| Literature DB >> 33671899 |
Paloma Jordà1, Rocío Toro2,3, Carles Diez4,5, Joel Salazar-Mendiguchía4, Anna Fernandez-Falgueras6, Alexandra Perez-Serra6,7, Monica Coll6, Marta Puigmulé6, Elena Arbelo1,7, Ana García-Álvarez1, Georgia Sarquella-Brugada8,9, Sergi Cesar8, Coloma Tiron10, Anna Iglesias6, Josep Brugada1,7,8, Ramon Brugada6,7,9,10, Oscar Campuzano6,7,8,9.
Abstract
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.Entities:
Keywords: RBM20; arrhythmia; dilated cardiomyopathy; genetics; sudden cardiac death
Year: 2021 PMID： 33671899 DOI： 10.3390/jpm11020130
Source DB: PubMed Journal: J Pers Med ISSN： 2075-4426