ArticleEuropean journal of human genetics : EJHG2018
Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- Functional Profiling ofCirculation. Genomic and precision medicine · 2025Article
- Postmortem Diagnosis of Dilated Cardiomyopathy: A Systematic Review Revisiting Fundamentals.Diagnostics (Basel, Switzerland) · 2025Review
- A combined genomic arrhythmia propensity score delineates cumulative risk.Cell reports. Medicine · 2025Article
- The Diagnostic Value of Copy Number Variants in Genetic Cardiomyopathies and Channelopathies.Journal of cardiovascular development and disease · 2025Review
- Appropriate time interval to update ambiguous genetic diagnosis in inherited arrhythmogenic syndromes.iScience · 2025Article
- Catecholaminergic Polymorphic Ventricular Tachycardia: Clinical Characteristics, Diagnostic Evaluation and Therapeutic Strategies.Journal of clinical medicine · 2024Review
- Role of Genetics in Diagnosis and Management of Hypertrophic Cardiomyopathy: A Glimpse into the Future.Biomedicines · 2024Review
- EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias.European journal of human genetics : EJHG · 2023Review
- Application of next generation sequencing in cardiology: current and future precision medicine implications.Frontiers in cardiovascular medicine · 2023Review
- Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population.Biomedicines · 2022Review
- Novel Indel Variation of NPC1 Gene Associates With Risk of Sudden Cardiac Death.Frontiers in genetics · 2022Article
- The clinical utility of pediatric cardiomyopathy genetic testing: From diagnosis to a precision medicine-based approach to care.Progress in pediatric cardiology · 2021Article
- Review
- Re-evaluation of single nucleotide variants and identification of structural variants in a cohort of 45 sudden unexplained death cases.International journal of legal medicine · 2021Article
- Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center's Experience Over 5 Years.Molecular diagnosis & therapy · 2021Article
- Malignant Arrhythmogenic Role Associated withJournal of personalized medicine · 2021Review
- Genetic testing in sudden unexpected natural death in the young: New York City Office of Chief Medical Examiner's experience and perspective.Forensic science, medicine, and pathology · 2019Article
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Authors and funding
31 authors.
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Abstract
Several studies have identified copy number variants (CNVs) as responsible for cardiac diseases associated with sudden cardiac death (SCD), but very few exhaustive analyses in large cohorts of patients have been performed, and they have been generally focused on a specific SCD-related disease. The aim of the present study was to screen for CNVs the most prevalent genes associated with SCD in a large cohort of patients who suffered sudden unexplained death or had an inherited cardiac disease (cardiomyopathy or channelopathy). A total of 1765 European patients were analyzed with a homemade algorithm for the assessment of CNVs using high-throughput sequencing data. Thirty-six CNVs were identified (2%), and most of them appeared to have a pathogenic role. The frequency of CNVs among cases of sudden unexplained death, patients with a cardiomyopathy or a channelopathy was 1.4% (8/587), 2.3% (20/874), and 2.6% (8/304), respectively. Detection rates were particularly high for arrhythmogenic cardiomyopathy (5.1%), long QT syndrome (4.7%), and dilated cardiomyopathy (4.4%). As such large genomic rearrangements underlie a non-neglectable portion of cases, we consider that their analysis should be performed as part of the routine genetic testing of sudden unexpected death cases and patients with SCD-related diseases.
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