Genetics for the electrophysiologist: Take home messages for the clinician

Carlo Napolitano, Samori Cummings

Research output: Contribution to journalArticle

Abstract

Syncope and risk of sudden death caused by ventricular tachyarrhythmia are the common manifestations of several inherited disorders. The abnormalities of the genetic makeup may directly affect proteins controlling cardiac excitability in a structurally normal heart. Other diseases manifest primarily with ventricular arrhythmias even if the genetic mutations cause structural abnormalities of the myocardium, such as arrhythmogenic right ventricular cardiomyopathy and hypertrophic cardiomyopathy. The groundbreaking discoveries that began in the 1990s and continued until the beginning of the current decade gathered fundamental knowledge about the major genes controlling cardiac excitability and conferring an increased risk of severe arrhythmias. Stemming from such knowledge is the availability of genetic diagnosis, genotype-phenotype correlation, and genotype-based risk stratification schemes. This article provides a concise description of the known genes and key mechanisms involved in the pathogenesis of inherited arrhythmias and outlines the possibilities, limitations, advantages, and potential threats of genetic testing for inherited arrhythmogenic syndromes.

Original languageEnglish
Pages (from-to)623-634
Number of pages12
JournalCardiac Electrophysiology Clinics
Volume2
Issue number4
DOIs
Publication statusPublished - Dec 2010

Keywords

  • Arrhythmias
  • Cardiomyopathy
  • Genetics
  • Potassium currents

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Physiology (medical)

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