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Cardiogenetics
Volume 11
Issue 3
10.3390/cardiogenetics11030016
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Article

Mutations in MYBPC3 and MYH7 in Association with Brugada Type 1 ECG Pattern: Overlap between Brugada Syndrome and Hypertrophic Cardiomyopathy?

by
Marianna Farnè
1,†,
Cristina Balla
2,†,
Alice Margutti
1,
Rita Selvatici
1,
Martina De Raffele
2,
Assunta Di Domenico
2,
Paola Imbrici
3,
Elia De Maria
4,
Mauro Biffi
5,
Matteo Bertini
2,
Claudio Rapezzi
2,6,
Alessandra Ferlini
1,7 and
Francesca Gualandi
7,*
1
Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy
2
Cardiology Department, University Hospital S. Anna Ferrara, 44121 Ferrara, Italy
3
Department of Pharmacy-Drug Sciences, University of Bari “Aldo Moro”, 70125 Bari, Italy
4
Cardiology Unit, Ramazzini Hospital, 41012 Carpi (Modena), Italy
5
Department of Cardiology, S. Orsola-Malpighi Hospital, 40138 Bologna, Italy
6
Maria Cecilia Hospital, GVM Care & Research, 48033 Cotignola, Italy
7
Medical Genetics Service, Department of Mother and Child, University Hospital S. Anna Ferrara, 44121 Ferrara, Italy
*
Author to whom correspondence should be addressed.
†
First two authors contributed equally to the paper.
Cardiogenetics 2021, 11(3), 139-147; https://doi.org/10.3390/cardiogenetics11030016
Submission received: 11 June 2021 / Revised: 1 September 2021 / Accepted: 6 September 2021 / Published: 9 September 2021
(This article belongs to the Section Cardiovascular Genetics in Clinical Practice)
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Abstract

Brugada syndrome (BrS) is an inherited disorder with high allelic and genetic heterogeneity clinically characterized by typical coved-type ST segment elevation at the electrocardiogram (ECG), which may occur either spontaneously or after provocative drug testing. BrS is classically described as an arrhythmic condition occurring in a structurally normal heart and is associated with the risk of ventricular fibrillation and sudden cardiac death (SCD). We studied five patients with spontaneous or drug-induced type 1 ECG pattern, variably associated with symptoms and a positive family history through a Next Generation Sequencing panels approach, which includes genes of both channelopathies and cardiomyopathies. We identified variants in MYBPC3 and in MYH7, hypertrophic cardiomyopathy (HCM) genes (MYBPC3: p.Lys1065Glnfs*12 and c.1458-1G > A, MYH7: p.Arg783His, p.Val1213Met, p.Lys744Thr). Our data propose that Brugada type 1 ECG may be an early electrocardiographic marker of a concealed structural heart disease, possibly enlarging the genotypic overlap between Brugada syndrome and cardiomyopathies.
Keywords: Brugada syndrome; overlapping phenotypes; sarcomeric genes; MYBPC3; MYH7; hypertrophic cardiomyopathy Brugada syndrome; overlapping phenotypes; sarcomeric genes; MYBPC3; MYH7; hypertrophic cardiomyopathy

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MDPI and ACS Style

Farnè, M.; Balla, C.; Margutti, A.; Selvatici, R.; De Raffele, M.; Di Domenico, A.; Imbrici, P.; De Maria, E.; Biffi, M.; Bertini, M.; et al. Mutations in MYBPC3 and MYH7 in Association with Brugada Type 1 ECG Pattern: Overlap between Brugada Syndrome and Hypertrophic Cardiomyopathy? Cardiogenetics 2021, 11, 139-147. https://doi.org/10.3390/cardiogenetics11030016

AMA Style

Farnè M, Balla C, Margutti A, Selvatici R, De Raffele M, Di Domenico A, Imbrici P, De Maria E, Biffi M, Bertini M, et al. Mutations in MYBPC3 and MYH7 in Association with Brugada Type 1 ECG Pattern: Overlap between Brugada Syndrome and Hypertrophic Cardiomyopathy? Cardiogenetics. 2021; 11(3):139-147. https://doi.org/10.3390/cardiogenetics11030016

Chicago/Turabian Style

Farnè, Marianna, Cristina Balla, Alice Margutti, Rita Selvatici, Martina De Raffele, Assunta Di Domenico, Paola Imbrici, Elia De Maria, Mauro Biffi, Matteo Bertini, and et al. 2021. "Mutations in MYBPC3 and MYH7 in Association with Brugada Type 1 ECG Pattern: Overlap between Brugada Syndrome and Hypertrophic Cardiomyopathy?" Cardiogenetics 11, no. 3: 139-147. https://doi.org/10.3390/cardiogenetics11030016

APA Style

Farnè, M., Balla, C., Margutti, A., Selvatici, R., De Raffele, M., Di Domenico, A., Imbrici, P., De Maria, E., Biffi, M., Bertini, M., Rapezzi, C., Ferlini, A., & Gualandi, F. (2021). Mutations in MYBPC3 and MYH7 in Association with Brugada Type 1 ECG Pattern: Overlap between Brugada Syndrome and Hypertrophic Cardiomyopathy? Cardiogenetics, 11(3), 139-147. https://doi.org/10.3390/cardiogenetics11030016

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