Next Generation Sequencing identified variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in 5 patients with Brugada type 1 ECG pattern, suggesting a genotypic overlap.
Case Report (n=5)
Are hypertrophic cardiomyopathy gene mutations present in patients with Brugada Type 1 ECG pattern?
Brugada type 1 ECG may be an early electrocardiographic marker of concealed structural heart disease, suggesting a genotypic overlap between Brugada syndrome and cardiomyopathies.
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.
Farnè et al. (Thu,) conducted a case report in Brugada type 1 ECG pattern (n=5). Next Generation Sequencing was evaluated on Identification of genetic variants. Next Generation Sequencing identified variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in 5 patients with Brugada type 1 ECG pattern, suggesting a genotypic overlap.
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