Short QT syndrome classification

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Five variants of short QT syndrome have been characterized based upon the underlying genetic mutation, the electrocardiographic phenotype, and the clinical manifestations of the variant.

Short QT syndrome type 3 (SQT3)

This variant results from a G514A substitution in the KCNJ2 gene ( a change from aspartic acid to asparagine at position 172 (D172N)). This causes a defect in the gene coding for the inwardly rectifying Kir2.1 (I(K1)) channel. The ECG shows asymmetrical T waves. These patients have an increased risk for re-entry arrhythmias.

Short QT syndrome type 4 (SQT4)

A loss of function mutation in the CACNA1C gene alters the encoding for the α1- and β2b-subunits of the L-type calcium channel. The phenotype is similar to Brugada syndrome combined with a short QT interval. There is an increased risk of sudden cardiac death.

Short QT syndrome type 5 (SQT5)

A loss of function mutation in the CACNB2B gene alters the encoding for the α1- and β2b-subunits of the L-type calcium channel. The phenotype is similar to Brugada syndrome combined with a short QT interval. There is an increased risk of sudden cardiac death.