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Congenital heart disease (CHD) is the most common birth defect, accounting for about one-quarter of birth defects resulting in mortality.1 Aetiology for the majority of CHD remains unknown, but is thought to be multifactorial with genetic and environmental (non-genetic) contributors. Advances in molecular biology and genetic technologies have aided identification of genetic contributors for CHD. Increasing numbers of genomic abnormalities have been discovered in individuals with CHD using next-generation sequencing and array-based methodologies.2 While great strides have been made, genetic aetiologies are identified in only a subset of CHD.2
Epidemiological studies have demonstrated associations …
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