Sudden Death Victims Research Articles

Strategies used to deliver bad news to the family of unexpected and sudden death victims: a scoping review protocol

Objective: This scoping review aims to map the strategies used during the communication of bad news to families of unexpected and sudden death victims from the perspective of those receiving the news. Introduction: The strategies used in communicating a person’s death to their family, especially in unexpected and sudden situations, can have a profound impact on the grief management process. This communication is often carried out by a health professional (doctor, nurse, or paramedic), but may also be carried out by a police officer, depending on the context in which the situation has occurred (in or out of hospital). Inclusion criteria: This scoping review will include studies on families of victims of unexpected and sudden death. All studies focusing on the strategies used to communicate bad news of unexpected and sudden death face to face, implemented by any professional in an intra-hospital or extra-hospital context, from the perspective of those who received the news, will be considered. Methods: The JBI methodology for scoping reviews will be followed. An initial search will be conducted, followed by a second search for published and unpublished studies in major health-related electronic databases. Studies published in English, Spanish, French, and Portuguese will be included, with no geographical, cultural, or time limits. Data selection, extraction, and synthesis will be performed independently by 2 reviewers and will include details of populations, study methods, and strategies used. A narrative synthesis will accompany the results and describe how they relate to the objectives of the review. Review registration: Open Science Framework https://osf.io/4rhw3

Novel Genetic Variants Associated with Primary Myocardial Fibrosis in Sudden Cardiac Death Victims

Novel Genetic Variants Associated with Primary Myocardial Fibrosis in Sudden Cardiac Death Victims

Fine particulate matter-sudden death association modified by ventricular hypertrophy and inflammation: a case-crossover study.

Sudden death accounts for approximately 10% of deaths among working-age adults and is associated with poor air quality. Objectives: To identify high-risk groups and potential modifiers and mediators of risk, we explored previously established associations between fine particulate matter (PM2.5) and sudden death stratified by potential risk factors. Sudden death victims in Wake County, NC, from 1 March 2013 to 28 February 2015 were identified by screening Emergency Medical Systems reports and adjudicated (n = 399). Daily PM2.5 concentrations for Wake County from the Air Quality Data Mart were linked to event and control periods. Potential modifiers included greenspace metrics, clinical conditions, left ventricular hypertrophy (LVH), and neutrophil-to-lymphocyte ratio (NLR). Using a case-crossover design, conditional logistic regression estimated the OR (95%CI) for sudden death for a 5 μg/m3 increase in PM2.5 with a 1-day lag, adjusted for temperature and humidity, across risk factor strata. Individuals having LVH or an NLR above 2.5 had PM2.5 associations of greater magnitude than those without [with LVH OR: 1.90 (1.04, 3.50); NLR > 2.5: 1.25 (0.89, 1.76)]. PM2.5 was generally less impactful for individuals living in areas with higher levels of greenspace. LVH and inflammation may be the final step in the causal pathway whereby poor air quality and traditional risk factors trigger arrhythmia or myocardial ischemia and sudden death. The combination of statistical evidence with clinical knowledge can inform medical providers of underlying risks for their patients generally, while our findings here may help guide interventions to mitigate the incidence of sudden death.

Proarrhythmic drugs, drug levels, and polypharmacy in victims of sudden arrhythmic death syndrome: An autopsy-based study from Denmark

BackgroundSudden arrhythmic death syndrome (SADS), characterized by an unknown or inconclusive cause of death at autopsy together with a negative or nonlethal toxicology screening result, is the most common cause of sudden cardiac death in victims younger than 35 years. The complete causality of SADS remains unclear, with drugs being a potential risk factor. ObjectiveThis study aimed to describe the toxicologic profiles of SADS victims, focusing on proarrhythmic drugs, drug levels, and polypharmacy. MethodsAll deaths in Denmark of those aged 1–35 years in 2000–2019 and 36–49 years in 2007–2019 were examined through death certificates, national registries, and autopsy reports with toxicology screenings. We investigated all sudden unexpected death victims with an autopsy performed, including negative or nonlethal drug findings, where cause of death was unknown or inconclusive (SADS). ResultsWe identified 477 SADS victims; 313 (66%) had a positive toxicology screening result (adjudicated nonlethal), with an average of 2.8 drugs per case. More than half of the SADS victims with a positive toxicology screening result had QT-prolonging or brugadogenic drugs present. Polypharmacy was present in 66%, psychotropic polypharmacy in 37%, and QT-prolonging polypharmacy in 22%, with the most frequent overall and QT-prolonging drug combination being an antipsychotic and a psychoanaleptic drug. QT-prolonging drugs were more often present at suprapharmacologic levels than non–QT-prolonging drugs. ConclusionThe majority of the SADS population had a positive toxicology screening result, with a notably large proportion having proarrhythmic drugs and polypharmacy. This highlights the need for future focus on drugs as a risk factor for SADS.

Clinical and genetic yield of familial screening after a sudden unexplained death at a young age.

In a population under 45 years of age, the predominant causes of sudden cardiac death (SCD) are inherited cardiac diseases. Determining the underlying cause may help identify relatives at risk and prevent further events but is more difficult if an autopsy has not been performed. We aimed to assess the diagnostic value of clinical and genetic screening in relatives of young non-autopsied sudden unexplained death (SUD) victims. Eighty-seven relatives of 65 young non-autopsied SUD victims from 39 families were evaluated from 2016 to 2019. The relatives underwent extensive noninvasive cardiac workup. Genetic examinations were performed in 39 families. The definite diagnoses were made in 17 of 39 (44%) families. Cardiomyopathies were identified in 10 families (5 hypertrophic, 4 dilated, and 1 arrhythmogenic), followed by long QT syndrome (5 families). In 3 families, probable diagnoses were made, whereas in 20 families no diagnosis was achieved. In total, definite and probable diagnoses were made in 18 and 5 patients, respectively. All affected relatives were offered medical management, one of them died of heart failure and one underwent transplantation during the median follow-up of 3 years. Disease-causing variants were found in 7 of 39 (18%) probands; all in families with a definite diagnosis. Variants of unknown significance were found in 2 probands. Screening of relatives of SUD victims is warranted and may save lives, even if it is not guided by autopsy results. Genetic testing in families without the disease phenotype has little effectiveness.

High-risk coronary plaque of sudden cardiac death victims: postmortem CT angiographic features and histopathologic findings

High-risk coronary plaques (HRP) are characterized in clinical radiological imaging by the presence of low plaque attenuation, a napkin-ring sign (NRS), spotty calcifications (SC) and a positive remodeling index (RI). To evaluate if these signs are detectable in postmortem imaging by a multi-phase postmortem CT angiography (MPMCTA), a retrospective study of a series of autopsy well-documented coronary plaques related to sudden cardiac death (SCD) was performed. Then correlations between histological and radiological findings were described. Fourty SCD cases due to acute coronary syndrome based on clinical history and confirmed at autopsy were selected (28 men and 12 women, age 53.3 ± 10.9). The culprit lesion was mainly situated in the proximal segments of coronary arteries, in the right coronary artery in 23 cases (57.5%), the left anterior descending artery in 13 cases (32.5%), the circumflex artery in 3 cases (7.5%) and in one case in the left main stem. MPMCTA showed a positive RI (≥ 1.1) in 75% of cases with a mean RI 1.39 ± 0.71. RI values were lower in cases with fibrotic plaques. NRS was observed in 40% of cases, low attenuation plaque in 46.3%, and SC in 48.7% of cases. There were significant correlations of the radiological presence of NRS for fibrolipid composition of the plaque (p-value 0.007), severe intraplaque inflammation (p-value 0.017), severe adventitial inflammation (p-value 0.021) and an increased vasa vasorum (p-value 0.012). A significant correlation (p-value 0.002) was observed between the presence of SC at radiological examination and the presence of punctuate/fragmented calcification at histology. In addition, in 58.3% of cases, plaque enhancement was observed, which correlated with plaque inflammation and the fibrolipid composition of the plaque. The coronary artery calcium score was 314 (± 455). There was a poor agreement between stenosis of the lumen at histology versus radiology. Our study shows that the various radiological signs of HRP can be detected in all plaques by MPMCTA, but individually only to a variable extent; plaque enhancement appeared as a new sign of vulnerability. In the postmortem approach, these radiological markers of HRP, should always be applied in combination, which can be useful for developing a predictive model for diagnosing coronary SCD.

