Why the study?
Genetically elusive cardiac channelopathy cases can carry copy number variants that require specific detection tools beyond routine single-nucleotide variant testing.
Population
119 patients from the literature and 21 from an internal cohort with CNVs in KCNQ1, KCNH2, SCN5A, and RYR2
Design
Literature review and internal cohort study
Key result
Copy number variants in cardiac channelopathy genes were identified in 140 patients, with all KCNH2 variant carriers exhibiting a Long QT phenotype > 480 ms.
Authors
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Suggests CNV detection may refine risk stratification in channelopathies; leaves open whether routine screening alters management or outcomes.
Observational (n=140)
Detection of copy number variants provides important diagnostic yield in genetically elusive cardiac channelopathies, particularly in familial cases and suspected Jervell and Lange-Nielsen syndrome or CPVT.
Gnazzo et al. (2024) conducted an observational in Inherited cardiac channelopathies (n=140). Copy number variants (CNVs) in KCNQ1, KCNH2, SCN5A, and RYR2 was evaluated on Phenotypic presentation and cardiac events. Copy number variants in cardiac channelopathy genes were identified in 140 patients, with all KCNH2 variant carriers exhibiting a Long QT phenotype > 480 ms.