Mouse Models of Congenital Heart Disease

Congenital heart disease (CHD), a highly prevalent human disorder occurring in approximately 1% of live births, results from abnormal embryonic cardiac morphogenesis and usually involves defects in structural components of the developing heart and vessel [1]. Additionally, in infants there is a wide spectrum of congenital heart defects and 3 per 1000 live births will require an intervention (such as surgical) during the first year of life. Although many advances have been made with palliative and corrective surgery which has increased manifold the survival of children with congenital heart defects, CHD still remains the leading cause of death in children with congenital malformation. Separation of the pulmonary circulation from the systemic circulation is a crucial step in the development of the mature heart and its failure to properly separate results in cardiac outflow tract (OFT) defects and account for up to one third of congenital heart disease cases [1]. Therefore understanding the regulatory events and signaling pathways that regulate OFT formation is a major goal of research into the etiology of CHD.