Short QT syndrome type 2: Difference between revisions
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{{Short QT syndrome}} | {{Short QT syndrome}} | ||
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{{ | {{SK}} SQT2 | ||
==Overview== | |||
Caused by a mutation in the [[KCNQ1]] gene<ref name="pmid15159330">{{cite journal | author = Bellocq C, van Ginneken AC, Bezzina CR, Alders M, Escande D, Mannens MM, Baró I, Wilde AA | title = Mutation in the KCNQ1 gene leading to the short QT-interval syndrome | journal = [[Circulation]] | volume = 109 | issue = 20 | pages = 2394–7 | year = 2004 | month = May | pmid = 15159330 | doi = 10.1161/01.CIR.0000130409.72142.FE | url = http://circ.ahajournals.org/cgi/pmidlookup?view=long&pmid=15159330 | issn = | accessdate = 2012-09-02}}</ref>. 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== | ||
{{Reflist|2}} | {{Reflist|2}} |
Latest revision as of 17:15, 3 September 2012
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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
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