Abstract P101: The Association Between Residing in a Food Desert and Hypertension in Victims of Sudden Death

Introduction: Sudden deaths, defined as unexpected deaths not attributable to suicide, trauma or cancer account for over 10% of deaths in adults aged 18-64 years. More evidence is needed to understand how socioeconomic factors interplay with physiological processes such as hypertension to contribute to sudden death. We hypothesized that residing in a food desert would be associated with hypertension and poor blood pressure (BP) control in people who died of sudden death. Methods: We screened Emergency Medical Services (EMS) records from 2013 to 2015 in Wake County, NC, which includes the capital city of Raleigh and >1 million residents, and adjudicated 399 sudden death victims using a standardized protocol. We collected medical history and BP measures from health records and linked geocoded patient addresses to census-tract data from the USDA’s Food Access Research Atlas. Of these, 350 victims had address data available, and of these 196 had blood pressures available. Residing in a food desert was defined as living in a low income and low access area, which is defined as no access to grocery stores within 1 mile in urban areas and 10 miles in rural areas. The ten most recent systolic BP measures prior to death were used to calculate average BP. We calculated unadjusted differences in mean BP by residence in a food desert. We also calculated unadjusted odds ratios (ORs) comparing the probability of having a hypertension diagnosis and of having controlled BP (systolic BP <130 mmHg) by residence in a food desert. Results: We examined 350 sudden decedents who were 33% Black (116 of 350), 64% White (224 of 350), 31% women (109 of 350), and a median age of 55. Of these, seventy-nine (23%) resided in a food desert, and these were more likely to have diabetes mellitus (38.0% vs. 26.6%), (30 of 79 and 72 of 271 respectively). Sudden decedents who resided in a food desert had higher systolic BP with a mean of 140 mmHg compared with 134 mmHg for those who did not reside in a food desert (mean difference 6.15, CI 6.012-6.298). Of those residing in a food desert, 60.8% (48 of 79) had a medical diagnosis of hypertension, and 33.3% (14 of 48) had controlled BP. There was no association between residing in a food desert and a diagnosis of hypertension (OR 1.04, 95% CI 0.62-1.74) or controlled BP (OR 1.73, 95% CI 0.85-3.54). Conclusion: Almost a quarter of sudden decedents resided in a food desert at the time of death. In this case group, residing in a food desert was associated with a small BP increase but not with diagnosed hypertension or controlled BP. Large population studies are necessary to investigate the risk of sudden death and poor blood pressure control associated with residing in a food desert.

Family history of sudden cardiac death among vctims of sudden death in yazd, iran

Objectives: A positive family history of Sudden Cardiac Death (SCD) is an independent risk factor for mortality. This study aimed to determine the prevalence of a positive family history of SCD and its associated risk factors among victims of sudden death in Yazd.
 Methods: This cross-sectional study investigated SCD cases in Yazd, Iran, in 2011. The study included victims who were aged 20 years or older, and the cause of death was the cardiac arrest within one hour of symptom onset. The data obtained from families of SCD victims through verbal autopsy interviews.
 Results: A total of 317 cases of SCD occurred among victims, resulting in an incidence rate of 139.4 per 100,000 population 26.2% had a positive family history of SCD, with a mean age of 60.4 ± 12.3 years. Individuals with a positive family history of SCD had a significantly younger mean age at the time of death (60.9 ± 12.3 vs. 66.9 ± 16.5 years, P = 0.018). The prevalence of diabetes mellitus (odds ratio 1.43, CI 95% = 1.03–1.99, P = 0.042), dyslipidemia (odds ratio 1.47, CI 95% = 1.07–2.1, P = 0.038), chronic coronary artery disease (P =0.027), and revascularization (P = 0.049) had a significant association with positive family history of SCD.
 Conclusions: This study highlights the importance of assessing family history as a risk factor for SCD, along with other risk factors such as diabetes, dyslipidemia, and chronic coronary artery disease.

