Clinical Implications and Gender Differences of KCNQ1 p.Gly168Arg Pathogenic Variant in Long QT Syndrome.
Rebeca LorcaAlejandro JuncoMaria Martin-FernandezIsaac PascualAndrea AparicioNoemi BarjaElias Cuesta-LLavonaLuis RocesPablo AvanzasCésar MorísEliecer CotoJosé Julían Rodríguez RegueroJuan Gómez de OñaPublished in: Journal of clinical medicine (2020)
KCNQ1 G168R is a pathogenic variant, with a high penetrance among women and mild penetrance among men. Risk for LAEs in this variant seems not negligible, especially among woman, and risk stratification should always be carefully evaluated.