Study of genetic markers of cardiac arrhythmias in Kazakhstan.

ABSTRACT:

Introduction

Cardiac arrhythmias are the most common cause of mortality and sudden cardiac death worldwide. In the past decade, genetic factors underlying arrhythmogenic diseases have been revealed and given novel insights in to the understanding and treatment of arrhythmias predisposing one to sudden cardiac death.

Material and methods

We conducted a pilot genetic screening of two patients with catecholaminergic polymorphic ventricular tachycardia (CPVT) and 14 patients with ventricular tachycardia (VT) for genetic variants in the human ryanodine receptor gene 2 (hRYR2). The most relevant 45 hot-spot exons of hRYR2 were amplified by polymerase chain reaction (PCR) and directly sequenced.

Results

One novel mutation in a CPVT patient (c.A13892T; p.D4631V) and a novel m

SUBMITTER: Bekbossynova M 

PROVIDER: S-EPMC5960908 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature