Brugada ECG pattern in hypertrophic cardiomyopathy: Brugada phenocopy or overlapping syndrome?

Elia De Maria; Ambra Borghi; Laura Tonelli; Rita Selvatici; Stefano Cappelli; Francesca Gualandi

doi:10.1016/j.jelectrocard.2021.10.004

Brugada ECG pattern in hypertrophic cardiomyopathy: Brugada phenocopy or overlapping syndrome?

J Electrocardiol. 2021 Nov-Dec:69:132-135. doi: 10.1016/j.jelectrocard.2021.10.004. Epub 2021 Oct 22.

Authors

Elia De Maria¹, Ambra Borghi², Laura Tonelli³, Rita Selvatici³, Stefano Cappelli², Francesca Gualandi⁴

Affiliations

¹ Cardiology Unit, Ramazzini Hospital, Via Molinari, Carpi, Modena, Italy. Electronic address: e.demaria@inwind.it.
² Cardiology Unit, Ramazzini Hospital, Via Molinari, Carpi, Modena, Italy.
³ Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, 44121, Corso Giovecca 203, Ferrara, Italy.
⁴ Medical Genetics Service, Department of Mother and Child, University Hospital S. Anna Ferrara, 44121 Ferrara, Italy.

PMID: 34717131
DOI: 10.1016/j.jelectrocard.2021.10.004

Abstract

The term phenocopy indicates a condition that imitates one produced by a gene and is also used for acquired Brugada-like ECG manifestations. Cases of Brugada phenocopies are increasingly reported in literature and an international registry is ongoing. We describe two patients with Hypertrophic Cardiomyopathy (HCM) and Brugada ECG pattern. Both patients carried the same pathogenic splicing mutation in MYBPC3 gene (responsible for HCM) while no genetic mutation associated with Brugada Syndrome was identified. To the best of our knowledge, Brugada ECG pattern has been rarely reported in patients with HCM.

Keywords: Brugada; Hypertrophic cardiomyopathy; Phenocopy.

MeSH terms

Brugada Syndrome* / diagnosis
Brugada Syndrome* / genetics
Cardiomyopathy, Hypertrophic* / complications
Cardiomyopathy, Hypertrophic* / diagnosis
Cardiomyopathy, Hypertrophic* / genetics
Electrocardiography
Humans
Mutation
Phenotype