Key result
Heterozygous SCN5A variants were associated with Brugada syndrome overlapping with arrhythmogenic right ventricular cardiomyopathy and conduction system disorders in two unrelated families.
Case Report
This report expands the phenotypic spectrum of SCN5A variants to include Brugada syndrome overlapping with ARVC and conduction system disorders.
SCN5A loss-of-function variants may warrant expanded genetic evaluation in cardiomyopathies; novel Level 5 data leave clinical adoption and causality open.
The cardiac sodium channel (Nav1.5) controls cardiac excitability by triggering the action potential of cardiac myocytes and controlling electric impulse transmission. However, it has also been associated with arrhythmogenic cardiomyopathies. Accordingly, genetic variants in SCN5A that result in loss of function of Nav1.5 are associated with inherited arrhythmia syndromes, which are caused by reduced cardiac excitability, particularly Brugada syndrome (BrS) as well as arrhythmogenic right ventricular cardiomyopathy (ARVC). We report a novel pathogenic SCNA5 variant being associated with BrS overlapping with ARVC, as well as disease progression with a previously reported SCN5A variant being associated with a phenotype of BrS and conduction system disorder in two unrelated families.
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Molitor et al. (2022) conducted a case report in Brugada syndrome and arrhythmogenic right ventricular cardiomyopathy. Heterozygous SCN5A variants was evaluated on Phenotypic presentation. Heterozygous SCN5A variants were associated with Brugada syndrome overlapping with arrhythmogenic right ventricular cardiomyopathy and conduction system disorders in two unrelated families.
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