ArticleInternational journal of legal medicine2016
Genetic screening in sudden cardiac death in the young can save future lives.
Article in International journal of legal medicine, 2016. 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, 65 citations in OpenAlex.
- Evaluation of genetic-molecular causes of out-of-hospital cardiac arrest - from patients to families: the GenetiCA study.Resuscitation plus · 2026Article
- Sudden Cardiac Death, Post-Mortem Investigation: A Proposing Panel of First Line and Second Line Genetic Tests.Journal of personalized medicine · 2024Review
- The role of genetic testing in the prevention, diagnosis, and prognosis of sudden cardiac arrest in children.Journal of arrhythmia · 2023Article
- Editorial: Genetics of sudden unexplained death in children and young adults: state of the art, testing and implications for translational research, public health and forensic pathology.Frontiers in medicine · 2023Article
- Postmortem Genetic Testing Is an Increasingly Utilized Tool in Death Investigation.Academic forensic pathology · 2022Article
- Cohort profile: the Swedish study of SUDden cardiac Death in the Young (SUDDY) 2000-2010: a complete nationwide cohort of SCDs.BMJ open · 2022Article
- Accurate interpretation of genetic variants in sudden unexpected death in infancy by trio-targeted gene-sequencing panel analysis.Scientific reports · 2021Article
- 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
- Single-centre retrospective analysis of the best timing for the QTc interval length assessment in neonates.BMJ paediatrics open · 2021Article
- Structure and Function of the Human Ryanodine Receptors and Their Association with Myopathies-Present State, Challenges, and Perspectives.Molecules (Basel, Switzerland) · 2020Review
- A de novo ryanodine receptor 2 gene variant in a case of sudden cardiac death.International journal of legal medicine · 2020Article
- Electrocardiographic Assessment and Genetic Analysis in Neonates: a Current Topic of Discussion.Current cardiology reviews · 2019Review
- Cardiovascular autonomic dysfunction in sudden infant death syndrome.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2018Review
- Feasibility of analysis of the SCN5A gene in paraffin embedded samples in sudden infant death cases at the Pretoria Medico-Legal Laboratory, South Africa.Forensic science, medicine, and pathology · 2018Article
- The Genetic Counselor in the Pediatric Arrhythmia Clinic: Review and Assessment of Services.Journal of genetic counseling · 2018Review
- Sudden Arrhythmic Death During Exercise: A Post-Mortem Genetic Analysis.Sports medicine (Auckland, N.Z.) · 2017Article
- Short QT syndrome in pediatrics.Clinical research in cardiology : official journal of the German Cardiac Society · 2017Review
- Sudden death due to catecholaminergic polymorphic ventricular tachycardia following negative stress-test outcome: genetics and clinical implications.Forensic science, medicine, and pathology · 2017Article
- Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors.Journal of human genetics · 2017Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAutopsy of sudden cardiac death (SCD) in the young shows a structurally and histologically normal heart in about one third of cases. Sudden death in these cases is believed to be attributed in a high percentage to inherited arrhythmogenic diseases. The purpose of this study was to investigate the value of performing post-mortem genetic analysis for autopsy-negative sudden unexplained death (SUD) in 1 to 35 year olds. METHODS AND
resultsFrom January 2009 to December 2011, samples from 15 cases suffering SUD were referred to the Department of Clinical Genetics, Umeå University Hospital, Sweden, for molecular genetic evaluation. PCR and bidirectional Sanger sequencing of genes important for long QT syndrome (LQTS), short QT syndrome (SQTS), Brugada syndrome type 1 (BrS1), and catecholaminergic polymorphic ventricular tachycardia (CPVT) (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, and RYR2) was performed. Multiplex ligation-dependent probe amplification (MLPA) was used to detect large deletions or duplications in the LQTS genes. Six pathogenic sequence variants (four LQTS and two CPVT) were discovered in 15 SUD cases (40%). Ten first-degree family members were found to be mutation carriers (seven LQTS and three CPVT).
conclusionCardiac ion channel genetic testing in autopsy-negative sudden death victims has a high diagnostic yield, with identification of the disease in 40 of families. First-degree family members should be offered predictive testing, clinical evaluation, and treatment with the ultimate goal to prevent sudden death.
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