Short QT syndrome type 2
(Redirected from SQT2)
|
Short QT syndrome Microchapters |
|
Diagnosis |
|---|
|
Case Studies |
|
Short QT syndrome type 2 On the Web |
|
American Roentgen Ray Society Images of Short QT syndrome type 2 |
|
Risk calculators and risk factors for Short QT syndrome type 2 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: SQT2
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
- ↑ 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
|month=ignored (help)