Next-generation sequencing for the diagnosis of cardiac arrhythmia syndromes

Heart Rhythm. 2015 May;12(5):1062-70. doi: 10.1016/j.hrthm.2015.01.011. Epub 2015 Jan 24.


Inherited arrhythmia syndromes are collectively associated with substantial morbidity, yet our understanding of the genetic architecture of these conditions remains limited. Recent technological advances in DNA sequencing have led to the commercialization of genetic testing now widely available in clinical practice. In particular, next-generation sequencing allows the large-scale and rapid assessment of entire genomes. Although next-generation sequencing represents a major technological advance, it has introduced numerous challenges with respect to the interpretation of genetic variation and has opened a veritable floodgate of biological data of unknown clinical significance to practitioners. In this review, we discuss current genetic testing indications for inherited arrhythmia syndromes, broadly outline characteristics of next-generation sequencing techniques, and highlight challenges associated with such testing. We further summarize future directions that will be necessary to address to enable the widespread adoption of next-generation sequencing in the routine management of patients with inherited arrhythmia syndromes.

Keywords: Arrhythmia; Genetics; Mutation; Sequencing.

Publication types

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

MeSH terms

  • Arrhythmias, Cardiac* / congenital
  • Arrhythmias, Cardiac* / diagnosis
  • Arrhythmias, Cardiac* / genetics
  • Forecasting
  • Genetic Predisposition to Disease
  • Genetic Testing* / methods
  • Genetic Testing* / trends
  • Humans
  • Sequence Analysis, DNA* / methods
  • Sequence Analysis, DNA* / trends
  • Technology Transfer