RT Journal Article
T1 Malignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approach
A1 Jordà, Paloma
A1 Toro, Rocío
A1 Diez, Carles
A1 Salazar-Mendiguchía, Joel
A1 Fernandez-Falgueras, Anna
A1 Perez-Serra, Alexandra
A1 Coll, Monica
A1 Puigmulé, Marta
A1 Arbelo, Elena
A1 García-Álvarez, Ana
A1 Sarquella-Brugada, Georgia
A1 Cesar, Sergi
A1 Tiron, Coloma
A1 Iglesias, Anna
A1 Brugada, Josep
A1 Brugada, Ramon
A1 Campuzano, Oscar
K1 Sudden cardiac death
K1 Arrhythmia
K1 Dilated cardiomyopathy
K1 Genetics
K1 RBM20
K1 Muerte súbita cardíaca
K1 Arritmias cardíacas
K1 Cardiomiopatía dilatada
K1 Genética
K1 Supresión genética
AB The RBM20 gene encodes the muscle-specific splicing factor RNA-binding motif 20, a regulator of heart-specific alternative splicing. Nearly 40 potentially deleterious variants in RBM20 have been reported in the last ten years, being found to be associated with highly arrhythmogenic events in familial dilated cardiomyopathy. Frequently, malignant arrhythmias can be a primary manifestation of disease. The early recognition of arrhythmic genotypes is crucial in avoiding lethal episodes, as it may have an impact on the adoption of personalized preventive measures. Our study performs a comprehensive update of data concerning rare variants in RBM20 that are associated with malignant arrhythmogenic phenotypes with a focus on personalized medicine.
PB MDPI
YR 2021
FD 2021-02-15
LK http://hdl.handle.net/10668/4034
UL http://hdl.handle.net/10668/4034
LA en
NO Jordà P, Toro R, Diez C, Salazar-Mendiguchía J, Fernandez-Falgueras A, Perez-Serra A, et al. Malignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approach. J Pers Med. 2021 Feb 15;11(2):130
DS RISalud
RD Apr 6, 2025