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与恶性心律失常相关的作用:基于个性化方法的全面解读

Malignant Arrhythmogenic Role Associated with : A Comprehensive Interpretation Focused on a Personalized Approach.

作者信息

Jordà Paloma, Toro Rocío, Diez Carles, Salazar-Mendiguchía Joel, Fernandez-Falgueras Anna, Perez-Serra Alexandra, Coll Monica, Puigmulé Marta, Arbelo Elena, García-Álvarez Ana, Sarquella-Brugada Georgia, Cesar Sergi, Tiron Coloma, Iglesias Anna, Brugada Josep, Brugada Ramon, Campuzano Oscar

机构信息

Cardiology Department, Hospital Clinic, University of Barcelona-IDIBAPS, 08036 Barcelona, Spain.

Medicine Department, School of Medicine, University of Cadiz, 11001 Cadiz, Spain.

出版信息

J Pers Med. 2021 Feb 15;11(2):130. doi: 10.3390/jpm11020130.

Abstract

The gene encodes the muscle-specific splicing factor RNA-binding motif 20, a regulator of heart-specific alternative splicing. Nearly 40 potentially deleterious variants in 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 that are associated with malignant arrhythmogenic phenotypes with a focus on personalized medicine.

摘要

该基因编码肌肉特异性剪接因子RNA结合基序20,它是心脏特异性可变剪接的调节因子。在过去十年中,已报道了该基因中近40种潜在有害变体,发现它们与家族性扩张型心肌病中的高度致心律失常事件有关。恶性心律失常通常可能是疾病的主要表现。心律失常基因型的早期识别对于避免致命发作至关重要,因为它可能会影响个性化预防措施的采用。我们的研究对与恶性致心律失常表型相关的该基因罕见变体的数据进行了全面更新,重点关注个性化医疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a5b/7918949/99ecb0b8eda9/jpm-11-00130-g001.jpg

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