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Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa.


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 infrastructure 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

SUBMITTER: Thomford NE 

PROVIDER: S-EPMC6016577 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature