Změny v elektrické aktivitě varianty Y4734C-RYR2 asociované s idiopatickou fibrilací komor.
| Title in English | Changes in the electrical activity of the Y4734C-RYR2 variant associated with idiopathic ventricular fibrillation |
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| Authors | |
| Year of publication | 2022 |
| Type | Conference abstract |
| MU Faculty or unit | |
| Citation | |
| Description | Surprisingly, life-threatening arrhythmias of ventricular fibrillation (VF) can occur even in patients without structural changes in the heart and without signs of any arrhythmia on clinical examination (magnetic resonance imaging, echocardiography, electrocardiography at rest and after exercise). Such a condition leads to the diagnosis of idiopathic VF and to great uncertainty regarding the possible recurrence of a VF attack in the future. These patients are implanted with a defibrillator as secondary prevention of VF. As it turns out, the underlying cause of idiopathic VF in at least some patients may be genetic variants in cardiac ion channels. The question remains how these variants lead to VF when their influence on cardiac electrophysiology is not apparent on standard clinical examination of the patient. The only solution is a thorough functional analysis of the variants found. In this study, a variant in the RYR2 gene, p.Y4734C-RYR2, was selected for functional analysis. Similar variants usually lead to the manifestation of catecholaminergic polymorphic ventricular tachycardia (CPVT), which manifests as arrhythmias during exercise. |
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