SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome.

ABSTRACT:

Background

Congenital long-QT syndrome (LQTS) is potentially lethal secondary to malignant ventricular arrhythmias and is caused predominantly by mutations in genes that encode cardiac ion channels. Nearly 25% of patients remain without a genetic diagnosis, and genes that encode cardiac channel regulatory proteins represent attractive candidates. Voltage-gated sodium channels have a pore-forming alpha-subunit associated with 1 or more auxiliary beta-subunits. Four different beta-subunits have been described. All are detectable in cardiac tissue, but none have yet been linked to any heritable arrhythmia syndrome.

Methods and results

We present a case of a 21-month-old Mexican-mestizo female with intermittent 2:1 atrioventricular block and a corrected QT interval of 712 ms. Co

SUBMITTER: Medeiros-Domingo A 

PROVIDER: S-EPMC3332546 | biostudies-literature | 2007 Jul

REPOSITORIES: biostudies-literature