Abstract
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.
Highlights
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]
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]
In following few examples it is described here how identification of genes that cause familial or syndrome associated cardiovascular defects in humans has led to the creation of mouse models using gene ablation and alterations of gene function to understand how the gene products play a role in development of the cardiovascular system
Summary
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]. Gene expression studies have revealed that CNCCs and SHF contribute towards the OFT formation and perturbation of either CNC or SHF leads to a spectrum of congenital heart defects, ranging from a failure of heart tube extension, arterial pole alignment defects, double outlet right ventricle (DORV), ventricular septal defect (VSD), persistent truncus arteriosus (PTA) and tetralogy of fallot [5,6]. Tbx5is expressed in the regions of the developing heart and heterozygote mutations in Tbx display ASD, VSD, left ventricular malformation and cardiac conduction defects [16,17]
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