Short QT syndrome type 5

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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.