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

• Main Authors: Marianna Farnè, Cristina Balla, Alice Margutti, Rita Selvatici, Martina De Raffele, Assunta Di Domenico, Paola Imbrici, Elia De Maria, Mauro Biffi, Matteo Bertini, Claudio Rapezzi, Alessandra Ferlini, Francesca Gualandi
• Format: Article
• Language: English
• Published: MDPI AG 2021-09-01
• Series: Cardiogenetics
• Subjects: Brugada syndrome; overlapping phenotypes; sarcomeric genes; <i>MYBPC3</i>; <i>MYH7</i>; hypertrophic cardiomyopathy
• Online Access: https://www.mdpi.com/2035-8148/11/3/16

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 <i>MYBPC3</i> and in <i>MYH7</i>, hypertrophic cardiomyopathy (HCM) genes (<i>MYBPC3</i>: p.Lys1065Glnfs*12 and c.1458-1G > A, <i>MYH7</i>: 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.