Short QT syndrome classification: Difference between revisions
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==[[Short QT syndrome type 2]] ([[SQT2]])== | ==[[Short QT syndrome type 2]] ([[SQT2]])== | ||
==Short QT syndrome type 3 | ==[[Short QT syndrome type 3]] ([[SQT3]])== | ||
==Short QT syndrome type 4 (SQT4)== | ==Short QT syndrome type 4 (SQT4)== | ||
A loss of function mutation in the [[CACNA1C]] 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]]. | A loss of function mutation in the [[CACNA1C]] 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]]. | ||
Revision as of 17:18, 3 September 2012
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Five variants of short QT syndrome have been characterized based upon the underlying genetic mutation, the electrocardiographic phenotype, and the clinical manifestations of the variant.
Short QT syndrome type 1 (SQT1)
Short QT syndrome type 2 (SQT2)
Short QT syndrome type 3 (SQT3)
Short QT syndrome type 4 (SQT4)
A loss of function mutation in the CACNA1C 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.
Short QT syndrome type 5 (SQT5)
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.