{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nRBM20 is a critical cardiac splice‐regulator that orchestrates alternative splicing of multiple genes essential for proper myocardial function. Early genetic studies identified RBM20 as a determinant of titin isoform expression and a key contributor to dilated cardiomyopathy (DCM) when mutated. In fact, loss‐of‐function or missense mutations—especially those affecting the conserved arginine/serine–rich (RS) domain—lead to aberrant splicing of titin (TTN) and a network of other cardiomyopathy‐associated genes, ultimately impairing cardiac structure and function. These observations, emerging from gene discovery and transcriptome studies, firmly established RBM20 as a central mediator of post‐transcriptional regulation in the heart."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "8"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMechanistic studies using advanced models—including patient‐derived induced pluripotent stem cells and genetically engineered rodents—have demonstrated that RBM20 mutations disrupt splicing fidelity. Aberrant splicing of targets such as TTN, CAMK2D, and FHOD3 leads to disorganized sarcomere assembly, defective calcium handling, and altered myocardial biomechanics. Moreover, investigations have revealed that mutations can impair RBM20’s nuclear localization—often via aberrant phosphorylation of its RS domain—and provoke misassembly of ribonucleoprotein granules in the cytoplasm, thereby contributing to the complex molecular pathology observed in cardiomyopathies."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "9", "end_ref": "17"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nClinically, RBM20 mutations are now recognized as drivers of an aggressive, arrhythmogenic form of DCM and, in some instances, overlap with other cardiomyopathic phenotypes. Patients carrying pathogenic RBM20 variants frequently exhibit early‐onset heart failure, conduction system disease, and high incidences of ventricular arrhythmias. In parallel, studies have implicated dysregulated RBM20‐dependent splicing networks—and even defects in circular RNA formation—as potential contributors to altered cardiac remodeling. The emerging role of kinases (such as SRPK1, CLK1, and AKT2) in modulating RBM20 phosphorylation further suggests that targeted modulation of its splicing activity could hold therapeutic promise in mitigating the severe cardiac dysfunction associated with these mutations."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "18", "end_ref": "30"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Katharine M Brauch, Margaret L Karst, Kathleen J Herron, et al. 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