Doctors are pushing it more and more and Im covering a story on it. Of them, 252 (53.96%) died of cardiac causes (171 coronary, 24 cardiac causes not specified, 18 DCM, 34 HCM, 2 AC, 2 Valvular, 1 pericarditis), 85 (18.20%) of vascular injuries (31 pulmonary, 28 digestive, 19 neurological, and 7 aortic), 46 (9.85%) of respiratory affectations (27 infectious, 10 edema, 6 obstructive, 1 asthmatic, 1 aspiration, and 1 hemorrhagic), and 28 (5.99%) of other causes (17 digestive, 7 carcinogenic, 1 endocrine, 1 multiorganic failure, 1 obstetric and 1 renal infectious causes). PLOS ONE promises fair, rigorous peer review, We have divided the results in five groups of age (Fig 4): There is an increase of cardiac causes with age, reaching 54% of cases in the older group of age. The output were sorted and uniquely and properly mapped read pairs were selected. In 56.87% of cases, death was labeled from coronary artery disease (CAD), either from evidence of myocardial infarction or from the identification of severe coronary stenosis, which induced ischemia-related arrhythmias [28]. By including molecular diagnostic strategies, the ultimate goal of this work has been to develop a decision algorithm to better refine the forensic investigation, to assess the value of this powerful diagnostic tool in detecting a potential etiology, and to define which families would benefit from further clinical and genetic investigation. Recent guidelines recommend the use of post-mortem genetic testing in cases with clinical evidence suggesting a diagnosis of LQTS or CPVT [29, 45]. A total of 32 samples showing histological alterations associated with cardiomyopathies (10 DCM, 19 HCM, 1 AC, and 2 fibrosis)(Fig 5) were screened by NGS method. Four variants (10.81%) were novel. Though, despite these recommendations and the increasing availability of NGS technology, it is yet seldom performed in most forensic centers as part of the autopsy. The unexplained cases had a higher presence in context of sleep and stress/exercise. The first and main limitation already mentioned above is the lack of family members in order to perform a clinical-genetic segregation. This percentage is in concordance with other genetic studies performed with NGS panels in autopsy samples [46, 47]. NGS method identified 24 samples (85.7%) carrying at least one rare variant, 14 (50%) in genes associated with ion channels, and 20 (71.4%) in genes codifying for structural proteins. A comprehensive autopsy was performed according to current forensic guidelines. Therefore, and according to the guidelines, a diagnosis was reached as a cause of death. Finally, 33 cases (66%) were left unexplained (23 SIDS and 1 SUDEP) after complete autopsy. Stress/exercise related death was more frequent in cardiac cases (51.72%), while deaths during daily activity were more prevalent in vascular (20.23%), as well as pulmonary (12.84%) etiologies (Fig 3). Of all them, 10 (23.81%) were novel. In addition, we genetically analyzed 119 samples classified as negative autopsy cases. The specific roles of these authors are articulated in the ‘author contributions’ section. These results are in concordance with other published cohorts and well-known data about exercise being a significant risk factor for cardiac death. A post-mortem examination, also known as an autopsy, is the examination of a body after death. Competing interests: The commercial funder Gendiag S.L provided support in the form of salaries for authors CF and RB. Aortic rupture was the cause of death in 5 cases, none mentioned in the death certificate. The genetic screening identified a total of 62 rare variants in 25 out of 32 samples (78.13%). Most macroscopically positive cases were males (383 cases, 75.69%). For that reason, the aim of our work was to evaluate whether molecular autopsy could increase the identification of a potential etiology of death. NGS method identified 18 samples (69.23%) carrying at least one rare variant, 6 (33.3%) carried variants in genes associated with ion channels, and 16 (55.2%) in genes codifying for structural proteins. In concordance with similar results from recent studies [62], this could suggest that a malignant arrhythmia could appear in early stage before a structural alteration is developed. Our percentage is higher due to the largest number of analyzed genes. For example, if a person with severe heart problems dies of a heart attack and is found to have a large dose of cocaine in his system, it may not be clear if the heart attack was natural or caused by the cocaine. Of 119 cases classified as unexplained death, around 40% carry a potentially pathogenic variant. In concordance with our results, recent studies performed in post-mortem samples using NGS technology showed percentages of rare variants potentially pathogenic in 30%-40% of samples analyzed [24–26, 54–58]. The cohort between 31–40 years of age included 29 samples (20 males -68.97%-, and 9 females -31.03%-). No, Is the Subject Area "Autopsy" applicable to this article? These results agree with several studies that report that HCM is the most prevalent cardiomyopathy associated with SCD. The gene panel final size was 432,512kbp. A total of 2 samples were screened by Sanger method, 5 by NGS. In unexplained cases, genetic analysis of the main genes associated with sudden cardiac death was performed using Next Generation Sequencing technology. What are the Differences in Degrees of Murder? Sanger sequencing was used to confirm non-common (Minor Allele Frequency–MAF- < 1%) genetic variants detected by NGS, as well as in the genetic analysis of those cases with poor DNA quality.

unknown cause of death after autopsy

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