Late Diagnosis of Jervell and Lange-Nielsen Syndrome in Two Sisters with Homozygous KCNQ1 Mutation
| dc.contributor.author | Kocaekiz, Peruze | |
| dc.contributor.author | Tokgun, Onur | |
| dc.contributor.author | Yilmaz, Samet | |
| dc.date.accessioned | 2026-04-21T11:01:06Z | |
| dc.date.available | 2026-04-21T11:01:06Z | |
| dc.date.issued | 2026-04-06 | |
| dc.description.abstract | Jervell and Lange-Nielsen syndrome is a rare inherited disorder characterised by sensorineural hearing loss and a prolonged corrected QT interval, predisposing to malignant arrhythmias. We describe two adult sisters diagnosed after recurrent syncope. Genetic testing confirmed a homozygous KCNQ1 mutation. Awareness of this condition, even in adulthood, is essential to ensure diagnosis, appropriate treatment, and prevention of sudden cardiac death. | |
| dc.identifier.doi | 10.1017/S1047951126112050 | |
| dc.identifier.issn | 1047-9511 | |
| dc.identifier.issn | 1467-1107 | |
| dc.identifier.scopus | 2-s2.0-105035685426 | |
| dc.identifier.uri | https://hdl.handle.net/11499/68645 | |
| dc.identifier.uri | https://doi.org/10.1017/S1047951126112050 | |
| dc.language.iso | en | |
| dc.publisher | Cambridge Univ Press | |
| dc.relation.ispartof | Cardiology in the Young | |
| dc.rights | info:eu-repo/semantics/openAccess | |
| dc.subject | Jervell and Lange-Nielsen Syndrome | |
| dc.subject | Ventricular Arrhythmia | |
| dc.subject | Congenital Long QT Syndrome | |
| dc.title | Late Diagnosis of Jervell and Lange-Nielsen Syndrome in Two Sisters with Homozygous KCNQ1 Mutation | |
| dc.type | Article | |
| dspace.entity.type | Publication | |
| gdc.author.scopusid | 58808153400 | |
| gdc.author.scopusid | 60578971500 | |
| gdc.author.scopusid | 36961438000 | |
| gdc.coar.access | open access | |
| gdc.coar.type | text::journal::journal article | |
| gdc.description.department | Pamukkale University | |
| gdc.description.departmenttemp | [Kocaekiz, Peruze; Yilmaz, Samet] Pamukkale Univ, Cardiol, Denizli, Turkiye; [Tokgun, Onur] Pamukkale Univ, Med Genet, Denizli, Turkiye | |
| gdc.description.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | |
| gdc.description.woscitationindex | Science Citation Index Expanded | |
| gdc.identifier.pmid | 41940510 | |
| gdc.identifier.wos | WOS:001732852900001 | |
| gdc.index.type | PubMed | |
| gdc.index.type | WoS | |
| gdc.index.type | Scopus | |
| relation.isAuthorOfPublication.latestForDiscovery | 09945f73-eefb-48e3-b541-33d2a2ee08da | |
| relation.isOrgUnitOfPublication.latestForDiscovery | d36e3b46-ac9c-4c78-b0cd-35eab8b6a192 |
Files
Original bundle
1 - 1 of 1