Related Experiment Video

Updated: Aug 25, 2026

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

Genomics in sudden cardiac death

Dan E Arking1, Sumeet S Chugh, Aravinda Chakravarti

  • 1McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733 N Broadway, Room 580, Baltimore, Md 21205, USA. arking@jhmi.edu

Circulation Research
|April 3, 2004
PubMed

Insights

Sudden cardiac death (SCD) is a growing concern, with rising rates linked to heart disease and heart failure. Genomic science offers new ways to identify genetic risks for life-threatening arrhythmias and develop better prevention strategies.

Area of Science:

  • Genomics
  • Cardiovascular Medicine
  • Public Health

Background:

  • Sudden cardiac death (SCD) remains a significant public health issue, with increasing rates despite overall decreased cardiac mortality.
  • Coronary disease and heart failure are major predisposing conditions for SCD.
  • Current methods for identifying high-risk patients and preventing SCD are limited, especially in subclinical heart disease populations.

Purpose of the Study:

  • To review advances in genomic science for understanding and preventing SCD.
  • To explore novel bioinformatic and genetic screening methods for identifying SCD risk.
  • To discuss the application of genome-wide analyses for arrhythmia susceptibility in common cardiac conditions.

Main Methods:

  • Review of genomic science advancements relevant to SCD.
  • Discussion of bioinformatic approaches for gene/pathway identification.
  • Exploration of high-density genome-wide SNP analyses for arrhythmia susceptibility.

Main Results:

  • Genomic science offers novel bioinformatic and screening tools to identify candidate genes and functional genetic elements related to SCD.
  • Genome-wide SNP analyses can investigate genetic contributions to arrhythmia susceptibility in common SCD forms.
  • Advances in genomics provide new strategies for identifying susceptibility in common cardiac phenotypes.

Conclusions:

  • Genomic approaches are crucial for advancing the understanding of SCD, particularly in rare and common heart diseases.
  • Novel strategies derived from genomic research hold promise for identifying new therapeutic targets for SCD prevention.
  • Integrating genomic insights into cardiovascular medicine is essential for tackling the public health challenge of SCD.

More Related Videos

Implantation of Electroencephalogram and Electrocardiogram Telemetry Devices in Neonatal Rabbit Kits06:46

Implantation of Electroencephalogram and Electrocardiogram Telemetry Devices in Neonatal Rabbit Kits

Published on: February 28, 2025

Nuclei Isolation from Mouse Cardiac Progenitor Cells for Epigenome and Gene Expression Profiling at Single-Cell Resolution10:03

Nuclei Isolation from Mouse Cardiac Progenitor Cells for Epigenome and Gene Expression Profiling at Single-Cell Resolution

Published on: May 12, 2023

Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Genomics02:02

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
Mechanism of Cardiac Arrhythmias01:28

Mechanism of Cardiac Arrhythmias

Arrhythmias are irregular heart rhythms occurring when the heart's electrical impulses become abnormal. These disturbances can lead to various symptoms, depending on their severity and the underlying cause. Some common factors contributing to arrhythmias include hypoxia, ischemia, electrolyte imbalances, excessive catecholamine exposure, drug toxicity, and muscle overstretching. Arrhythmias can be classified into two main types based on the rate and site of origin of abnormal heart rhythms.
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...