Genetic arrhythmias

Silvia G. Priori, Marina Cerrone

Research output: Contribution to journalArticle

Abstract

The increasing interaction between molecular biology and clinical cardiology has allowed to demonstrate that mutations on the genes encoding cardiac on channels or regulatory proteins can cause inherited arrhythmogenic disorders predisposing to sudden death in young individuals. These diseases are the long QT syndrome, the Brugada syndrome, the catecholaminergic polymorphic ventricular tachycardia, and the short QT syndrome. Since incomplete penetrance is present, genetic screening is pivotal to perform a correct diagnosis in mutation carriers who do not manifest phenotype, but are still at increased risk of cardiac events if left untreated. All these syndromes show genetic heterogeneity and it is becoming evident that each genetic variant of the disease presents distinguishing clinical characteristics suggesting that genetics may be used for targeting risk stratification and treatment of these diseases. In this chapter, the molecular bases, the clinical features and the current therapeutic approach of these syndromes are presented.

Original languageEnglish
Pages (from-to)241-248
Number of pages8
JournalItalian Heart Journal
Volume6
Issue number3
Publication statusPublished - Mar 2005

Keywords

  • Genetics
  • Implantable cardioverter-defibrillator
  • Ion channels
  • QT interval
  • Sudden cardiac death

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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    Priori, S. G., & Cerrone, M. (2005). Genetic arrhythmias. Italian Heart Journal, 6(3), 241-248.