Article
Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland.
Journal of the American Heart Association - 18 Jul 2023
Sveinbjornsson Gardar, Benediktsdottir Bara D, Sigfusson Gunnlaugur, Norland Kristjan, Davidsson Olafur B, Thorolfsdottir Rosa B, Tragante Vinicius, Arnadottir Gudny A, Jensson Brynjar O, Katrinardottir Hildigunnur, Fridriksdottir Run, Gudmundsdottir Hallbera, Aegisdottir Hildur M, Fridriksson Brynjar, Thorgeirsson Gudmundur, Magnusson Vidar, Oddsson Asmundur, Sulem Patrick, Gudbjartsson Daniel F, Holm Hilma, Arnar David O, Stefansson Kari
Abstract excerpt
Background Long-QT syndrome (LQTS) is a cardiac repolarization abnormality that can lead to sudden cardiac death. The most common causes are rare coding variants in the genes KCNQ1, KCNH2, and SCN5A. The data on LQTS epidemiology are limited, and information on expressivity and penetrance of pathogenic variants is sparse. Methods and Results We screened for rare coding variants associated with the corrected QT...
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