ArticlePloS one2016
Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 40 papers, 3 of them syntheses that pooled it.
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Who cites it
40 citing papers in PubMed, 3 syntheses or guidelines pooled it, 88 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 · 2026Pooled it
- 2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families.Heart rhythm · 2021Guideline
- Cardiac arrest and sudden cardiac death registries: a systematic review of global coverage.Open heart · 2020Pooled it
- Multidisciplinary and Personalized Molecular Diagnosis to Solving Sudden Death During Sport.Molecular diagnosis & therapy · 2026Review
- Next generation sequencing: a possible answer to sudden unexplained deaths in a young South African cohort?Forensic science, medicine, and pathology · 2025Article
- Left ventricular rigor mortis interferes with postmortem aortic root geometry.International journal of legal medicine · 2025Article
- A 10-year retrospective analysis of sudden unexpected death in the young investigated at Salt River Mortuary, Cape Town.International journal of legal medicine · 2025Article
- Whole-exome sequencing to identify causative variants in juvenile sudden cardiac death.Human genomics · 2024Article
- Genetic risk factors for drug-induced long QT syndrome: findings from a large real-world case-control study.Pharmacogenomics · 2024Observational
- Molecular autopsy by proxy: relevance for genetic counseling in rare genetic disorders.Frontiers in genetics · 2024Article
- Molecular autopsy for sudden death in Japan.Journal of toxicologic pathology · 2024Review
- Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death.Frontiers in medicine · 2023Review
- Article
- A review of the causes and risk factors for sudden unexpected death in the young.Forensic science, medicine, and pathology · 2022Review
- The genetics of drug-induced QT prolongation: evaluating the evidence for pharmacodynamic variants.Pharmacogenomics · 2022Review
- Evaluation of histopathological findings of cardiac deaths in forensic autopsies.Irish journal of medical science · 2022Article
- Article
- Review
- Medical Autopsy for Sudden Unexplained Death in Saudi Arabia: A Call to Action.Journal of the Saudi Heart Association · 2022Review
- Article
Corrections and comments
- Erratum issued
Authors and funding
25 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSudden unexplained death may be the first manifestation of an unknown inherited cardiac disease. Current genetic technologies may enable the unraveling of an etiology and the identification of relatives at risk. The aim of our study was to define the etiology of natural deaths, younger than 50 years of age, and to investigate whether genetic defects associated with cardiac diseases could provide a potential etiology for the unexplained cases. METHODS AND
findingsOur cohort included a total of 789 consecutive cases (77.19% males) <50 years old (average 38.6±12.2 years old) who died suddenly from non-violent causes. A comprehensive autopsy was performed according to current forensic guidelines. During autopsy a cause of death was identified in most cases (81.1%), mainly due to cardiac alterations (56.87%). In unexplained cases, genetic analysis of the main genes associated with sudden cardiac death was performed using Next Generation Sequencing technology. Genetic analysis was performed in suspected inherited diseases (cardiomyopathy) and in unexplained death, with identification of potentially pathogenic variants in nearly 50% and 40% of samples, respectively.
conclusionsCardiac disease is the most important cause of sudden death, especially after the age of 40. Close to 10% of cases may remain unexplained after a complete autopsy investigation. Molecular autopsy may provide an explanation for a significant part of these unexplained cases. Identification of genetic variations enables genetic counseling and undertaking of preventive measures in relatives at risk.
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