Literature DB >> 34322310

RBM20 mutation and ventricular arrhythmias in a young patient with dilated cardiomyopathy: a case report.

Ioannis Liatakis1, Efstathia Prappa1, Aggeliki Gouziouta2, Malena P Pantou3, Polyxeni Gourzi3, Konstantinos Vlachos4, Panagiotis Mililis1, Ourania Kariki4, Dimitrios Degiannis3, Michael Efremidis4, Konstantinos P Letsas4.   

Abstract

Gene mutations in RBM20 have been identified in a minority of familial and sporadic dilated cardiomyopathy cases. Recent studies of carriers of RBM20 mutations not only highlight the aforementioned association with dilated cardiomyopathy but also indicate a link with increased incidence of ventricular arrhythmias. Herein we describe a case of 17-year-old female patient with dilated cardiomyopathy carrying a p.(Arg634Trp) RBM20 mutation and presenting with frequent premature ventricular contractions and episodes of non-sustained ventricular tachycardia. AJCD
Copyright © 2021.

Entities:  

Keywords:  RBM20 gene; cardiomyopathy; mutation; ventricular arrhythmias

Year:  2021        PMID: 34322310      PMCID: PMC8303033     

Source DB:  PubMed          Journal:  Am J Cardiovasc Dis        ISSN: 2160-200X


  19 in total

1.  Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy.

Authors:  Marwan M Refaat; Steven A Lubitz; Seiko Makino; Zahid Islam; J Michael Frangiskakis; Haider Mehdi; Rebecca Gutmann; Michael L Zhang; Heather L Bloom; Calum A MacRae; Samuel C Dudley; Alaa A Shalaby; Raul Weiss; Dennis M McNamara; Barry London; Patrick T Ellinor
Journal:  Heart Rhythm       Date:  2011-10-17       Impact factor: 6.343

2.  RBM20 Mutations Induce an Arrhythmogenic Dilated Cardiomyopathy Related to Disturbed Calcium Handling.

Authors:  Maarten M G van den Hoogenhof; Abdelaziz Beqqali; Ahmad S Amin; Ingeborg van der Made; Simona Aufiero; Mohsin A F Khan; Cees A Schumacher; Joeri A Jansweijer; Karin Y van Spaendonck-Zwarts; Carol Ann Remme; Johannes Backs; Arie O Verkerk; Antonius Baartscheer; Yigal M Pinto; Esther E Creemers
Journal:  Circulation       Date:  2018-09-25       Impact factor: 29.690

3.  RNA-binding proteins RBM20 and PTBP1 regulate the alternative splicing of FHOD3.

Authors:  P Lorenzi; A Sangalli; S Fochi; A Dal Molin; G Malerba; D Zipeto; M G Romanelli
Journal:  Int J Biochem Cell Biol       Date:  2018-11-20       Impact factor: 5.085

4.  Pathogenic RBM20-Variants Are Associated With a Severe Disease Expression in Male Patients With Dilated Cardiomyopathy.

Authors:  Thomas Morris Hey; Torsten B Rasmussen; Trine Madsen; Mads Malik Aagaard; Maria Harbo; Henning Mølgaard; Jacob E Møller; Hans Eiskjær; Jens Mogensen
Journal:  Circ Heart Fail       Date:  2019-03       Impact factor: 8.790

5.  Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy.

Authors:  Victoria N Parikh; Colleen Caleshu; Chloe Reuter; Laura C Lazzeroni; Jodie Ingles; John Garcia; Kristen McCaleb; Tolulope Adesiyun; Farbod Sedaghat-Hamedani; Saurabh Kumar; Sharon Graw; Marta Gigli; Davide Stolfo; Matteo Dal Ferro; Alexander Y Ing; Robert Nussbaum; Birgit Funke; Matthew T Wheeler; Ray E Hershberger; Stuart Cook; Lars M Steinmetz; Neal K Lakdawala; Matthew R G Taylor; Luisa Mestroni; Marco Merlo; Gianfranco Sinagra; Christopher Semsarian; Benjamin Meder; Daniel P Judge; Euan Ashley
Journal:  Circ Heart Fail       Date:  2019-03       Impact factor: 8.790

Review 6.  Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals.

Authors:  Elham Kayvanpour; Farbod Sedaghat-Hamedani; Ali Amr; Alan Lai; Jan Haas; Daniel B Holzer; Karen S Frese; Andreas Keller; Katrin Jensen; Hugo A Katus; Benjamin Meder
Journal:  Clin Res Cardiol       Date:  2016-08-30       Impact factor: 5.460

7.  Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy.

Authors:  Katharine M Brauch; Margaret L Karst; Kathleen J Herron; Mariza de Andrade; Patricia A Pellikka; Richard J Rodeheffer; Virginia V Michels; Timothy M Olson
Journal:  J Am Coll Cardiol       Date:  2009-09-01       Impact factor: 24.094

8.  Cardiomyopathy-associated mutations in the RS domain affect nuclear localization of RBM20.

Authors:  Anna Gaertner; Baerbel Klauke; Elina Felski; Astrid Kassner; Andreas Brodehl; Désirée Gerdes; Caroline Stanasiuk; Hans Ebbinghaus; Uwe Schulz; Karl-Otto Dubowy; Jens Tiesmeier; Kai-Thorsten Laser; Hendrik Bante; Leonard Bergau; Philipp Sommer; Henrik Fox; Michiel Morshuis; Jan Gummert; Hendrik Milting
Journal:  Hum Mutat       Date:  2020-09-09       Impact factor: 4.878

9.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

Review 10.  New Insights in RBM20 Cardiomyopathy.

Authors:  D Lennermann; J Backs; M M G van den Hoogenhof
Journal:  Curr Heart Fail Rep       Date:  2020-10
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  1 in total

1.  Dilated cardiomyopathy caused by a pathogenic nucleotide variant in RBM20 in an Iranian family.

Authors:  Mahshid Malakootian; Mahrokh Bagheri Moghaddam; Samira Kalayinia; Melody Farrashi; Majid Maleki; Parham Sadeghipour; Ahmad Amin
Journal:  BMC Med Genomics       Date:  2022-05-08       Impact factor: 3.622

  1 in total

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