Modeling Congenital Heart Disease Using Pluripotent Stem Cells

Congenital heart disease (CHD) represents a major class of birth defects worldwide and is associated with cardiac malformations that often require immediate surgery upon birth. Significant efforts are underway to better understand how CHD manifests through basic science approaches. Recently, human-induced pluripotent stem cells (hiPSCs) have emerged as a means by which to interrogate CHD phenotypes mechanistically. PURPOSE OF REVIEW: To review recent studies and results utilizing hiPSCs and their cardiovascular derivative cell types to better understand the mechanisms for various forms of CHD. RECENT FINDINGS: Recent studies demonstrate that hiPSC-derived cardiomyocytes can replicate the genetic and epigenetic abnormalities that ultimately lay the cellular foundation for CHD phenotypes. Such irregularities manifest in vitro through defects in hiPSC differentiation, signaling, and transcriptional activity. Use of hiPSC-derived cells to understand CHD may ultimately lead to the development of preemptive screening approaches to identify CHD early in utero and innovative therapies to alleviate symptoms after birth.