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Updated: Jul 6, 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--a case report]
Stefan Sawicki1, Wojciech Stadnicki, Jacek Kuśnierz
1Klinika Kardiologii Zachowawczej, Centralny Szpital Kliniczny MSWiA, ul. Wołoska 137, Warsaw. s.sawicki@plusnet.pl
Abstract:
We present two new cases of the short QT syndrome--a 23-year-old male and his 42-year-old mother. Invasive electrophysiological study was negative in both patients. Due to polymorphic ventricular tachycardia recorded during Holter ECG monitoring, an ICD was implanted in the male patient for primary prevention. Blood samples were collected for further genetic studies. Diagnosis and management of patients with the short QT syndrome are discussed.
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