Genetics of cardiac arrhythmias

S. Cummings, S. G. Priori

Research output: Contribution to journalArticlepeer-review


Continued research into the identification of mutated genes that cause inherited arrhythmogenic diseases has helped forward understanding into their pathophysiology. Over the last two decades the progress that has been made in the realm of genetic arrhythmias has made it possible not only for symptomatic patients to improve their outcomes, but also family members to better understand their risks and allow them in conjunction with their care providers to make the best decisions for their care. With this continued progress, significant changes will continue to occur in clinical practice. The advances in technology coupled with the improving understanding of genetically determined arrhythmias assists in earlier recognition of potentially fatal diseases, which leads to earlier implementation of treatment. It is the aim of this article to abridge the current knowledge of the genetic background of inherited arrhythmogenic diseases, namely long QT syndrome, short QT syndrome, Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. Pathogenesis and genotype-phenotype correlations are also discussed.

Original languageEnglish
Pages (from-to)209-222
Number of pages14
JournalMinerva Medica
Issue number3
Publication statusPublished - Jun 2011


  • Channelopathies
  • Genetics
  • Heart diseases

ASJC Scopus subject areas

  • Medicine(all)


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