An 8-year-old boy suffered from an unconsciousness attack and torsade de pointes arrhythmia during sleep or at rest. His electrocardiogram showed prolonged QT intervals, but the T wave morphology was atypical for type 1, 2 or 3 congenital long-QT syndrome (LQTS). Intravenous epinephrine slightly prolonged the QT interval whereas mexiletine infusion shortened the QT interval. Although these clinical characteristics might suggest type 3 LQTS, a genetic analysis identified the G604S-KCNH2 mutation (type 2 LQTS). Because mismatches between the genotype and phenotype of LQTS are possible, genetic analysis of LQTS is important to identify the most appropriate therapeutic option and risk stratification.
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- Guideline-directed therapy for LQTS has changed, with varying ICD recommendations depending on cardiac societies.
- A study analyzed 2861 patients with LQT types to see who met the 2022 guidelines for ICDs and compared outcomes for those with and without an ICD.
- Results showed that while many patients met recommendations for ICDs, more than half did not receive one, and those without an ICD had significantly fewer cardiac events than those with one.
[Clinical and genetic analysis of a Chinese pedigree affected with type 2 Long QT syndrome due to variant of KCNH2 gene].
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