Abstract
Long QT syndrome (LQTS) is characterized by QT prolongation and increased risk for syncope, seizures, and sudden cardiac death. The majority of LQTS stems from pathogenic variants in either KCNQ1, KCNH2, or SCN5A. However, ∼10% of patients clinically diagnosed with LQTS remain genetically elusive. Here, we used genome sequencing (GS) to identify a novel LQTS genetic substrate in a multi-generational “genotype negative” LQTS pedigree with a LQT2-like phenotype.
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