Human pluripotent stem cells to model congenital heart disease

Abstract

Congenital heart disease (CHD) is the most common cause of neonatal mortality related to birth defects. Etiology is multifactorial including genetic and/or environmental causes. The genetic etiology is known in less than 20 % cases. Animal studies have identified genes involved in cardiac development. However, generating cardiac phenotypes usually requires complete gene knockdown in animal models which does not reflect the haplo-insufficient model commonly seen in human CHD. Human pluripotent stem cells which include human embryonic stem cells (hESC) and human-induced pluripotent stem cells (hiPSC) provide a unique in vitro platform to study human "disease in a dish" by providing a renewable resource of cells that can be differentiated into virtually any somatic cell type in the body. This chapter will discuss the use of human pluripotent stem cells to model human CHD.