Stephanie M van der Voorn, Esmée van Drie, Virginnio Proost, Kristina Dimitrova, Netherlands Acm/Pln Registry, Robert F Ernst, Cynthia A James, Crystal Tichnell, Brittney Murray, Hugh Calkins, Ardan M Saguner, Firat Duru, Patrick T Ellinor, Connie R Bezzina, Sean J Jurgens, J Peter van Tintelen, Toon A B van Veen
Inherited forms of arrhythmogenic and dilated cardiomyopathy (ACM and DCM) are characterized by variable disease expression and age-related penetrance. Calcium (Ca2+ ) is crucially important for proper cardiac function, and dysregulation of Ca2+ homeostasis seems to underly cardiomyopathy etiology. A polymorphism, c.286T>G p.(Ser96Ala), in the gene encoding the histidine-rich Ca2+ binding (HRC) protein, relevant for sarcoplasmic reticulum Ca2+ cycling, has previously been associated with a marked increased risk of life-threatening arrhythmias among idiopathic DCM patients...
November 3, 2023: International Journal of Molecular Sciences