Postmortem genetic testing in sudden death cases

ESC CardioMed ◽  
2018 ◽  
pp. 685-688
Author(s):  
Najim Lahrouchi ◽  
Elijah R. Behr ◽  
Connie R. Bezzina
Keyword(s):  
Genetic Testing ◽  
Sudden Cardiac Death ◽  
Cardiac Disease ◽  
Cardiac Death ◽  
Arrhythmic Death ◽  
Sudden Unexplained Death ◽  
Unexplained Death ◽  
Sudden Arrhythmic Death Syndrome ◽  
Death Cases ◽  
Postmortem Genetic Testing

Postmortem analysis of young sudden cardiac death patients leads to a diagnosis of structural cardiac disease in the majority of cases. However, despite thorough autopsy, including toxicological and histological analysis, in one-third of patients no cause of death is identified and these patients are classified as sudden unexplained death or sudden arrhythmic death syndrome. Postmortem genetic testing in these patients can establish a genetic aetiology of sudden cardiac death, which allows for appropriate screening and management of family members at risk of sudden cardiac death.

Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection

2017 ◽  
Vol 131 (5) ◽  
pp. 1211-1219 ◽  
Author(s):  
Marina Gago-Díaz ◽  
Eva Ramos-Luis ◽  
Silvia Zoppis ◽  
Esther Zorio ◽  
Pilar Molina ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Sudden Cardiac Death ◽  
Aortic Dissection ◽  
Cardiac Death ◽  
Thoracic Aortic Dissection ◽  
Death Cases ◽  
Postmortem Genetic Testing

scholarly journals Diagnostic findings in relatives to victims of sudden unexplained death or non-autopsied possible sudden cardiac death

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
C.V Dalgaard ◽  
B.L Hansen ◽  
E.M Jacobsen ◽  
A Kjerrumgaard ◽  
J Tfelt-Hansen ◽  
...  
Keyword(s):  
Sudden Cardiac Death ◽  
Cardiac Disease ◽  
Cardiac Death ◽  
Diagnostic Yield ◽  
Initial Evaluation ◽  
Funding Source ◽  
Sudden Unexplained Death ◽  
Unexplained Death ◽  
Inherited Cardiac Disease

Abstract Introduction Sudden cardiac death (SCD) may be caused by several inherited cardiac diseases and screening and treatment of relatives may be lifesaving. Sudden unexplained death (SUD) victims have been autopsied, whereas non-autopsied possible SCD (pSCD) victims are only filtered on manner of death and medical records. Screening of relatives may identify an inherited cardiac disease. Purpose To assess the diagnostic yield at initial evaluation and during follow-up of relatives to SUD and pSCD victims. Furthermore, to evaluate the outcome in the relatives. Methods We retrospectively included first-degree relatives to SUD and pSCD victims referred to our tertiary center from 2005 to 2018. Probands with known antemortem inherited cardiac disease were excluded. Data from systematic screening and routine follow-up of the relatives were registered. Results We included 371 first-degree relatives from 187 families: 276 SUD relatives (age at initial evaluation 35±17 years, 54% men;) and 95 pSCD relatives (age at initial evaluation 40±15 years, 51% men). The diagnostic yield among SUD families was 18%, among pSCD families 13% (p>0.05 between groups). The diagnoses in SUD families were mainly channelopathies (68%), whereas the pSCD families were diagnosed with cardiomyopathies, channelopathies, and premature ischemic heart disease (Figure 1). The vast majority of diagnosed families (93%) were diagnosed at the initial evaluation and only two families were diagnosed during the mean follow-up of 5.4 years. During follow-up, 57 (15%) relatives had a cardiac-related hospitalization, 12 (3%) relatives had a cardiac device implanted, three (1%) relatives died of non-cardiac causes, and one (0.5%) relative had a myocardial infarction. There was no significant difference in cardiac event rates between the SUD and pSCD groups (all p>0.05). Conclusion One in 6–7 families with SUD or pSCD victims obtained a diagnosis based on screening of relatives; we mainly diagnosed channelopathies in SUD families and a broader spectrum of inherited cardiac disease in the pSCD families. The majority of affected relatives was diagnosed at the initial evaluation and clinical follow-up may not be warranted in all relatives with normal findings at initial screening. Figure 1. Family diagnoses in categories, n (%) Funding Acknowledgement Type of funding source: Foundation. Main funding source(s): The Capital Regions Research Foundation and The A.P. Moeller Foundation.

