Genotype-Phenotype Correlation of SCN5A Genotype in Patients With Brugada Syndrome and Arrhythmic Events: Insights From the SABRUS in 392 Probands.
Anat MilmanDavid C JohnsonAntoine AndorinAviram HochstadtJean-Baptiste GourraudShingo MaedaYoshihide TakahashiJimmy Jyh-Ming JuangSung-Hwan KimTsukasa KamakuraPieter G PostemaYuka MizusawaCarla GiustettoZheng-Rong HuangGeorgia Sarquella-BrugadaAndrea MazzantiCamilla H B JespersenElena ArbeloRamón BrugadaLeonardo CalòDomenico CorradoRuben Casado ArroyoGiuseppe AlloccaMasahiko TakagiPietro DeliseJosep BrugadaJacob Tfelt-HansenSilvia Giuliana PrioriGan-Xin YanPedro BrugadaFiorenzo GaitaKengo F KusanoGi-Byoung NamKenzo HiraoBernard BelhassenPublished in: Circulation. Genomic and precision medicine (2021)
The genetic basis of BrS has a complex relationship with gender, ethnicity, and age. Probands hosting a P/LP variant tended to experience their first arrhythmic event at a younger age and to have events triggered by fever compared with patients with SCN5A-. In addition, they were more likely to be White and to have family history of sudden cardiac death. Among females, a P/LP variant suggests an increased risk of being symptomatic. This association should be further studied on an ethnically specific basis in large prospectively collected international cohorts.
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