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Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) is often associated with desmosomal mutations. Recent studies suggest an interaction between the desmosome and sodium channel protein Na v 1.5. We aimed to determine the prevalence and biophysical properties of mutations in SCN5A (the gene encoding Na v 1.5) in ARVD/C.

cardiovascular research

Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis