Dilated Cardiomyopathy: A Novel BAG3 Mutation Associated with Aggressive Disease Progression and Ventricular Arrhythmias

Pastori, Paolo; Balla, Cristina; Rasia, Marta; Lo Jacono, Emilia; Guerra, Clelia; Schininà, Roberta; Gualandi, Francesca; Bertini, Matteo; Tortorella, Giovanni

doi:10.3390/jcdd12040121

Open AccessCase Report

Dilated Cardiomyopathy: A Novel BAG3 Mutation Associated with Aggressive Disease Progression and Ventricular Arrhythmias

by

Paolo Pastori

^1,†

,

Cristina Balla

^2,†

,

Marta Rasia

¹,

Emilia Lo Jacono

¹,

Clelia Guerra

¹,

Roberta Schininà

³,

Francesca Gualandi

³

,

Matteo Bertini

^2,*

and

Giovanni Tortorella

¹

Cardiology Unit, Medical and Diagnostics Department, Fidenza Hospital, Azienda USL of Parma, 43036 Fidenza, Italy

²

Cardiology Unit, Department of Translational Medicine, Sant’Anna University Hospital, University of Ferrara, Via Aldo Moro 8, 44124 Ferrara, Italy

³

Medical Genetics Service, Department of Mother and Child, Sant’Anna University Hospital, Via Aldo Moro 8, 44124 Ferrara, Italy

^*

Author to whom correspondence should be addressed.

^†

These authors contributed equally to this work.

J. Cardiovasc. Dev. Dis. 2025, 12(4), 121; https://doi.org/10.3390/jcdd12040121

Submission received: 20 February 2025 / Revised: 16 March 2025 / Accepted: 24 March 2025 / Published: 28 March 2025

(This article belongs to the Special Issue Modern Approach to Complex Arrhythmias, 2nd Edition)

Download

Browse Figures

Versions Notes

Abstract

We present the case of a 46-year-old man with a history of complex ventricular arrhythmias preceding the development of asymptomatic mild left ventricular dysfunction, who presented with acute-onset heart failure and was ultimately diagnosed with dilated cardiomyopathy. Genetic testing identified a novel, likely pathogenic mutation in exon 4 of the BAG3 gene (NM_004281, c.1128del, (p.(Ser377AlafsTer47)), not previously reported in the literature. Given the presence of multiple clinical features indicative of a poor prognosis, he underwent prophylactic placement of a subcutaneous implantable cardioverter-defibrillator. The clinical presentation of this novel BAG3 mutation suggests that it may be associated with a significant arrhythmic phenotype. This case underscores the importance of close follow-up and genetic testing in patients presenting with mild left ventricular dysfunction and ventricular arrhythmias.

Keywords: dilated cardiomyopathy; BAG3 gene mutation; ventricular arrhythmias; case report

Share and Cite

MDPI and ACS Style

Pastori, P.; Balla, C.; Rasia, M.; Lo Jacono, E.; Guerra, C.; Schininà, R.; Gualandi, F.; Bertini, M.; Tortorella, G. Dilated Cardiomyopathy: A Novel BAG3 Mutation Associated with Aggressive Disease Progression and Ventricular Arrhythmias. J. Cardiovasc. Dev. Dis. 2025, 12, 121. https://doi.org/10.3390/jcdd12040121

AMA Style

Pastori P, Balla C, Rasia M, Lo Jacono E, Guerra C, Schininà R, Gualandi F, Bertini M, Tortorella G. Dilated Cardiomyopathy: A Novel BAG3 Mutation Associated with Aggressive Disease Progression and Ventricular Arrhythmias. Journal of Cardiovascular Development and Disease. 2025; 12(4):121. https://doi.org/10.3390/jcdd12040121

Chicago/Turabian Style

Pastori, Paolo, Cristina Balla, Marta Rasia, Emilia Lo Jacono, Clelia Guerra, Roberta Schininà, Francesca Gualandi, Matteo Bertini, and Giovanni Tortorella. 2025. "Dilated Cardiomyopathy: A Novel BAG3 Mutation Associated with Aggressive Disease Progression and Ventricular Arrhythmias" Journal of Cardiovascular Development and Disease 12, no. 4: 121. https://doi.org/10.3390/jcdd12040121

APA Style

Pastori, P., Balla, C., Rasia, M., Lo Jacono, E., Guerra, C., Schininà, R., Gualandi, F., Bertini, M., & Tortorella, G. (2025). Dilated Cardiomyopathy: A Novel BAG3 Mutation Associated with Aggressive Disease Progression and Ventricular Arrhythmias. Journal of Cardiovascular Development and Disease, 12(4), 121. https://doi.org/10.3390/jcdd12040121

Note that from the first issue of 2016, this journal uses article numbers instead of page numbers. See further details here.

Article Menu

Dilated Cardiomyopathy: A Novel BAG3 Mutation Associated with Aggressive Disease Progression and Ventricular Arrhythmias

Abstract

Share and Cite

Article Metrics

Article Access Statistics

Further Information

Guidelines

MDPI Initiatives

Follow MDPI