Arytmogenní dopad varianty Y4734C v genu RYR2 asociované s idiopatickou fibrilací komor: analýza využívající pacient-specifické kardiomyocyty

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Title in English Arrhythmogenic influence of Y4734C variant in RYR2 associated with idiopathic ventricular fibrillation: analysis using patient-specific cardiomyocytes.
Authors

KRÁL Martin ZELENÁK Štefan ŠVECOVÁ Olga PACHERNÍK Jiří BÁRTA Tomáš ZÍDKOVÁ Jana LIETAVA Samuel NOVOTNÝ Tomáš BÉBAROVÁ Markéta

Year of publication 2025
Type Conference abstract
MU Faculty or unit

Faculty of Medicine

Citation
Description Cell lines were obtained from three sources: a patient with idiopathic ventricular fibrillation (IF), his sister with catecholaminergic polymorphic ventricular tachycardia (CPVT), and a control line from the patient's nephew (WT). When exposed to ß-adrenergic stimulation, all three cell lines showed the expected response—a shortened cycle length (CL) and field potential duration (FPD). Under control conditions, the WT control cells maintained a more consistent beating rhythm compared to the IF cells. When arrhythmogenic conditions accumulated, nearly all IF samples stopped functioning, highlighting the severe nature of the pathology in the patient with idiopathic ventricular fibrillation.
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