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Genetics of ion-channel disorders

Curr Opin Cardiol. 2012 May;27(3):242-52. doi: 10.1097/HCO.0b013e328352429d.

Abstract

Purpose of review: In this article, we summarize the main features of the most common inherited channelopathies, focusing on the findings that advanced the field in the last few years.

Recent findings: The progress in genetics prompted the discovery of several new genes associated with ion-channel disorders, elucidating new molecular pathways and new arrhythmogenic mechanisms. The diffusion and availability of genetic screening gave a new relevance to the application of genetics not only for diagnosis, but also for risk assessment and therapeutic decisions. As a consequence, the present challenge in the field is represented by the need to use genetic data to develop personalized clinical approaches.

Summary: Over a few years, the field of inherited arrhythmogenic diseases has rapidly expanded, thus reshaping clinical management for these conditions. It is now clear that to handle these patients a specialized expertise is needed, able to translate the discoveries derived from basic science studies into the clinical care of the patients.

Publication types

  • Review

MeSH terms

  • Brugada Syndrome / genetics
  • Channelopathies / genetics*
  • Genotype
  • Humans
  • Long QT Syndrome / epidemiology
  • Long QT Syndrome / genetics*
  • Myocytes, Cardiac
  • Phenotype
  • Potassium Channels / genetics*
  • Risk Assessment / methods
  • Tachycardia, Ventricular / genetics

Substances

  • Potassium Channels