Phenotypic overlap between long QT syndrome type 1 and Brugada syndrome: Possible insights into monogenic and polygenic architecture

Le résumé fourni par la source

Long QT syndrome (LQTS) and Brugada syndrome (BrS) are inherited arrhythmia syndromes associated with sudden cardiac death. LQTS is generally considered as a monogenic channelopathy caused by pathogenic variants in genes such as KCNQ1, KCNH2 and SCN5A encoding cardiac ion channels.(1,2) In contrast, BrS is not always monogenic but recently recognized as a genetically complex disorder in which oligogenic or polygenic susceptibility may substantially contribute to the phenotype.(3) Moreover, phenotypic overlap between LQTS and BrS has been reported; most overlapped cases were LQTS type 3 (LQT3) and BrS caused by some particular SCN5A variants, such as E1784K,(4) producing combined gain- and loss-of-function effects in Nav1.5 channel.(5)

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