An International Multicenter Evaluation of Type 5 Long QT Syndrome

Abstract

The present study suggests that putative/confirmed loss-of-function <i>KCNE1</i> variants predispose to QT prolongation, however, the low ECG penetrance observed suggests they do not manifest clinically in the majority of individuals, aligning with the mild phenotype observed for Type 2 Jervell and Lange-Nielsen syndrome patients.