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RBM20-Associated Ventricular Arrhythmias in a Patient with Structurally Normal Heart.

ABSTRACT: RBM20 (RNA-binding motif protein 20) is a splicing factor targeting multiple cardiac genes, and its mutations cause cardiomyopathies. Originally, RBM20 mutations were discovered to cause the development of dilated cardiomyopathy by erroneous splicing of the gene TTN (titin). Titin is a giant protein found in a structure of the sarcomere that functions as a molecular spring and provides a passive stiffness to the cardiomyocyte. Later, RBM20 mutations were also described in association with arrhythmogenic right ventricular cardiomyopathy and left ventricular noncompaction cardiomyopathy. Here, we present a clinical case of a rare arrhythmogenic phenotype and no structural cardiac abnormalities associated with a RBM20 genetic variant of uncertain significance.

SUBMITTER: Vakhrushev Y

PROVIDER: S-EPMC7828370 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature

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RBM20-Associated Ventricular Arrhythmias in a Patient with Structurally Normal Heart.

Vakhrushev Yuriy Y Kozyreva Alexandra A Semenov Andrey A Sokolnikova Polina P Lubimtseva Tamara T Lebedev Dmitry D Smolina Natalia N Zhuk Sergey S Mitrofanova Lubov L Vasichkina Elena E Kostareva Anna A

Genes 20210113 1

RBM20 (RNA-binding motif protein 20) is a splicing factor targeting multiple cardiac genes, and its mutations cause cardiomyopathies. Originally, RBM20 mutations were discovered to cause the development of dilated cardiomyopathy by erroneous splicing of the gene TTN (titin). Titin is a giant protein found in a structure of the sarcomere that functions as a molecular spring and provides a passive stiffness to the cardiomyocyte. Later, RBM20 mutations were also describe ...[more]

PMID: 33450993

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