Short QT syndrome.

In 2000, Gussak et al. first described an idiopathic short QT interval associated with atrial fibrillation (AF) in one family and a sudden death in an unrelated individual (Gussak et al. Cardiology 94:99–102, 2000). Three years later, in 2003, Gaita et al. reported the association of a short QT interval and sudden cardiac death in two unrelated European families (Gaita et al. Circulation 108:965–70, 2003). Within the following years, a variety of mutations in different genes most likely causative for the short QT interval were identified. The initially reported mutations either caused a gain of function of cardiac potassium channels IKr, IKs, and IK1, or a loss of function in the cardiac L-type calcium channel (ICa) (Bellocq et al. Circulation 109:2394–7, 2004; Priori et al. Circ Res 96:800–7, 2005; Antzelevitch et al. Circulation 115:442–9, 2007; Hong et al. Cardiovasc Res 68:433–40, 2005; Brugada et al. Circulation 109:30–5, 2004; El Harchi et al. PLoS One 7:e52451, 2012; Moreno et al. Cardiovasc Res 107:613–23, 2015; Giustetto et al. Eur Heart J 27:2440–7; 2006).

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