Exploring the genetic aetiology of dilated cardiomyopathy in young Africans using next-generation sequencing: barriers and pathways to clinical implementation – a narrative review

Abstract

Dilated cardiomyopathy (DCM) is a leading cause of heart failure in sub-Saharan Africa, where it frequently presents in the first two decades of life. Despite strong evidence for a genetic contribution, African populations remain profoundly underrepresented in genomic research, limiting variant interpretation and the clinical utility of next-generation sequencing (NGS). Methodology: Systematic search of relevant databases (e.g., PubMed, Web of Science, or EBSCOhost) using keywords, a combination of keywords, and controlled vocabulary (like MeSH terms). Results: This perspective review synthesises recent advances in understanding the genetic architecture of DCM in individuals of African ancestry, including the discovery of ancestry-specific risk variants, and critically examines the systemic barriers that prevent the translation of genomic knowledge into paediatric and young-adult clinical care.
Conclusion: We propose a stepwise framework for clinically actionable genetic testing for DCM in subSaharan Africa that encompasses tiered, cost-effective sequencing strategies, supervised task-sharing for genetic counselling, workforce development, and continental data-sharing networks. Implementing this framework would accelerate the transition of NGS from a research tool to an integrated component of cardiovascular precision medicine for children and young adults in the region.