Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2022 May 1;37(3):212-218.
doi: 10.1097/HCO.0000000000000946.

Genetics of sudden cardiac death

Yael Ben-Haim  1 , Elijah R Behr
Affiliations
Review

Genetics of sudden cardiac death

Yael Ben-Haim et al. Curr Opin Cardiol. .

Abstract

Purpose of review: Numerous cardiac diseases may cause sudden cardiac death (SCD), and a genetic basis for SCD has been established in the inherited cardiac conditions (ICCs). Previously, ICCs were thought to have a Mendelian inheritance pattern, wherein a rare pathogenic/likely pathogenic variant in a known diseasecausing gene conferred risk. This inheritance model, however, could not explain a large proportion of cases.

Recent findings: Advancements in genomic technology have facilitated application of genome-wide association studies (GWAS), allowing appreciation of the full spectrum of genetic variation in large populations. It has become clear that common variants may contribute to disease phenotype in ICCs as well, albeit with a smaller effect size and the need for additional factors. This has caused a shift in the understanding of inheritance patterns in ICCs, now thought to have a more complex, polygenic nature.

Summary: Implementing this knowledge into genetic testing of SCD decedents will improve its diagnostic yield by identifying a subset of patients who do not carry a variant in one of the acknowledged disease-causing genes. It will also assist our understanding of modification of phenotype and potentially outcomes.

PubMed Disclaimer

References

    1. Priori SG, Blomström-Lundqvist C, Mazzanti A, et al. 2015 ESCGuidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: the Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC). Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC). Eur Heart J 2015; 36:2793–2867.
    1. Stiles MK, Wilde AAM, Abrams DJ, et al. 2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families. Heart Rhythm 2021; 18:e1–e50.
    1. Wong CX, Brown A, Lau DH, et al. Epidemiology of sudden cardiac death: global and regional perspectives. Heart Lung Circ 2019; 28:6–14.
    1. Bagnall RD, Weintraub RG, Ingles J, et al. A prospective study of sudden cardiac death among children and young adults. N Engl J Med 2016; 374:2441–2452.
    1. Scrocco C, Bezzina CR, Ackerman MJ, Behr ER. Genetics and genomics of arrhythmic risk: current and future strategies to prevent sudden cardiac death. Nat Rev Cardiol 2021; 18:774–784.

Publication types