ArticleClinical case reports2026
Long QT Syndrome Type 5 With Coexisting KCNE1 and RYR2 Variants: A Diagnostic Ambiguity.
Article in Clinical case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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5 authors.
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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.
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