Myocardial steatosis: An autopsy-discovered case

Introduction: Myocardial steatosis, a poorly documented pathology, is characterized by the accumulation of abnormal amounts of triglycerides in the cardiomyocytes. Myocardial steatosis is generally asymptomatic, but it can be the cause of heart failure. It is primarily of hypoxic or metabolic origin. Case Report: We report a case of postmortem diagnosis in a 53-year-old male patient, without known his pathological history, who was a victim of sudden death from abdominal pain. The autopsy revealed diffuse atheromatous cardiac, aortic, and hepatic lesions. Conclusion: It is very common for myocardial steatosis to be diagnosed postmortem due to its nonspecific symptomatology. The risk of mortality and morbidity could be reduced through a healthy lifestyle and regular biological examination to identify risk factors.

Abstract 14513: A Bayesian Analysis of Circadian Variation in Sudden Death in Wake County, North Carolina

Introduction: Sudden death is often attributed to coronary artery disease. Demonstrating that sudden death exhibits a different circadian profile than coronary artery disease would support the emerging concept that sudden death is a syndrome, with multiple etiologies. Hypothesis: Sudden death will demonstrate a circadian peak with deaths more frequent in the morning hours. Methods: The study analyzed 399 sudden death victims aged 18-64 attended by Wake County Emergency Medical Services (EMS) from 2013 to 2015. Time of death was determined using EMS records and medical examiner reports. When time of death could not be reliably determined for a victim, the victim was removed from the study. Only 169 deaths (42.3%) where time of death was reliably known to within one hour were included in the final analysis. Bayesian hierarchical modeling identified the location and/or absence of peak times for sudden death victims overall and subgroups with heart failure (19), coronary artery disease (40), hypertension (89), and respiratory disorders (48). Results: Time of death for all-cause sudden death victims spanned from 6:30 AM to noon, with no evidence of a specific, circadian peak. However, sudden death victims with underlying chronic heart failure displayed a strong circadian peak around 7:00 AM, while respiratory disorder cases showed a limited peak in the mid to late morning. Victims with coronary artery disease and hypertension exhibited no peak (Figure 1). Conclusions: Sudden death victims lack a distinct overall pattern for time of death. However, individuals with underlying heart failure and possibly respiratory diseases demonstrate a circadian pattern. These findings support the notion that sudden death has multiple causes beyond coronary artery disease. Future preventive interventions should consider the diverse etiologies of sudden death.

Abstract 14764: Underuse of Preventive Care Among Female Sudden Death Victims

Background: Sudden death accounts for approximately 10% of deaths among working age adults. The rate of sudden death among females is one third lower than males, although the burden of chronic medical conditions are similar in victims of both sexes. The reasons for this difference are unclear and may be important in addressing preventive screening underutilization, as preventive screenings have been shown to reduce morbidity and mortality. Research Questions: Does utilization of preventive services differ among sudden death victims and living controls? Do these differences vary by sex? Aims: We aim to describe receipt of preventive screenings and influenza vaccination in sudden death victims and to compare these rates to those of a living control population. Methods: Clinical records from 267 out-of-hospital sudden death victims aged 18-64 in Wake County, North Carolina from 2013-2015 and 1112 demographically matched living controls from the same county and time were compared. Victims were identified by screening Emergency Medical Service records and adjudicated to exclude expected deaths from chronic disease, trauma, suicide, and overdose. Records were systematically reviewed for evidence of influenza vaccination and receipt of colon, cervical, and breast cancer screenings within the past five years, according to USPSTF criteria. Percentage of individuals who received each preventive screening were compared using means difference tests. Binomial regression was performed to investigate the effect of insurance status on preventive care receipt Results: Rates of colonoscopy and influenza vaccination were similar between cases and controls among both sexes. Female victims had low utilization of preventive services and were less likely to have received Pap smears (24.1% vs 50.9%; p<0.001) and mammography (44.0% vs 65.2%; p<0.001) compared to controls. While these differences can be partially explained by insurance status, with both private and public insurance being protective, screening differences remained significant. Conclusion: Significant differences in preventive screenings are present among female sudden death victims and may represent an important behavioral pattern to identify and intervene upon in these vulnerable patients.

