David C Lennermann, Mark E Pepin, Markus Grosch, Laura Konrad, Elena Kemmling, Joshua Hartmann, Janica L Nolte, Sandra Clauder-Münster, Elham Kayvanpour, Farbod Sedaghat-Hamedani, Jan Haas, Benjamin Meder, Malou van den Boogaard, Ahmad S Amin, Matthias Dewenter, Marcus Krüger, Lars M Steinmetz, Johannes Backs, Maarten M G van den Hoogenhof
RBM20 cardiomyopathy is an arrhythmogenic form of dilated cardiomyopathy caused by mutations in the splicing factor RBM20. A recent study found a more severe phenotype in male patients with RBM20 cardiomyopathy patients than in female patients. Here, we aim to determine sex differences in an animal model of RBM20 cardiomyopathy and investigate potential underlying mechanisms. In addition, we aim to determine sex and gender differences in clinical parameters in a novel RBM20 cardiomyopathy patient cohort. We characterized an Rbm20 knockout (KO) mouse model, and show that splicing of key RBM20 targets, cardiac function, and arrhythmia susceptibility do not differ between sexes...
December 1, 2022: American Journal of Physiology. Heart and Circulatory Physiology