Genotype- and Phenotype-Guided Management of Congenital Long QT Syndrome

John R. Giudicessi, Michael J. Ackerman

Research output: Contribution to journalArticle

76 Scopus citations

Abstract

Congenital long QT syndrome (LQTS) is a genetically heterogeneous group of heritable disorders of myocardial repolarization linked by the shared clinical phenotype of QT prolongation on electrocardiogram and an increased risk of potentially life-threatening cardiac arrhythmias. At the molecular level, mutations in 15 distinct LQTS-susceptibility genes that encode ion channel pore-forming α-subunits and accessory β-subunits central to the electromechanical function of the heart have been implicated in its pathogenesis. Over the past 2 decades, our evolving understanding of the electrophysiological mechanisms by which specific genetic substrates perturb the cardiac action potential has translated into vastly improved approaches to the diagnosis, risk stratification, and treatment of patients with LQTS. In this review, we describe how our understanding of the molecular underpinnings of LQTS has yielded numerous clinically meaningful genotype-phenotype correlations and how these insights have translated into genotype- and phenotype-guided approaches to the clinical management of LQTS.

Original languageEnglish (US)
Pages (from-to)417-455
Number of pages39
JournalCurrent Problems in Cardiology
Volume38
Issue number10
DOIs
StatePublished - Oct 1 2013

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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