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

Te Riele, Anneline S. J. M; Agullo Pascual, Esperanza; James, Cynthia A; Leo Macias, Alejandra; Cerrone, Marina; Zhang, Mingliang; Lin, Xianming; Lin, Bin; Sobreira, Nara L; Amat Alarcon, Nuria; Marsman, Roos F; Murray, Brittney; Tichnell, Crystal; Van Der Heijden, Jeroen F; Dooijes, Dennis; Van Veen, Toon A. B; Tandri, Harikrishna; Fowler, Steven J; Hauer, Richard N. W; Tomaselli, Gordon; Van Den Berg, Maarten P; Taylor, Matthew R. G; Brun, Francesca; Sinagra, Gianfranco; Wilde, Arthur A. M; Mestroni, Luisa; Bezzina, Connie R; Calkins, Hugh; Peter Van Tintelen, J; Lei, Bu; Delmar, Mario; Judge, Daniel P.

doi:10.1093/cvr/cvw234

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 Nav1.5. We aimed to determine the prevalence and biophysical properties of mutations in SCN5A (the gene encoding Nav1.5) in ARVD/C.

Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis / Te Riele, A.S.J.M., Agullo Pascual, E., James, C.A., Leo Macias, A., Cerrone, M., Zhang, M., Lin, X., Lin, B., Sobreira, N.L., Amat Alarcon, N., Marsman, R.F., Murray, B., Tichnell, C., van der Heijden, J.F., Dooijes, D., van Veen, T.A.B., Tandri, H., Fowler, S.J., Hauer, R.N.W., Tomaselli, G., et al.. - In: CARDIOVASCULAR RESEARCH. - ISSN 0008-6363. - STAMPA. - 113:1(2017), pp. 102-111. [10.1093/cvr/cvw234]