Long QT syndrome (LQTS) is an inherited arrhythmic disorder associated with sudden
cardiac death (SCD). This study aimed to identify the clinical and molecular genetic risk factors that
contribute to major arrhythmic events (MAEs) in patients with genetically confirmed childhood onset
LQTS 1–3. This study was a retrospective double-center study. An MAE was defined as the occurrence
of SCD, aborted SCD, appropriate implantable cardioverter defibrillator discharge, or sustained
ventricular tachycardia. During a median follow-up of 4.6 years (range 0.1–24.3 years), MAEs occurred
in 18 (17.8%) of 101 patients diagnosed with LQTS at a median of 7.7 years (range 0.0–18.0 years)
despite the use of beta-blockers in 91.6% of patients at the last follow-up. A multivariate analysis
identified a genetic diagnosis of LQTS2 and LQTS3 and variants within the KCNH2 S5-loop-S6
pore region as independent risk factors for MAEs, independent of the QTc value or a history of
syncope detected from a univariate analysis. MAEs occur frequently in childhood onset LQTS despite
beta-blocker treatment. A detailed molecular genetic diagnosis can contribute to the arrhythmia risk
stratification and optimize the use of preventive measures in this vulnerable patient population
| Identifer | oai:union.ndltd.org:DRESDEN/oai:qucosa:de:qucosa:89166 |
| Date | 20 January 2024 |
| Creators | Burkard, Tobias, Westphal, Dominik Sebastian, Markel, Franziska, Gebauer, Roman Antonin, Hessling, Gabriele, Wolf, Cordula Maria |
| Publisher | MDPI |
| Source Sets | Hochschulschriftenserver (HSSS) der SLUB Dresden |
| Language | English |
| Detected Language | English |
| Type | info:eu-repo/semantics/publishedVersion, doc-type:article, info:eu-repo/semantics/article, doc-type:Text |
| Rights | info:eu-repo/semantics/openAccess |
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