting a potential therapeutic role for L-type calcium channel blockers.
RBM20 carriers may need enhanced arrhythmia monitoring despite similar LV function; leaves open calcium channel blockade as targeted therapy.
We show that loss of Rbm20 disturbs Ca²⁺ handling and leads to more proarrhythmic Ca²⁺ releases from the sarcoplasmic reticulum. Patients that carry a pathogenic RBM20 mutation have more ventricular arrhythmias despite a similar left ventricular function, in comparison with patients with a TTN mutation. Our experimental data suggest that RBM20 mutation carriers may benefit from treatment with an ICa,L blocker to reduce their arrhythmia burden.
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Hoogenhof et al. (2018) studied this question.
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