Postmortem genetic testing of the ryanodine receptor 2 (RYR2) gene in a cohort of sudden unexplained death cases

2012 ◽  
Vol 127 (1) ◽  
pp. 139-144 ◽  
Author(s):  
M. K. Larsen ◽  
K. E. Berge ◽  
T. P. Leren ◽  
P. H. Nissen ◽  
J. Hansen ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Ryanodine Receptor ◽  
Sudden Unexplained Death ◽  
Unexplained Death ◽  
Death Cases ◽  
Postmortem Genetic Testing

scholarly journals Sudden Cardiac Death in the Young

2020 ◽  
Vol 13 (10) ◽  
Author(s):  
Francis J. Ha ◽  
Hui-Chen Han ◽  
Prashanthan Sanders ◽  
Kim Fendel ◽  
Andrew W. Teh ◽  
...  
Keyword(s):  
Risk Factors ◽  
Coronary Artery Disease ◽  
Body Mass Index ◽  
Coronary Artery ◽  
Sudden Cardiac Death ◽  
Odds Ratio ◽  
Cardiac Death ◽  
Arrhythmic Death ◽  
Sudden Arrhythmic Death Syndrome ◽  
Artery Disease

Background: Sudden cardiac death (SCD) in the young is devastating. Contemporary incidence remains unclear with few recent nationwide studies and limited data addressing risk factors for causes. We aimed to determine incidence, trends, causes, and risk factors for SCD in the young. Methods and Results: The National Coronial Information System registry was reviewed for SCD in people aged 1 to 35 years from 2000 to 2016 in Australia. Subjects were identified by the International Classification of Diseases , Tenth Revision code relating to circulatory system diseases (I00–I99) from coronial reports. Baseline demographics, circumstances, and cause of SCD were obtained from coronial and police reports, alongside autopsy and toxicology analyses where available. During the study period, 2006 cases were identified (median age, 28±7 years; men, 75%; mean body mass index, 29±8 kg/m 2 ). Annual incidence ranged from 0.91 to 1.48 per 100 000 age-specific person-years, which was the lowest in 2013 to 2015 compared with previous 3-year intervals on Poisson regression model ( P =0.001). SCD incidence was higher in nonmetropolitan versus metropolitan areas (0.99 versus 0.53 per 100 000 person-years; P <0.001). The most common cause of SCD was coronary artery disease (40%), followed by sudden arrhythmic death syndrome (14%). Incidence of coronary artery disease–related SCD decreased from 2001–2003 to 2013–2015 ( P <0.001). Proportion of SCD related to sudden arrhythmic death syndrome increased during the study period ( P =0.02) although overall incidence was stable ( P =0.22). Residential remoteness was associated with coronary artery disease–related SCD (odds ratio, 1.44 [95% CI, 1.24–1.67]; P <0.001). For every 1-unit increase, body mass index was associated with increased likelihood of SCD from cardiomegaly (odds ratio, 1.08 [95% CI, 1.05–1.11]; P <0.001) and dilated cardiomyopathy (odds ratio, 1.04 [95% CI, 1.01–1.06]; P =0.005). Conclusions: Incidence of SCD in the young and specifically coronary artery disease–related SCD has declined in recent years. Proportion of SCD related to sudden arrhythmic death syndrome increased over the study period. Geographic remoteness and obesity are risk factors for specific causes of SCD in the young.

scholarly journals Incidence and Etiology of Sudden Cardiac Death: New Updates for Athletic Departments

2017 ◽  
Vol 9 (3) ◽  
pp. 268-279 ◽  
Author(s):  
Irfan M. Asif ◽  
Kimberly G. Harmon
Keyword(s):  
African Americans ◽  
Sudden Cardiac Death ◽  
Cause Of Death ◽  
Cardiac Death ◽  
The United States ◽  
Common Finding ◽  
Normal Heart ◽  
Basketball Players ◽  
Sudden Unexplained Death ◽  
Unexplained Death

