Targeted resequencing of genes associated with long QT syndrome in Czech patients: two newly identified likely pathogenic variants in previously investigated patient with negative results
| Autoři | |
|---|---|
| Rok publikování | 2019 |
| Druh | Konferenční abstrakty |
| Fakulta / Pracoviště MU | |
| Citace | |
| Popis | Long QT syndrome (LQTS) is a hereditary arrhythmic syndrome characterized by abnormal prolongation of QT interval, increased risk of malignant ventricular arrhythmias and sudden death. With the prevalence 1:2000 it is the most often diagnosed arrhythmogenic disorder. At least 15 LQTS-related genes have been identified so far, nevertheless 75% of mutations are found in 3 major genes (KCNQ1, KCNH2 and SCN5A). Here we report identification of likely pathogenic variants in patient previously investigated with negative results. |
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