Next generation sequencing in dilated cardiomyopathy: utility and challenges in the African context

Dilated cardiomyopathy (DCM) is a leading cause of heart failure worldwide and has a disproportionately high burden among young Africans. As a primary myocardial disorder, DCM frequently has a genetic aetiology. Although Africa harbours the greatest human genetic diversity, African populations remain underrepresented in genomic research, limiting variant interpretation and clinical applications of next-generation sequencing (NGS). Next Generation Sequencing has transformed the understanding of DCM by enabling comprehensive identification of disease-associated genes. This narrative review summarizes the clinical utility of NGS in the diagnosis, risk stratification, and management of DCM, with a particular focus on Africa. We also highlight some key barriers to implementation, clinical implications, and potential strategies to overcome them. Addressing these challenges through expanded African genomic research, strengthened local capacity, and equitable international collaborations is essential to advance precision cardiovascular medicine and improve outcomes for patients with DCM in Africa.

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Publication Details

Journal
Frontiers in Cardiovascular Medicine
Published
2026-01-19
DOI
https://doi.org/10.3389/fcvm.2025.1717936
Primary Topic
Cardiomyopathy and Myosin Studies
Type
article
Field-Weighted Citation Impact
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article

Next generation sequencing in dilated cardiomyopathy: utility and challenges in the African context

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Next generation sequencing in dilated cardiomyopathy: utility and challenges in the African context

Phelelani Thokozani Mpangase, Nonkanyiso Mboweni, Dineo Mpanya, Umar Adamu, Nqoba Israel tsabedze, Zané Lombard, Joel Amoni, Minenhle Mayisela
article en

Abstract

Dilated cardiomyopathy (DCM) is a leading cause of heart failure worldwide and has a disproportionately high burden among young Africans. As a primary myocardial disorder, DCM frequently has a genetic aetiology. Although Africa harbours the greatest human genetic diversity, African populations remain underrepresented in genomic research, limiting variant interpretation and clinical applications of next-generation sequencing (NGS). Next Generation Sequencing has transformed the understanding of DCM by enabling comprehensive identification of disease-associated genes. This narrative review summarizes the clinical utility of NGS in the diagnosis, risk stratification, and management of DCM, with a particular focus on Africa. We also highlight some key barriers to implementation, clinical implications, and potential strategies to overcome them. Addressing these challenges through expanded African genomic research, strengthened local capacity, and equitable international collaborations is essential to advance precision cardiovascular medicine and improve outcomes for patients with DCM in Africa.

Frontiers in Cardiovascular MedicineVol. 12
National Health Laboratory Service (ZA), University of the Witwatersrand (ZA), Molecular Sciences Institute (US)
Partnerships for the goals
Openalex Percentile: Top 85%
Cardiomyopathy and Myosin Studies
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