Grant: Project Grant

Congenital Heart Defects (CHDs) are a leading cause of infant illness and death, affecting 1 in 80-100 Canadian children, and causing significant disability in youth and adults. However, the causes of CHDs remain unclear in most cases. Despite a strong connection between the development of placenta and heart, the role of placental dysfunction in CHD has not been well investigated in a clinical population. We aim to identify molecular alterations occurring in the placenta that can in turn cause CHDs. First, we will determine how often certain genetic changes that are present only in placental tissues are found in pregnancies diagnosed with CHDs. Such cases show that poor placental function, in the absence of any other factor, can cause CHDs. Secondly, we will apply molecular tools we have developed to identify and quantify abnormal changes to the placenta, to better define the type and extent of pathology associated with CHDs. Lastly, we will combine different types of data and focus on candidate functional regions/genes, as a complementary approach to identify placental changes linked to CHDs. Understanding how CHDs arise is a critical step in developing strategies for their prevention, treatment, and predicting long-term outcomes for babies born with CHDs.