ArticleGenes2026
A Complex Arrhythmic Phenotype in a Pediatric Patient with Variants in
Article in Genes, 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 type 2 (LQT2) and Brugada syndrome are inherited cardiac channelopathies that predispose affected individuals to ventricular arrhythmias and sudden cardiac death. We report the case of a 15-year-old male carrying two pathogenic variants: one in SCN5A and one in KCNH2, genes classically associated with Brugada syndrome and LQT2, respectively. The patient presented with an atypical phenotype characterized predominantly by atrial arrhythmias, atrioventricular (AV) conduction abnormalities, and wide complex tachycardia and sinus node disease without the characteristic electrocardiographic features of either syndrome. The phenotype was most likely driven predominantly by the SCN5A variant. Given his unpredictable episodes of high-grade conduction block and potential risk of ventricular arrhythmias, a transvenous implantable cardioverter-defibrillator (ICD) was implanted. Family screening revealed segregation of
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