ArticleEuropean heart journal2022
Importance of genetic testing in unexplained cardiac arrest.
Article in European heart journal, 2022. 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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Who cites it
34 citing papers in PubMed, 66 citations in OpenAlex.
- Molecular autopsy in unexplained sudden death: a systematic review and meta-analysis of ACMG-corrected diagnostic yield, genomic architecture, and family translation.International journal of legal medicine · 2026Review
- Genetic Reassessment Reveals Catecholaminergic Polymorphic Ventricular Tachycardia in Sisters Initially Diagnosed With Long QT Syndrome.JACC. Case reports · 2026Article
- Gene Therapy for Cardiovascular and Cerebrovascular Disease: Mechanisms, Translational Barriers, and the Road Ahead.Biomedicines · 2026Review
- A combined genomic arrhythmia propensity score delineates cumulative risk.Cell reports. Medicine · 2025Article
- [Molecular autopsy: post-mortem genetic testing following sudden cardiac death].Innere Medizin (Heidelberg, Germany) · 2025Article
- China Multi-Center Cohort Study on Risk Evaluation of Arrhythmogenic Cardiomyopathy: The ChinaCORE ACM Registry.JACC. Asia · 2025Article
- Structural and functional insights into α-actinin isoforms and their implications in cardiovascular disease.The Journal of general physiology · 2025Review
- 2025 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2025Review
- Characteristics of Sudden Cardiac Arrest in Young Athletes: A Web-Based Survey of Athletes in Japanese College Sports.Cardiology research and practice · 2025Article
- Demographics, Clinical Features and Genetics of Common Inherited Arrhythmias in Oman.Journal of the Saudi Heart Association · 2025Article
- Exploratory study of serum protein biomarkers for sudden cardiac arrest using protein extension assay: A case-control study.PloS one · 2025Article
- Concealed cardiomyopathy as an emerging cause of sudden cardiac arrest and sudden cardiac death.Nature cardiovascular research · 2024Review
- Genetic testing in early-onset atrial fibrillation.European heart journal · 2024Review
- Autopsy of all young sudden death cases is important to increase survival in family members left behind.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 · 2024Review
- Idiopathic ventricular fibrillation: is it a case for genetic testing?Herzschrittmachertherapie & Elektrophysiologie · 2024Review
- [Postmortem genetic analysis following sudden cardiac death : Background, approach, and future].Herzschrittmachertherapie & Elektrophysiologie · 2024Review
- Implantable cardioverter defibrillator use in arrhythmogenic right ventricular cardiomyopathy in North America and Europe.European heart journal · 2024Article
- Cardiovascular Diseases Diagnosis Using an ECG Multi-Band Non-Linear Machine Learning Framework Analysis.Bioengineering (Basel, Switzerland) · 2024Article
- Advances in genetic diagnosis and therapy of hereditary heart disease: a bibliometric review from 2004 to 2024.Frontiers in medicine · 2024Review
- The genetic basis of apparently idiopathic ventricular fibrillation: a retrospective overview.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
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30 authors at 15 institutions in 2 countries.
Funding
Abstract
aimsGenetic testing is recommended in specific inherited heart diseases but its role remains unclear and it is not currently recommended in unexplained cardiac arrest (UCA). We sought to assess the yield and clinical utility of genetic testing in UCA using whole-exome sequencing (WES). METHODS AND
resultsSurvivors of UCA requiring external defibrillation were included from the Cardiac Arrest Survivor with Preserved Ejection fraction Registry. Whole-exome sequencing was performed, followed by assessment of rare variants in previously reported cardiovascular disease genes. A total of 228 UCA survivors (mean age at arrest 39 ± 13 years) were included. The majority were males (66%) and of European ancestry (81%). Following advanced clinical testing at baseline, the likely aetiology of cardiac arrest was determined in 21/228 (9%) cases. Whole-exome sequencing identified a pathogenic or likely pathogenic (P/LP) variant in 23/228 (10%) of UCA survivors overall, increasing the proportion of 'explained' cases from 9% only following phenotyping to 18% when combining phenotyping with WES. Notably, 13 (57%) of the 23 P/LP variants identified were located in genes associated with cardiomyopathy, in the absence of a diagnosis of cardiomyopathy at the time of arrest.
conclusionsGenetic testing identifies a disease-causing variant in 10% of apparent UCA survivors. The majority of disease-causing variants was located in cardiomyopathy-associated genes, highlighting the arrhythmogenic potential of such variants in the absence of an overt cardiomyopathy diagnosis. The present study supports the use of genetic testing including assessment of arrhythmia and cardiomyopathy genes in survivors of UCA.
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