Short QT syndrome type 5: Difference between revisions
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Latest revision as of 17:24, 3 September 2012
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Short QT syndrome Microchapters |
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Short QT syndrome type 5 On the Web |
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Risk calculators and risk factors for Short QT syndrome type 5 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: SQT5
Overview
A loss of function mutation in the CACNB2B gene alters the encoding for the α1- and β2b-subunits of the L-type calcium channel. The phenotype is similar to Brugada syndrome combined with a short QT interval. There is an increased risk of sudden cardiac death.