| Title: |
Cohort analysis of variants in the RBM20 gene. Is there a profile for electrocardiographic phenotype, arrhythmogenic features and outcomes? |
| Authors: |
Pagotti, M; Darrieux, F D; Braga, F G M B; Fernandes, F F; Bueno, S C P B; Franca, A T F; Santos, B M S; Olivetti, N Q S O; Carmo, A A L C; Pires, L V L P; Carvalho, M L P C; Krieger, J E K; Scanavacca, M S; Sacilotto, L S |
| Source: |
European Heart Journal ; volume 46, issue Supplement_1 ; ISSN 0195-668X 1522-9645 |
| Publisher Information: |
Oxford University Press (OUP) |
| Publication Year: |
2025 |
| Description: |
Background The RBM20 gene encodes a protein involved in RNA splicing regulation. First linked to cardiomyopathy in 2009, its prevalence according to the recent 2023 cardiomyopathy classification, in each proposed phenotype remains uncertain. Purpose To describe the phenotypic profile of carriers of pathogenic/likely pathogenic RBM20 variants. Methods This ambispective, observational cohort study in patients with pathogenic/likely pathogenic RBM20 variants identified through genetic testing for structural heart disease or high-risk arrhythmogenic phenotypes (aborted sudden cardiac death (SCD) or sustained ventricular arrhythmias) without structural heart disease and with a family history (FH) of suspected SCD. Data collected between April 2021 and December 2023, included clinical features, diagnostic findings, and severe outcomes such as life-threatening arrhythmic events (sustained VT, SCD, ICD therapies), end-stage heart failure, or heart transplantation (Htx). Results Fourteen patients (12 probands, mean age 41 years, 57.1% male) were included. At presentation, 5/14 (35.7%) were asymptomatic, 8/14 (57.1%) had heart failure symptoms. ECG had a mean PR interval of 140 ms, with 5/14 (35.7%) |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1093/eurheartj/ehaf784.616 |
| Availability: |
https://doi.org/10.1093/eurheartj/ehaf784.616; https://academic.oup.com/eurheartj/article-pdf/46/Supplement_1/ehaf784.616/65184534/ehaf784.616.pdf |
| Rights: |
https://academic.oup.com/pages/standard-publication-reuse-rights |
| Accession Number: |
edsbas.CE6ECC8A |
| Database: |
BASE |