Abstract 15206: Prevalence of Myocardial Adipose Tissue in Non-Ischemic and Ischemic Victims of Sudden Cardiac Death

Background: Recent imaging studies have shown that patients with myocardial infarction scar who have ventricular arrhythmias show more adipose tissue around the scar. Similar changes are seen in ARVC. Purpose: The aim of this study was to determine the prevalence of myocardial adipose tissue that co-localize with fibrosis in non-ischemic and ischemic sudden cardiac death (SCD) victims. Methods: The ischemic and non-ischemic subjects were derived from the FinGesture cohort, consisting of autopsy verified consecutive victims of SCD in Northern Finland between years 1998-2017 (n=5,869). Total of 48 non-ischemic, 47 ischemic and 37 accidental/intoxication related death subjects were included in the study. Hematoxylin-eosin-stained slides were digitized and fibrofatty deposits was determined using virtual microscopy software. Results: Myocardial adipose tissue was present in 51% of ischemic cases, 29% of non-ischemic cases and 14% of controls (p< 0.001). In ischemic cases, BMI seems to be associated with the presence of myocardial adipose tissue. Mean BMI was higher in subjects with myocardial adipose tissue versus subjects without (29.2 vs 24.9. p=0.022). Conclusions: The findings suggest that adipose tissue might have an influence in creation of fatal arrhythmias in SCD as it does in scar related ventricular arrhythmias. In addition, it seems that obesity is associated with ischemic scar related adipose tissue metaplasia.

Epidemiological profiles and causes of sudden deaths of various ages in Ethiopia: an autopsy-based study

Background Sudden death is an important global public health issue. An autopsy is an important source of epidemiological data, as the considerable causes of sudden death remain hermetic until postmortem examination. This study is devoted to evaluating the sociodemographic, behavioral, clinical and pathological characteristics of sudden deaths of various ages in Ethiopia. Methods This is an observational, prospective, descriptive study that included all sudden deaths observed over 1 year at St. Paul’s Hospital and Millennium Medical College, Addis Ababa, Ethiopia. Results Sudden death (n = 568) accounted for 11.5% of all autopsied cases. There were 482 males and 86 females (M:F ratio of 5.6:1) and a mean age of 44.81±17.349. The peak age group was the fourth and fifth decades, accounting for 43.9% of the cases. Chronic substance abuse and a history of prior illness were declared in 40.1% and 38% of victims of sudden death, respectively. Cardiovascular (36.1%), respiratory (32.6%), and gastrointestinal system (19.5%) pathologies were the most common causes. The leading underlying causes of sudden death were ischemic heart disease and pneumonia. Most (86.6%) sudden deaths occurred outside of a hospital setting. Conclusions Most of the causes of sudden death in Ethiopia can be prevented and treated. The majority of sudden deaths are silent without preexisting symptoms. Therefore, it is vital to develop public health measures that will help educate the community about the importance of recognizing the manifestation of various clinical conditions and the need to seek immediate clinical help. Furthermore, efforts should be made to make healthcare facilities accessible and affordable with adequate diagnostic and management capacity. Documentation of autopsy-based data could provide important epidemiological information to guide medical services, prevention efforts, and control measures.

