ArticleEuropace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology2026
The evaluation of copy number variants in an unselected population of patients with inherited cardiac conditions: the INTERACTION study.
Article in Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology, 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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Abstract
aimsThe current diagnostic approach to inherited cardiac conditions (ICCs) is primarily focused on the analysis of single-nucleotide variants (SNVs) and small insertions/deletions (InDels). However, as recommended for other inherited diseases, the analysis of Copy Number Variants (CNVs) should be equally considered. In cardiology, the diagnostic contribution of CNVs remains insufficiently studied, with limited evidence and no standardized recommendations for analytical workflows. This study aims to assess the prevalence of pathogenic CNVs in an Italian multicentre cohort of ICC patients, providing recommendations for integrating CNV analysis into routine genetic testing. METHODS AND
resultsA total of 203 ICC probands with prior negative or inconclusive results for SNVs and InDels testing were included. The tertiary bioinformatic analysis was performed by eVai enGenome software, and putative CNVs were validated by Multiplex Ligation-dependent Probe Amplification (MLPA) assays. MLPA confirmed only one of the five initially suspected CNVs, identifying a deletion in MYBPC3 gene classified as pathogenic according to ACMG/AMP guidelines. This result confirmed a limited diagnostic yield of 0.50%. Considering the substantial costs, time constraints, and specialized expertise required, we propose a strategy to prioritize selected ICC patients for CNV analysis.
conclusionEvidence from this real-world cohort suggests the incorporation of CNV analysis as a second-tier test in patients with ICC and specific clinical or molecular indications.
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