Abstract:
Congenital heart defects (CHD) are structural malformations found at birth with a prevalence of 1%. The
clinical trajectory of CHD is highly variable and thus in need of robust diagnostics and therapeutics. Major
surgical interventions are often required for most CHDs. In Africa, despite advances in life sciences infra-
structure and improving education of medical scholars, the limited clinical data suggest that CHD detection and
correction are still not at par with the rest of the world. But the toll and genetics of CHDs in Africa has seldom
been systematically investigated. We present an expert review on CHD with lessons learned on Africa. We
found variable CHD phenotype prevalence in Africa across countries and populations. There are important gaps
and paucity in genomic studies of CHD in African populations. Among the available genomic studies, the key
findings in Africa were variants in GATA4 (P193H), MTHFR 677TT, and MTHFR 1298CC that were associated
with atrial septal defect, ventricular septal defect (VSD), Tetralogy of Fallot (TOF), and patent ductus arteriosus
phenotypes and 22q.11 deletion, which is associated with TOF. There were no data on epigenomic association
of CHD in Africa, however, other studies have shown an altered expression of miR-421 and miR-1233-3p to be
associated with TOF and hypermethylation of CpG islands in the promoter of SCO2 gene also been associated
with TOF and VSD in children with non-syndromic CHD. These findings signal the urgent need to develop and
implement genetic and genomic research on CHD to identify the hereditary and genome–environment inter-
actions contributing to CHD. These projected studies would also offer comparisons on CHD pathophysiology
between African and other populations worldwide. Genomic research on CHD in Africa should be developed in
parallel with next generation technology policy research and responsible innovation frameworks that examine
the social and political factors that shape the emergence and societal embedding of new technologies.
