B-PO05-027 GENOME SEQUENCING IN A GENETICALLY ELUSIVE MULTI-GENERATIONAL LONG QT SYNDROME PEDIGREE IDENTIFIES A NOVEL PATHOGENIC CAUSE

Long QT syndrome (LQTS) is explained by pathogenic variants in 17 LQTS-susceptibility genes with the majority occurring in KCNQ1, KCNH2, or SCN5A. However, up to 20% of LQTS phenotype-positive patients remain genetically elusive following comprehensive genetic testing for LQTS. To identify the pathogenic substrate responsible for a genetically elusive LQTS phenotype in a multigenerational pedigree. The index case was a 40-year-old female with a...