GW29-e0203 Who is the pathogenic culprit? A LQTS family with three compound genetic mutations

Abstract

Congenital long QT syndrome (LQTS) caused by compound mutations is usually associated with more severe clinical phenotypes, however, the underlying mechanisms remain unclear. We identified a LQTS family harboring three compound mutations in different genes ( KCNQ1 -R174C, KCNH2 -E1039X and SCN5A -