This review highlights the significant clinical, electrocardiographic, and genetic overlap between Brugada syndrome and early repolarisation syndrome, suggesting they may represent different phenotypes of the same genetic disease.
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Supports spectrum classification of these channelopathies; leaves open whether unified genetics refines sudden-death risk stratification.
Brugada and early repolarisation (ER) syndromes are currently considered two distinct inherited electrical disorders with overlapping clinical and electrocardiographic features. A considerable number of patients diagnosed with ER syndrome have a genetic mutation related to Brugada syndrome (BrS). Due to the high variable phenotypic manifestation, patients with BrS may present with inferolateral repolarisation abnormalities only, resembling the ER pattern. Moreover, the complex genotype-phenotype interaction in BrS can lead to the occurrence of mixed phenotypes with ER syndrome. The first part of this review focuses on specific clinical and electrocardiographic features of BrS and ER syndrome, highlighting the similarity shared by the two primary electrical disorders. The genetic background, with emphasis on the complexity of genotype-phenotype interaction, is explored in the second part of this review.
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Conte et al. (2016) studied this question.
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