Factores condicionantes de la variabilidad fenotípica de los síndromes arritmogénicos hereditariosanálisis funcional de mutaciones asociadas a los síndromes de Brugada y de QT largo

Abstract

Brugada (BrS) and long QT (LQTS) syndromes are the two most prevalent inherited arrhythmia syndromes (IAS). In both cases, the expressivity and the penetrance of these syndromes are very variable among mutant carriers and depend on demographic factors. Increasing evidence suggests that variants ingenes that have not yet been related to such syndromes, which produce a large or small functional impact, modulate the penetrance and expressivity of IAS.Therefore, the MAIN OBJECTIVE of this DOCTORAL THESIS is to functionally analyze the electrophysiological and molecular consequences of the variants found in three Spanish families with IAS to elucidate their possible role as responsible for or modifiers of the expressivity and penetrance of the IAS in the patients carrying those mutations...