Identifies a novel KCNQ1 variant associated with short QT syndrome, expanding the known genetic basis of this rare channelopathy.
May support expanded genetic panels in short QT syndrome; extends known variants but remains hypothesis-generating.
Short QT syndrome (SQTS) is a rare and relatively recently discovered cardiac channelopathy associated with atrial and ventricular fibrillation and sudden cardiac death. A short QT interval on electrocardiogram (ECG) is particularly rare in the pediatric population, with a reported incidence of 0.05%.1 This autosomal dominant condition has been associated with 20 different variants in 9 different genes.1 Associated genes include those encoding potassium channels (KCNH2, KCNQ1, KCNJ2) and cation channels (SCN5A), genes encoding L-type calcium channel subunits (CACNA1C, CACNB2b, CACNA2D1), and, less commonly, anion exchanger mutations such as SLC4A3.
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Schneider et al. (2021) studied this question.
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