Related Experiment Video

Updated: Nov 3, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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Genetic Variants Associated With Unexplained Sudden Cardiac Death in Adult White and African American Individuals

Liang Guo1,2, Sho Torii1,3, Raquel Fernandez1

  • 1CVPath Institute, Gaithersburg, Maryland.

JAMA Cardiology
|June 2, 2021
PubMed

Insights

Genetic variants in cardiomyopathy and arrhythmia genes are found in nearly 20% of unexplained sudden cardiac death (SCD) cases. This suggests a significant genetic contribution to SCD, warranting further research into inherited cardiac conditions.

Area of Science:

  • Cardiovascular Genetics
  • Sudden Cardiac Death Research
  • Genetic Association Studies

Background:

  • Unexplained sudden cardiac death (SCD) lacks a clear cause, prompting investigation into genetic factors.
  • Inherited cardiomyopathies (CMs) and arrhythmia syndromes are potential contributors to SCD.
  • Systematic examination of genetic variants in White and African American adults with unexplained SCD is lacking.

Purpose of the Study:

  • To determine the frequency of pathogenic or likely pathogenic (P/LP) genetic variants in inherited CMs and arrhythmia syndromes among unexplained SCD cases.
  • To investigate the association between these genetic variants and unexplained SCD in diverse populations.

Main Methods:

  • A genetic association study analyzed DNA from 413 adults who died of unexplained SCD (autopsy registry).
  • Sequencing focused on 30 CM genes and 38 arrhythmia genes, identifying P/LP variants.
  • Data from 683 individuals (White and African American) were collected between 1995 and 2015.

Main Results:

  • Nearly 20% (18.4%) of individuals with unexplained SCD carried P/LP variants for CM or arrhythmia genes.
  • Specific P/LP variants were identified for hypertrophic CM (10.9%), dilated CM (2.7%), and long QT syndrome (2.7%).
  • No significant differences in clinical characteristics were observed; White and African American patients were equally likely to have P/LP variants.

Conclusions:

  • Genetic factors, specifically P/LP variants in CM and arrhythmia genes, likely contribute to a substantial proportion of unexplained SCD.
  • Findings highlight the importance of genetic testing in unexplained SCD cases.
  • Further research into race-specific genetic variants and CM/arrhythmia gene associations is recommended.
Abstract

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