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Journal of Interventional Cardiac Electrophysiology

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01-06-2013 | Reviews

Genetics of congenital and drug-induced long QT syndromes: current evidence and future research perspectives

Authors: Saagar Mahida, Andrew J. Hogarth, Campbell Cowan, Muzahir H. Tayebjee, Lee N. Graham, Christopher B. Pepper

Published in: Journal of Interventional Cardiac Electrophysiology | Issue 1/2013

Abstract

The long QT syndrome (LQTS) is a condition characterized by abnormal prolongation of the QT interval with an associated risk of ventricular arrhythmias and sudden cardiac death. Congenital forms of LQTS arise due to rare and highly penetrant mutations that segregate in a Mendelian fashion. Over the years, multiple mutations in genes encoding ion channels and ion channel binding proteins have been reported to underlie congenital LQTS. Drugs are by far the most common cause of acquired forms of LQTS. Emerging evidence suggests that drug-induced LQTS also has a significant heritable component. However, the genetic substrate underlying drug-induced LQTS is presently largely unknown. In recent years, advances in next-generation sequencing technology and molecular biology techniques have significantly enhanced our ability to identify genetic variants underlying both monogenic diseases and more complex traits. In this review, we discuss the genetic basis of congenital and drug-induced LQTS and focus on future avenues of research in the field. Ultimately, a detailed characterization of the genetic substrate underlying congenital and drug-induced LQTS will enhance risk stratification and potentially result in the development of tailored genotype-based therapies.

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Title: Genetics of congenital and drug-induced long QT syndromes: current evidence and future research perspectives
Authors: Saagar Mahida
Andrew J. Hogarth
Campbell Cowan
Muzahir H. Tayebjee
Lee N. Graham
Christopher B. Pepper
Publication date: 01-06-2013
Publisher: Springer US
Published in: Journal of Interventional Cardiac Electrophysiology / Issue 1/2013
Print ISSN: 1383-875X
Electronic ISSN: 1572-8595
DOI: https://doi.org/10.1007/s10840-013-9779-5

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