Congenital heart defects

Congenital heart defects (CHDs) are the most common type of birth defect worldwide. One million children each year are born with one or more CHDs, representing about 1% of children. Although the exact cause for most CHDs is unknown, susceptibility has been associated with maternal nutritional deficiency and genetic abnormalities in mothers and children. There is accumulating evidence that genetic and environmental interactions, mediated through epigenetics, play a critical role in CHD development.

This research will improve our understanding of epigenetic and genetic mechanisms underlying the development of CHDs by looking for biomarkers for susceptibility to CHDs, which can be tested early in cord blood during pregnancy, or even earlier in parents’ or grandparents’ genomes. Ultimately, it may be possible to identify important epigenetic and genetic variations that are the cause of CHDs.

Many environmental factors that are related to epigenetic changes are avoidable risk factors. the findings from this project will provide data supporting the development of potential prevention strategies for CHDs.

The specific aims of this project are to:

  • Investigate genome-wide DNA methylation in children with CHDs.
  • Investigate copy number variations and rare genetic alleles in children with CHDs.
  • Investigate microRNA biomarkers for CHDs.


This project is a collaborative effort involving researchers from different organisations in Perth, including:


  • Royal Perth Hospital Medical Research Foundation [2017], “Using whole genome sequencing to identify pathogenic copy number variants in children with congenital heart defects”

Selected publications

  • Song, Y., H. Higgins, J. Guo, K. Harrison, E. N. Schultz, B. J. Hales, E. K. Moses, J. Goldblatt, N. Pachter and G. Zhang (2018). “Clinical significance of circulating microRNAs as markers in detecting and predicting congenital heart defects in children.” Journal of Translational Medicine 16(1): 42. [pubmed]


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