ArticleJournal of the American College of Cardiology2019
Rare Genetic Variants Associated With Sudden Cardiac Death in Adults.
Article in Journal of the American College of Cardiology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 45 citations in OpenAlex.
- Markers of Myocardial Stress, Myocardial Injury, and Subclinical Inflammation and the Risk of Sudden Death.Circulation · 2020Trial
- Multi-omics in cardiac arrest: a systematic review.Resuscitation plus · 2026Review
- Genetics of Sudden Cardiac Death.Diseases (Basel, Switzerland) · 2025Review
- Inflammation-resolution signalling in cardiac repair, remodelling, and heart failure.European heart journal open · 2025Review
- Towards a Multidisciplinary Approach of ECG Screening in Children and Adolescents: A Scoping Review (2005-2025).Children (Basel, Switzerland) · 2025Review
- Copy number loss Of APP cause thoracic aortic dissection.Hypertension research : official journal of the Japanese Society of Hypertension · 2025Article
- Heritable Burden of Community Sudden Death by Autopsy and Molecular Phenotyping for Precision Genotype Correlation.JACC. Clinical electrophysiology · 2025Article
- Genetics of Sudden Cardiac Arrest: Overview of Genetic Risk Factors and Aetiologies.Arrhythmia & electrophysiology review · 2025Review
- Novel Genetic Variants Associated with Primary Myocardial Fibrosis in Sudden Cardiac Death Victims.Journal of cardiovascular translational research · 2024Article
- Hereditary Aortopathies as Cause of Sudden Cardiac Death in the Young: State-of-the-Art Review in Molecular Medicine.Diseases (Basel, Switzerland) · 2024Review
- Current perspectives of sudden cardiac death management in hypertrophic cardiomyopathy.Heart failure reviews · 2024Review
- Article
- Morbid obesity impacts mortality among inpatients with type a aortic dissection: an analysis of the national inpatient sample.Journal of cardiothoracic surgery · 2023Article
- Genetic Biomarkers of Antipsychotic-Induced Prolongation of the QT Interval in Patients with Schizophrenia.International journal of molecular sciences · 2022Review
- Arrhythmic Sudden Cardiac Death in Heart Failure With Preserved Ejection Fraction: Mechanisms, Genetics, and Future Directions.CJC open · 2022Review
- Novel Indel Variation of NPC1 Gene Associates With Risk of Sudden Cardiac Death.Frontiers in genetics · 2022Article
- Genetics and genomics of arrhythmic risk: current and future strategies to prevent sudden cardiac death.Nature reviews. Cardiology · 2021Review
- Risk of sudden coronary death based on genetic background in Chinese Han population.Experimental and therapeutic medicine · 2021Article
- Sudden Death in Adults: A Practical Flow Chart for Pathologist Guidance.Healthcare (Basel, Switzerland) · 2021Review
- Diagnostic Impact of Repeated Expert Review & Long-Term Follow-Up in Determining Etiology of Idiopathic Cardiac Arrest.Journal of the American Heart Association · 2021Article
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27 authors at 10 institutions in 1 country.
Funding
Abstract
backgroundSudden cardiac death occurs in ∼220,000 U.S. adults annually, the majority of whom have no prior symptoms or cardiovascular diagnosis. Rare pathogenic DNA variants in any of 49 genes can pre-dispose to 4 important causes of sudden cardiac death: cardiomyopathy, coronary artery disease, inherited arrhythmia syndrome, and aortopathy or aortic dissection.
objectivesThis study assessed the prevalence of rare pathogenic variants in sudden cardiac death cases versus controls, and the prevalence and clinical importance of such mutations in an asymptomatic adult population.
methodsThe authors performed whole-exome sequencing in a case-control cohort of 600 adult-onset sudden cardiac death cases and 600 matched controls from 106,098 participants of 6 prospective cohort studies. Observed DNA sequence variants in any of 49 genes with known association to cardiovascular disease were classified as pathogenic or likely pathogenic by a clinical laboratory geneticist blinded to case status. In an independent population of 4,525 asymptomatic adult participants of a prospective cohort study, the authors performed whole-genome sequencing and determined the prevalence of pathogenic or likely pathogenic variants and prospective association with cardiovascular death.
resultsAmong the 1,200 sudden cardiac death cases and controls, the authors identified 5,178 genetic variants and classified 14 as pathogenic or likely pathogenic. These 14 variants were present in 15 individuals, all of whom had experienced sudden cardiac death-corresponding to a pathogenic variant prevalence of 2.5% in cases and 0% in controls (p < 0.0001). Among the 4,525 participants of the prospective cohort study, 41 (0.9%) carried a pathogenic or likely pathogenic variant and these individuals had 3.24-fold higher risk of cardiovascular death over a median follow-up of 14.3 years (p = 0.02).
conclusionsGene sequencing identifies a pathogenic or likely pathogenic variant in a small but potentially important subset of adults experiencing sudden cardiac death; these variants are present in ∼1% of asymptomatic adults.
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