Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review

JACC Basic Transl Sci. 2025 Apr;10(4):511-546. doi: 10.1016/j.jacbts.2024.10.017. Epub 2025 Jan 15.

Abstract

To advance research in hypertrophic cardiomyopathy (HCM), and guide researchers in choosing the optimal model to answer their research questions, we performed a systematic review of all models investigating HCM induced by gene variants ranging from animal models to human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs). Our research question entailed: which experimental models of HCM have been created thus far, and which major hallmarks of HCM do they present? Out of the 603 included papers, the majority included animal models, though a clear transition to hiPSC-CM is visible since 2010. Our review showed that only 36 mouse models showed minimal 4 out of 6 HCM disease markers (cell/cardiac hypertrophy, disarray, fibrosis, diastolic dysfunction, and arrhythmias), while only 17 hiPSC-CM models showed 3 out of 4 HCM cell characteristics. Our review emphasizes the need to better report data on sample size, sex, age, and relevant disease-specific characteristics.

Keywords: animal models; human iPSC-derived cardiomyocytes; hypertrophic cardiomyopathy; stem cells; systematic review.

Publication types

  • Review