Author(s) :

Julia Shante Petri, Emilian Christopher Stamatopoulos.

Volume/Issue :

Abstract :

Hypertrophic cardiomyopathy (HCM) is a heritable cardiovascular disorder marked by abnormal thickening of the heart muscle, leading to left ventricular outflow tract obstruction and compromised blood flow. It is associated with a range of symptoms including arrhythmias, chest pain, and sudden cardiac death, with no current effective treatments available. The pathogenic mechanisms underlying HCM remain elusive and induced pluripotent stem cells (iPSCs) reprogrammed from patient somatic cells have emerged as a powerful tool for uncovering pathogenic mechanisms of HCM. This review examines recent advancements in the iPSC-based HCM modeling and highlights how isogenic iPSCs generated by Crispr/Cas9 overcome genetic background variability associated with the traditional iPSC-HCM models. Isogenic iPSCs not only enhance our understanding of single-causative genetic mechanisms of HCM but also will offer potential insights into complex cases involving multiple genetic mutations in the future.