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 Cardiology2016
Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.
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, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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34 citing papers in PubMed, 80 citations in OpenAlex.
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- Whole-exome sequencing to identify causative variants in juvenile sudden cardiac death.Human genomics · 2024Article
- 2024 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2024Review
- Sudden death in epilepsy: the overlap between cardiac and neurological factors.Brain communications · 2024Review
- From gene-discovery to gene-tailored clinical management: 25 years of research in channelopathies and cardiomyopathies.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 · 2023Article
- Whole exome sequencing of FFPE samples-expanding the horizon of forensic molecular autopsies.International journal of legal medicine · 2023Article
- Heart Disease and Stroke Statistics-2023 Update: A Report From the American Heart Association.Circulation · 2023Review
- Molecular autopsy in sudden cardiac death.Global cardiology science & practice · 2023Review
- Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death.Frontiers in medicine · 2023Review
- Discerning the Ambiguous Role of MissenseJournal of personalized medicine · 2022Article
- Genetics and genomics of arrhythmic risk: current and future strategies to prevent sudden cardiac death.Nature reviews. Cardiology · 2021Review
- Molecular Autopsy of Sudden Cardiac Death in the Genomics Era.Diagnostics (Basel, Switzerland) · 2021Review
- Genetic investigations of 100 inherited cardiac disease-related genes in deceased individuals with schizophrenia.International journal of legal medicine · 2021Article
- Diagnostic Yield of Genetic Testing in Sudden Cardiac Death with Autopsy Findings of Uncertain Significance.Journal of clinical medicine · 2021Article
- Heart Disease and Stroke Statistics-2021 Update: A Report From the American Heart Association.Circulation · 2021Article
- The Hidden Fragility in the Heart of the Athletes: A Review of Genetic Biomarkers.International journal of molecular sciences · 2020Review
- Clinical and genetic evaluation after sudden cardiac arrest.Journal of cardiovascular electrophysiology · 2020Review
- Clinical impact of post-mortem genetic testing in cardiac death and cardiomyopathy.Open medicine (Warsaw, Poland) · 2020Article
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Authors and funding
28 authors at 10 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimsThe targeted genetic screening of Sudden Arrhythmic Death Syndrome (SADS) probands in a molecular autopsy has a diagnostic yield of up to 35%. Exome sequencing has the potential to improve this yield. The primary aim of this study is to examine the feasibility and diagnostic utility of targeted exome screening in SADS victims, utilizing familial clinical screening whenever possible. METHODS AND
resultsTo determine the feasibility and diagnostic yield of targeted exome sequencing deoxyribonucleic acid (DNA) was isolated from 59 SADS victims (mean age 25 years, range 1-51 years). Targeted exome sequencing of 135 genes associated with cardiomyopathies and ion channelopathies was performed on the Illumina HiSeq2000 platform. Non-synonymous, loss-of-function, and splice-site variants with a minor allele frequency <0.02% in the NHLBI exome sequencing project and an internal set of control exomes were prioritized for analysis followed by <0.5% frequency threshold secondary analysis. First-degree relatives were offered clinical screening for inherited cardiac conditions. Seven probands (12%) carried very rare (<0.02%) or novel non-sense candidate mutations and 10 probands (17%) had previously published rare (0.02-0.5%) candidate mutations-a total yield of 29%. Co-segregation fully confirmed two private SCN5A Na channel mutations. Variants of unknown significance were detected in a further 34% of probands.
conclusionMolecular autopsy using targeted exome sequencing has a relatively low diagnostic yield of very rare potentially disease causing mutations. Candidate pathogenic variants with a higher frequency in control populations are relatively common and should be interpreted with caution.
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