Context: Sudden cardiac death (SCD) in a young athlete is a tragic event and is the leading medical cause of death in this population. The precise incidence of SCD in young athletes has been subject of debate, with studies reporting drastically different rates (1:917,000 athlete-years (AYs) to 1:3000 AYs) depending on the methodological design of the investigation or the targeted population. Evidence Acquisition: A literature search was performed in PubMed using the terms: incidence, sudden cardiac death, sudden death, sudden cardiac arrest, etiology, pathology, registry, athlete, young, children, and adolescents. Articles were reviewed for relevance and included if they contained information on the incidence of SCD in athletes or young persons up to the age of 35 years. Study Design: Clinical review. Level of Evidence: Level 5. Results: Studies of high quality and rigor consistently yield an incidence of 1:50,000 AYs in college athletes and between 1:50,000 and 1:80,000 AYs for high school athletes, with certain subgroups that appear to be at particularly high risk, including the following: men, basketball players, and African Americans. Initial reports suggest that the most common cause of SCD is hypertrophic cardiomyopathy (HCM). However, more comprehensive investigations in the United States and international populations—athletes, nonathletes, and military—support that the most common finding on autopsy in young individuals with SCD is actually a structurally normal heart (autopsy-negative sudden unexplained death). Conclusion: SCD is the leading cause of death in athletes during exercise and usually results from intrinsic cardiac conditions that are triggered by the physiologic demands of vigorous exercise. Current rates of SCD appear to be at least 4 to 5 times higher than previously estimated, with men, African Americans, and male basketball players being at greatest risk. Emerging data suggest that the leading finding associated with SCD in athletes is actually a structurally normal heart (autopsy-negative sudden unexplained death).

1. Sudden Unexplained Death in a Psychiatric Patient – A Case Report: The Role of Phenothiazines and Physical Restraint

1997 ◽  
Vol 37 (2) ◽  
pp. 170-175 ◽  
Author(s):  
Anil Kumar
Keyword(s):  
Case Report ◽  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Psychiatric Patients ◽  
Physical Restraint ◽  
Unexpected Death ◽  
Sudden Unexplained Death ◽  
Unexplained Death ◽  
The Subject

Psychotropic drug use has long been associated with sudden unexplained and unexpected death in psychiatric patients despite controversies surrounding the issue. Physical restraint following violent episodes in psychiatric in-patients is also associated with neurally mediated sudden cardiac death. A case where these two mechanisms have jointly resulted in sudden death is reported. The literature on the subject is reviewed and the measures which may be useful in reducing the incidence of such deaths are discussed. The need for accurate and detailed reporting of such cases is emphasized.

Postmortem genetic testing in sudden cardiac death: To be or not to be?

2018 ◽  
Vol 280 ◽  
pp. S19
Author(s):  
Sehime Gulsun Temel ◽  
Burcu Turkgenc ◽  
Arzu Akcay ◽  
Aylin Koseler ◽  
Cengiz Yakicier
Keyword(s):  
Genetic Testing ◽  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Postmortem Genetic Testing

scholarly journals Global approaches to postmortem genetic testing after sudden cardiac death in the young: A survey among healthcare professionals

2020 ◽  
Author(s):  
Lieke M. van den Heuvel ◽  
Judy Do ◽  
Laura Yeates ◽  
Heather MacLeod ◽  
Cynthia A. James ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Healthcare Professionals ◽  
Professional Associations ◽  
Financial Resources ◽  
Multidisciplinary Teams ◽  
Testing Practices ◽  
Postmortem Genetic Testing

ABSTRACTPurposeThorough investigation of sudden cardiac death (SCD) in those aged 1-40 years commonly reveals a heritable cause, yet access to postmortem genetic testing is variable. We explore practices of postmortem genetic testing and attitudes of healthcare professionals worldwide.MethodsA survey was administered among healthcare professionals recruited through professional associations, social media and networks of researchers. Topics included practices around postmortem genetic testing, level of confidence in healthcare professionals’ ability, and attitudes towards postmortem genetic testing practices.ResultsThere were 112 respondents, with 93% from North America, Europe and Australia and 7% from South America, Asia and Africa. Only 30% reported autopsy as mandatory, and overall practices were largely case-by-case and not standardised. North American respondents (87%) more often perceived practices as ineffective compared to those from Europe (58%) and Australia/New Zealand (48%, p=0.002). Where a heritable cause is suspected, 69% considered postmortem genetic testing and 61% offered genetic counseling to surviving family members; financial resources varied widely. Half believed practices in their countries perpetuated health inequalities.ConclusionPostmortem genetic testing is not consistently available in the investigation of young SCD despite being a recommendation in international guidelines. Access to postmortem genetic testing, guided by well-resourced multidisciplinary teams, is critical in ascertaining a cause of death in many cases.

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