Genetics of sudden cardiac death - An epidemiologic perspective

Abstract

Despite a positive family history of SCD being associated with increased risk for SCD in the offspring, the genetic contribution to SCD in general and in proportion to the population at risk is considered to be small. The majority of SCD is rated a common disease with multi allelic susceptibility markers of minor effect size each. A smaller proportion of obvious familial forms of early onset SCD, or SCD in the young on the other hand is clearly linked to genetics. Here frequently, rare genetic variants with strong effects carry the major risk for SCD. Considering the genetic contribution to SCD it is imperative to specifically define the sub-phenotypes of SCD. Genomic approaches and novel sequencing technologies will allow enhancing our knowledge on the pathophysiology of arrhythmogenesis resulting in SCD.While the group of SCD in the young may account only for a smaller portion of all adult SCD, public awareness, specialized multidisciplinary centers for SCD and potentially regulations are needed to fully gain the benefit of genetic testing followed by family screening and simple but effective preventive measures that are well suited to reduce the burden of SCD in the young in the future.