Abstract 18143: Sudden Death in Heart Failure (HF) With Preserved Ejection Fraction: Clinical Profile and Role of Atrial Fibrillation (AF) and HF NYHA Class

Introduction: Clinical risk factors for sudden death(SD) in patients with HFpEF have not been hitherto well characterized nor is the impact of concomitant atrial fibrillation (AF) on SD risk in HFpEF defined. Methods: We evaluated 1765 HFpEF subjects from the TOPCAT Americas trial to identify potential clinical markers for SD risk. We also examined the role of AF presentation, comparing pts in sinus rhythm (SR, n=1319) to pts in AF at study entry with two different AF presentations (Any AF or AF on baseline ECG) during a mean follow up period of 2.9 years. Results: AF on baseline ECG was independently associated with excess CV mortality (HR 1.46, 95% CI 1.10-1.95, P = 0.009). SD occurred in 77 pts (4.4%) of all HFpEF subjects. 20 SD victims had concomitant AF on baseline ECG (26 % of all SD). SD events were significantly more frequent in males (p=.002), in black or other minority ethnicity (vs. white; p<0.001), diabetics (p=0.024), lower eGFR (p=0.035) and vascular disease (p=0.044). Multivariate Cox analysis identified significant increased SD risk in people with reduced eGFR (HR 0.98, CI: 0.97 to 1.00, p=0.005), reduced risk in females (HR 0.40, 95% CI 0.24,0.65, p<0.001) and increased risk in smokers (HR: 2.16, 95% CI: 1.03 to 4.54, p=0.042). In unmatched or propensity score matched cohorts, neither Any AF or AF on ECG was independently associated with increased SD risk (Figure; p>0.2). SD risk was also similar in early and advanced NYHA class HF. Conclusions: 1. SD risk in HFpEF is influenced by gender, race, lifestyle and systemic comorbidities. 2. In contrast to HF with reduced EF, SD risk is not impacted by concomitant AF, its presentation or HF NYHA class.

176 Identikit of Sport-related Sudden Cardiac Death (SrSCD) victim in Football

176 Identikit of Sport-related Sudden Cardiac Death (SrSCD) victim in Football

An mTORC1-Dependent Mouse Model for Cardiac Sarcoidosis.

Background Sarcoidosis is an inflammatory, granulomatous disease of unknown cause affecting multiple organs, including the heart. Untreated, unresolved granulomatous inflammation can lead to cardiac fibrosis, arrhythmias, and eventually heart failure. Here we characterize the cardiac phenotype of mice with chronic activation of mammalian target of rapamycin (mTOR) complex 1 signaling in myeloid cells known to cause spontaneous pulmonary sarcoid-like granulomas. Methods and Results The cardiac phenotype of mice with conditional deletion of the tuberous sclerosis 2 (TSC2) gene in CD11c+ cells (TSC2fl/flCD11c-Cre; termed TSC2KO) and controls (TSC2fl/fl) was determined by histological and immunological stains. Transthoracic echocardiography and invasive hemodynamic measurements were performed to assess myocardial function. TSC2KO animals were treated with either everolimus, an mTOR inhibitor, or Bay11-7082, a nuclear factor-kB inhibitor. Activation of mTOR signaling was evaluated on myocardial samples from sudden cardiac death victims with a postmortem diagnosis of cardiac sarcoidosis. Chronic activation of mTORC1 signaling in CD11c+ cells was sufficient to initiate progressive accumulation of granulomatous infiltrates in the heart, which was associated with increased fibrosis, impaired cardiac function, decreased plakoglobin expression, and abnormal connexin 43 distribution, a substrate for life-threatening arrhythmias. Mice treated with the mTOR inhibitor everolimus resolved granulomatous infiltrates, prevented fibrosis, and improved cardiac dysfunction. In line, activation of mTOR signaling in CD68+ macrophages was detected in the hearts of sudden cardiac death victims who suffered from cardiac sarcoidosis. Conclusions To our best knowledge this is the first animal model of cardiac sarcoidosis that recapitulates major pathological hallmarks of human disease. mTOR inhibition may be a therapeutic option for patients with cardiac sarcoidosis.

