A Novel Variant in SLC4A3 Gene Mutation Associated With Familial Short QT Syndrome and Sudden Death.

Abstract excerpt

INTRODUCTION: Short QT syndrome (SQTS) is a rare genetic arrhythmia associated with an increased risk of sudden cardiac death. BACKGROUND: Variants in the SLC4A3 gene have recently been linked to SQTS, though clinical evidence is limited. METHODS: We evaluated a 13-year-old girl with a short QT interval and her family through ECG and genetic testing. RESULTS: A novel heterozygous SLC4A3 mutation (c.1157G>T;...

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