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Updated: Oct 1, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Racial Disparities in Ion Channelopathies and Inherited Cardiovascular Diseases Associated With Sudden Cardiac Death
Mohamed Chahine1,2, John M Fontaine3,4, Mohamed Boutjdir5,6,7
1Department of Medicine Faculty of Medicine Université Laval Quebec City QC Canada.
Insights
African Americans experience higher cardiovascular disease (CVD) mortality and sudden cardiac death due to genetic factors and treatment disparities. Addressing these requires diverse clinical trials and improved access to genetic testing and devices.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Health Disparities
Background:
- Cardiovascular disease (CVD) remains a leading cause of death globally, with cardiac arrhythmias contributing significantly.
- Despite advances, significant racial and ethnic disparities persist in CVD morbidity and mortality.
- African American/Black subjects exhibit disproportionately higher rates of CVD, including sudden cardiac death.
Purpose of the Study:
- To review cardiac channelopathies and inherited disorders linked to sudden cardiac death in African Americans.
- To explore the role of epigenetics in CVD phenotypic manifestations within this population.
- To highlight disparities in treatment, device use, and knowledge gaps in CVD management for African Americans.
Main Methods:
- Literature review of available scientific data.
- Focus on inherited cardiac disorders and sudden cardiac death in African American/Black subjects.
- Analysis of epigenetic influences on CVD phenotypes and treatment disparities.
Main Results:
- African Americans face higher CVD mortality and out-of-hospital cardiac arrest rates.
- Underrepresentation in clinical trials, limited genetic testing, and underuse of cardiac devices are prevalent.
- Existing disparities in treatment and outcomes are evident.
Conclusions:
- Early identification of genetic variants is crucial for preventive strategies in African Americans.
- Increased diversity in clinical trials and guideline-directed care are essential.
- Addressing knowledge gaps and improving access to advanced cardiovascular care are critical for reducing CVD disparities.
Abstract:
Cardiovascular disease (CVD) continues to be the most common cause of death worldwide, and cardiac arrhythmias account for approximately one half of these deaths. The morbidity and mortality from CVD have been reduced significantly over the past few decades; however, disparities in racial or ethnic populations still exist. This review is based on available literature to date and focuses on known cardiac channelopathies and other inherited disorders associated with sudden cardiac death in African American/Black subjects and the role of epigenetics in phenotypic manifestations of CVD, and illustrates existing disparities in treatment and outcomes. The review also highlights the knowledge gaps that limit understanding of the manifestation of phenotypic abnormalities across racial or ethnic groups and discusses disparities associated with device underuse in the management of patients at risk for sudden cardiac death. We discuss factors related to reports in the United States, that the overall mortality attributed to CVD and the number of out-of-hospital cardiac arrests are higher among African American/Black subjects when compared with other racial or ethnic groups. African American/Black subjects are disproportionally affected by CVD, including cardiac arrhythmias and sudden cardiac death, thus highlighting a major concern in this population that remains underrepresented in clinical trials with limited genetic testing and device underuse. The proposed solutions include (1) early identification of genetic variants, which is crucial in tailoring a preventive management strategy; (2) inclusion of diverse racial or ethnic groups in clinical trials; (3) compliance with guideline-directed medical treatment and referral to cardiovascular subspecialists; and (4) training and mentoring of underrepresented junior faculty in cardiovascular health disparities research.
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