Monogenic atrial fibrillation as pathophysiological paradigms

Cardiovasc Res. 2011 Mar 1;89(4):692-700. doi: 10.1093/cvr/cvq381. Epub 2010 Nov 30.

Abstract

Atrial fibrillation (AF) is the most common cardiac rhythm abnormality and represents a major burden, both to patients and to health-care systems. In recent years, increasing evidence from population-based studies has demonstrated that AF is a heritable condition. Although familial forms of AF have been recognized for many years, they represent a rare subtype of the arrhythmia. However, despite their limited prevalence, the identification of mutations in monogenic AF kindreds has provided valuable insights into the molecular pathways underlying the arrhythmia and a framework for investigating AF encountered in the general population. In contrast to these rare families, the typical forms of AF occurring in the community are likely to be multigenic and have significant environmental influences. Recently, genome-wide association studies have uncovered common sequence variants that confer increased susceptibility to the arrhythmia. In the future, the elucidation of the genetic substrate underlying both familial and more typical forms of AF will hopefully lead to the development of novel diagnostic tools as well as more targeted rhythm control strategies. In this article, we will focus on monogenic forms of AF and also provide an overview of case-control association studies for AF.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Atrial Fibrillation / etiology*
  • Atrial Fibrillation / genetics*
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Humans
  • Mutation
  • Polymorphism, Genetic
  • Potassium Channels / genetics
  • Sodium Channels / genetics

Substances

  • Potassium Channels
  • Sodium Channels