Deep phenotyping of two preclinical mouse models and a cohort of RBM20 mutation carriers reveals no sex-dependent disease severity in <i>RBM20</i> cardiomyopathy
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
Abstract
Optimal management of the cardiac disease is increasingly personalized, partly because of differences in outcomes between sexes. RBM20 cardiomyopathy has been described to be more severe in male patients, and this carries the risk that male patients are more scrutinized in the clinic than female patients. Our findings do not support this observation and suggest that treatment should not differ between male and female RBM20 cardiomyopathy patients, but instead should focus on the underlying disease mechanism.