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Updated: Jun 4, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
[Short QT syndrome as an inherited condition]
Daniel Vega Møller1, Paula L Hedley, Morten Olesen
1Sektion for Forskning og Udvikling, Klinisk Biokemisk og Immunologisk Afdeling, Statens Serum Institut, 85/141, Artillerivej 5, 2300 København S, Denmark. dvm@ssi.dk
Abstract:
Inherited ion-channel disorders can lead to life-threatening cardiac arrhythmias. A recent, rare entity has been discovered and termed short QT syndrome due to its electrocardiac features in conjunction with atrial and ventricular tachyarrhythmias as well as syncope and sudden cardiac death. The basis of the new syndrome is genetic and this review covers the genes responsible for the condition as well as the pathophysiology and diagnostic challenges involved in the syndrome. Furthermore, treatment for this new arrhythmic syndrome is reviewed.
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