Whole genome sequencing in the 100,000 Genomes project identifies a RYR2 variant associating with dilated cardiomyopathy and sudden unexpected death in the young

Abstract Funding Acknowledgements Type of funding sources: None. Background Previous studies have shown genetic testing in sudden unexpected death in the young (SUDY) cases identify a pathogenic variant in 13-27% of cases. This diagnostic yield increased up to 39% when genetic testing was combined with family evaluation. The 100,000 Genomes Project was launched to investigate the role of whole genome sequencing (WGS) as a diagnostic tool for cancers and rare diseases in a national health care system. Young sudden death victims with no finding on postmortem testing were enrolled to the SUDY cohort. Purpose We aimed to analyse WGS data in the SUDY cohort of 100,000 Genomes Project with panel analysis and trio studies in order to examine the yield of WGS in this population. Methods Sudden death victims, aged 40 or younger, without pre-existing condition that would explain the event and with no diagnosis established on postmortem examination were enrolled between 2017 and 2019 at different Genomic Medicine Centres (GMCs) across the UK. Parents were recruited in all paediatric cases. DNA sequencing was performed by Illumina. The platform's automated pipeline was used for variant calling. Panel based and hypothesis free approaches were used for data analysis. Variant analysis was performed with focus on variants with combined annotation-dependent depletion (CADD) score >15 and American College of Medical Genetics and Genomics (ACMG) classification of pathogenic (P), likely pathogenic (LP), or variant of unknown significance (VUS). Results A total of 15 participants, including 6 trios, were included in the study. Participants had a median age of 18 [IQR 1-29.5] and two thirds were male. Following assessment of all protein coding and intronic variants identified, only the missense variant RYR2:c.10046C>T (p.Ser3349Leu) was thought to be suitable for investigation for upgrade to likely pathogenic, giving a diagnostic yield of 6.67% for WGS in SUDY cases. This variant was detected in a 24-year-old sudden death victim. Family evaluation led to the diagnosis of dilated cardiomyopathy (DCM) in four family members and segregation testing confirmed affected family members harboured the variant. Further investigation in 100,000 Genomes Project, laboratory data, and our inherited cardiac conditions database as well as previous publications, identified additional cases of this variant in association with DCM and sudden cardiac death (see table and figure). Conclusion WGS with targeted gene analysis can be an effective diagnostic tool for SUDY. The study’s findings show the importance of large population databases and collaboration in the research community, allowing reclassification of a RYR2 VUS as a LP variant, the strongest genetic data so far to associate a missense variant with familial DCM and the risk for SCD. This research was made possible through access to the data and findings generated by the 100,000 Genomes Project.

Incidence and autopsy rates of sudden cardiac death in Northern Finland

Abstract Funding Acknowledgements Type of funding sources: Foundation. Main funding source(s): Sigrid Juselius foundation. Finnish foundation for cardiovascular research. Background/Introduction Sudden cardiac death (SCD) is one of the most common modes of death in Western societies. The exact incidence and etiological background of SCD is somewhat unknown due to the low number of autopsies performed in sudden death victims. In prior autopsy studies approximately 40% of sudden death victims have other than cardiac cause for the event and in most countries autopsy rates are between 5-25%. Purpose Determine the incidence of SCD and autopsy rates for sudden death in Northern Finland. Methods We performed a death certificate review of all out of hospital or hospice deaths in 2016 in Northern Finland. Death was determined to be sudden if it occurred within one hour of occurrence of symptoms or if the victim was found dead. Information on autopsy, cause of death, and demographical data were collected. Results From a total of 6620 deaths 1412 occurred out of hospital/hospice. Death was classified as sudden in 1067 (16.1%) victims. Mean age was 70.1 yrs (±16.5 yrs) and 66.9% were male. Autopsy rate for all sudden deaths was 73.7%. Among victims under 70yrs autopsy rate was 90.8% and in under 50 yrs 96.2%. In all 785 autopsied sudden deaths 421 (53.6%) were SCD i.e. cardiac cause for death. In a population of 740 000 out of hospital/hospice sudden death incidence in 2016 was 144/100 000 and SCD incidence on 2016 was 77/100 000. Autopsied sudden cardiac death (N=421) was caused by ischemic heart disease (310, 73.6%), hypertensive heart disease (48, 11.4%), cardiomyopathy (50, 11.9%) or other cardiac causes (13, 3.1%). Conclusions Autopsy rates of sudden death in Northern Finland are high. The utilization of autopsies in sudden death provide the premises for accurate SCD incidence calculations. The results confirm the assumption that a large part of sudden deaths are non-cardiac and common cardiac diseases are the most frequent cause of SCD in unselected general population.

