Alexandra Pérez-Serra, Rocío Toro, Estefanía Martinez-Barrios, Anna Iglesias, Anna Fernandez-Falgueras, Mireia Alcalde, Mónica Coll, Marta Puigmulé, Bernat Del Olmo, Ferran Picó, Laura Lopez, Elena Arbelo, Sergi Cesar, Coloma Tiron de Llano, Alipio Mangas, Josep Brugada, Georgia Sarquella-Brugada, Ramon Brugada, Oscar Campuzano
Dilated cardiomyopathy is a heterogeneous entity that leads to heart failure and malignant arrhythmias. Nearly 50% of cases are inherited; therefore, genetic analysis is crucial to unravel the cause and for the early identification of carriers at risk. A large number of variants remain classified as ambiguous, impeding an actionable clinical translation. Our goal was to perform a comprehensive update of variants previously classified with an ambiguous role, applying a new algorithm of already available tools...
March 29, 2024: International Journal of Molecular Sciences