Abstract 13422: A Family With KCNH2 and SLC4A3 Mutation of Short QT Syndrome Inducing Frequent Sudden Death in Young Age

Abstract

Case report: Short QT syndrome (SQTS) is an inherited disease characterized by abnormally short QTc intervals, which can lead to ventricular fibrillation(VF). However, the number of patients with SQTS are relatively low, and the optimal treatment for SQTS remains unclear. We experienced a family with SQTS inducing frequent sudden death of three sons. We identified KCNH2-H70Y in mother and three sons with QTc intervals 344, 300, 326, 322msec, respectively. Second son suffered cardiac arrest when he was 25-year-old. VF was recorded in the hospital, and the patient was successfully resuscitated. While recommended to implantable cardioverter defibrillator (ICD), oldest and third son suffered sudden death during nighttime sleep at their age 36 and 34. Functional analysis showed that cells expressing H70Y had significantly larger I Kr densities than WT. Also we identified SLC4A3 mutation in this family. Conclusions: Asymptomatic SQTS patients with family history may be recommended ICD implantation more strongly than class 2b. Registry studies of SQTS should be performed and solid guidelines should be established due to patients with poor prognosis of SQTS.