Genetics of Sudden Cardiac Death

Connie R. Bezzina, Najim Lahrouchi, Silvia G. Priori

Research output: Contribution to journalArticle

Abstract

Sudden cardiac death occurs in a broad spectrum of cardiac pathologies and is an important cause of mortality in the general population. Genetic studies conducted during the past 20 years have markedly illuminated the genetic basis of the inherited cardiac disorders associated with sudden cardiac death. Here, we review the genetic basis of sudden cardiac death with a focus on the current knowledge on the genetics of the primary electric disorders caused primarily by mutations in genes encoding ion channels, and the cardiomyopathies, which have been attributed to mutations in genes encoding a broader category of proteins, including those of the sarcomere, the cytoskeleton, and desmosomes. We discuss the challenges currently faced in unraveling genetic factors that predispose to sudden cardiac death in the setting of sequela of coronary artery disease and present the genome-wide association studies conducted in recent years on electrocardiographic parameters, highlighting their potential in uncovering new biological insights into cardiac electric function.

Original languageEnglish
Pages (from-to)1919-1936
Number of pages18
JournalCirculation Research
Volume116
Issue number12
DOIs
Publication statusPublished - Jun 5 2015

Fingerprint

Sudden Cardiac Death
Desmosomes
Sarcomeres
Mutation
Genome-Wide Association Study
Cytoskeleton
Cardiomyopathies
Ion Channels
Genes
Coronary Artery Disease
Pathology
Mortality
Population
Proteins

Keywords

  • arrhythmias, cardiac
  • cardiomyopathies
  • death, sudden, cardiac
  • genetics
  • genome-wide association study

ASJC Scopus subject areas

  • Physiology
  • Cardiology and Cardiovascular Medicine
  • Medicine(all)

Cite this

Genetics of Sudden Cardiac Death. / Bezzina, Connie R.; Lahrouchi, Najim; Priori, Silvia G.

In: Circulation Research, Vol. 116, No. 12, 05.06.2015, p. 1919-1936.

Research output: Contribution to journalArticle

Bezzina, Connie R. ; Lahrouchi, Najim ; Priori, Silvia G. / Genetics of Sudden Cardiac Death. In: Circulation Research. 2015 ; Vol. 116, No. 12. pp. 1919-1936.
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