Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome.

ABSTRACT: Recent studies have demonstrated an association between mutations in CACNA1c or CACNB2b and Brugada syndrome (BrS). Previously described mutations all caused a loss of function secondary to a reduction of peak calcium current (I(Ca)). We describe a novel CACNB2b mutation associated with BrS in which loss of function is caused by accelerated inactivation of I(Ca). The proband, a 32 year old male, displayed a Type I ST segment elevation in two right precordial ECG leads following a procainamide challenge. EP study was positive with induction of polymorphic VT/VF. Interrogation of implanted ICD revealed brief episodes of very rapid ventricular tachycardia. He was also diagnosed with vasovagal syncope. Genomic DNA was isolated from lymphocytes. All exons and intron borders of 15 ion channel ge

SUBMITTER: Cordeiro JM 

PROVIDER: S-EPMC2668128 | biostudies-literature | 2009 May

REPOSITORIES: biostudies-literature