Genetické varianty asociované s idiopatickou fibrilací komor: role dysfunkce RYR2 kanálu
| Title in English | Genetic variants associated with idiopathic ventricular fibrillation: the role of RYR2 channel dysfunction |
|---|---|
| Authors | |
| Year of publication | 2022 |
| Type | Conference abstract |
| MU Faculty or unit | |
| Citation | |
| Description | Population studies have confirmed the significant contribution of genetic predisposition to sudden cardiac death. This also seems to be true for idiopathic ventricular fibrillation (VF), which may serve as a suitable model for studying the pathogenesis of sudden cardiac death. Idiopathic FK is characterized by the occurrence of FK in a patient without signs of structural damage and also without clinical signs of any of the hereditary arrhythmia syndromes. Rare variants in genes encoding cardiac ion channels can be found in some of these patients, similar to the situation in hereditary arrhythmogenic syndromes, although this diagnosis has been ruled out in these patients. In our pilot study of the first 22 patients with idiopathic FC from the FN Brno registry, we found rare, potentially pathogenic variants in genes encoding cardiac ion channels in 13 patients; the most frequent variants were in the KCNH2 (4 patients) and RYR2 (5 patients) genes. |
| Related projects: |