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; Bu, Lei; Delmar, Mario; Judge, Daniel P.

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

altro

Judge, Daniel P.

2017

journal article

Periodico

CARDIOVASCULAR RESEARCH

Abstract

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.