A single RBM20 missense variant is a potential contributor to dilated cardiomyopathy and/or isolated left ventricular dilatation in the Emilia Romagna region of Italy.

doi:10.1016/j.ijcard.2025.132999

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Article

A single RBM20 missense variant is a potential contributor to dilated cardiomyopathy and/or isolated left ventricular dilatation in the Emilia Romagna region of Italy.

International journal of cardiology - 15 Mar 2025

Carigi Samuela, Olivucci Giulia, Cristalli Carlotta Pia, Marzo Francesca, Isidori Federica, Palmieri Silvia, Schiavo Maria Alessandra, Gualandi Francesca, Amati Silvia, Rocchetti Luca Maria, Parmeggiani Giulia, Monti Luigi, Gardini Elisa, Bartolotti Michela, Gobbi Milva, Di Cesare Anna Maria, Luisi Giovanni Andrea, Graziosi Maddalena, Biagini Elena, Potena Luciano, Rossi Cesare, Diquigiovanni Chiara, Ottani Filippo, Graziano Claudio

Abstract excerpt

BACKGROUND: non-syndromic dilated cardiomyopathy (DCM) is found to correlate with a genetic cause in 30-40 % of cases. The identification of a causative gene variant can guide treatment options and cascade testing of at-risk family members. Cardiomyopathy multigene panels are routinely used to identify the genetic cause, but often detect variants of uncertain significance (VUS). Pathogenic variants in RBM20 have...

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PMID: 39855353
DOI: 10.1016/j.ijcard.2025.132999

Genes

RBM20

Variants

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