Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Short QT syndrome type 2
Introduction
Synonyms and keywords: SQT2
Overview
Overview
Caused by a mutation in the KCNQ1 gene[1]. In the first patient, a g919c substitution in the KCNQ1 gene encoding for the K+ channel KvLQT1 was identified. The mutation led to a gain of function in in the KvLQT1 (I(Ks)) channel. This variant is associated with ventricular fibrillation.
References
References
- ↑ Bellocq C, van Ginneken AC, Bezzina CR, Alders M, Escande D, Mannens MM, Baró I, Wilde AA (2004). “Mutation in the KCNQ1 gene leading to the short QT-interval syndrome”. Circulation. 109 (20): 2394–7. doi:10.1161/01.CIR.0000130409.72142.FE. PMID 15159330. Retrieved 2012-09-02. Unknown parameter
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]