Matthew J O'Neill, Chai-Ann Ng, Takanori Aizawa, Luca Sala, Sahej Bains, Isabelle Denjoy, Annika Winbo, Rizwan Ullah, Qianyi Shen, Chek-Ying Tan, Krystian Kozek, Loren R Vanags, Devyn W Mitchell, Alex Shen, Yuko Wada, Asami Kashiwa, Lia Crotti, Federica Dagradi, Giulia Musu, Carla Spazzolini, Raquel Neves, J Martijn Bos, John R Giudicessi, Xavier Bledsoe, Megan Lancaster, Andrew M Glazer, Dan M Roden, Antoine Leenhardt, Joe-Elie Salem, Nikki Earle, Rachael Stiles, Taylor Agee, Christopher N Johnson, Minoru Horie, Jonathan Skinner, Fabrice Extramiana, Michael J Ackerman, Peter J Schwartz, Seiko Ohno, Jamie I Vandenberg, Brett M Kroncke
BACKGROUND: Long QT syndrome (LQTS) is a lethal arrhythmia condition, frequently caused by rare loss-of-function variants in the cardiac potassium channel encoded by KCNH2 . Variant-based risk stratification is complicated by heterogenous clinical data, incomplete penetrance, and low-throughput functional data. OBJECTIVE: To test the utility of variant-specific features, including high-throughput functional data, to predict cardiac events among KCNH2 variant heterozygotes...
February 5, 2024: medRxiv