PO-03-227 INCIDENCE AND AUTOPSY RATES OF SUDDEN CARDIAC DEATH IN NORTHERN FINLAND

Sudden cardiac death (SCD) is one of the most common modes of death in Western societies. The exact incidence and etiological background of SCD is somewhat unknown due to the low number of autopsies performed in sudden death victims. In prior autopsy studies approximately 40% of sudden death victims have other than cardiac cause for the event and in most countries autopsy rates are between 5-25%. Determine the incidence of SCD and autopsy rates for sudden death in Northern Finland. We performed a death certificate review of all out of hospital or hospice deaths in 2016 in Northern Finland. Death was determined to be sudden if it occurred within one hour of occurrence of symptoms or if the victim was found dead. Information on autopsy, cause of death, and demographical data were collected. From a total of 6620 deaths 1412 occurred out of hospital/hospice. Death was classified as sudden in 1067 (16.1%) victims. Mean age was 70.1 yrs (±16.5 yrs) and 66.9% were male. Autopsy rate for all sudden deaths was 73.7%. Among victims under 70yrs autopsy rate was 90.8% and in under 50 yrs 96.2%. In all 785 autopsied sudden deaths 421 (53.6%) were SCD i.e. cardiac cause for death. In a population of 740 000 out of hospital/hospice sudden death incidence in 2016 was 144/100 000 and SCD incidence on 2016 was 77/100 000. Autopsied sudden cardiac death (N=421) was caused by ischemic heart disease (310, 73.6%), hypertensive heart disease (48, 11.4%), cardiomyopathy (50, 11.9%) or other cardiac causes (13, 3.1%). Autopsy rates of sudden death in Northern Finland are high. The utilization of autopsies in sudden death provide the premises for accurate SCD incidence calculations. The results confirm the assumption that a large part of sudden deaths are non-cardiac and common cardiac diseases are the most frequent cause of SCD in unselected general population.

Variation circadienne et hebdomadaire de la mort subite d'origine cardiaque : registre autopsique du nord de la Tunisie

IntroductionSeveral studies have suggested a circadian and septadian pattern of incidence of sudden cardiac death with a morning peak and a Monday peak. ObjectiveTo analyze the circadian and septadian pattern of occurrence of sudden cardiac death in the eight northern Tunisian governorates. MethodsWe prospectively collected epidemiological and autopsy data of sudden cardiac death victims occurring in the northern region of Tunisia between January 2013 and December 2019. ResultsThe population included 1834 men (79.6%) and 468 women (20.4%) with a mean age of 56.5 ± 14 years. Smoking (53.9%) was the most prevalent cardiovascular risk factor. One-fifth (20.9%) of victims had known heart disease, and 3% had a family history of sudden death.ischemic heart disease was the leading cause of sudden death (46.8% of cases). One- fourth (25.7%) of autopsies were negative.Analysis of the circadian pattern of occurrence of sudden cardiac death identified a peak (36.1%, p < 0.001) between midnight and 6 am. This nocturnal excess mortality was significant (p < 0.001) and independent of sex (34.1 % in men and 43.8 % in women) and cause of death (39.3 % of cases of sudden ischemic death and 33.3 % of cases of nonischemic death).Moreover, there was a significant septadian variability in the occurrence of sudden death (p: 0.0015), with a peak on Friday (15.8 %, p: 0.042). ConclusionThis study showed a peak of sudden death between midnight and 6 am, and on Fridays, confirming the modification of the classic circadian and septadian pattern of sudden death occurrence. These results may help optimize the deployment of emergency mobile teams and structures during the most vulnerable periods.