(2026) Long QT Syndrome Type 5 With Coexisting KCNE1 and RYR2 Variants: A Diagnostic Ambiguity. Clinical Case Reports. p. 5. ISSN 2050-0904
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Abstract
Long QT syndrome (LQTS) predisposes to syncope and sudden cardiac death. Type 5 LQTS, linked to KCNE1 variants, is rare. A teenage female presented with recurrent syncope. ECG showed QTc 485 ms. Genetic testing identified KCNE1 and RYR2 variants. Beta-blockers and ICD prevented events. The case highlights diagnostic and genotype-phenotype challenges.
| Item Type: | Article |
|---|---|
| Keywords: | KCNE1 long QT syndrome RYR2 syncope ventricular-arrhythmias management mutations genetics General & Internal Medicine |
| Page Range: | p. 5 |
| Journal or Publication Title: | Clinical Case Reports |
| Journal Index: | ISI |
| Volume: | 14 |
| Number: | 6 |
| Identification Number: | https://doi.org/10.1002/ccr3.72741 |
| ISSN: | 2050-0904 |
| Depositing User: | خانم ناهید ضیائی |
| URI: | http://eprints.mui.ac.ir/id/eprint/33868 |
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