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.

scholarly journals Diagnostic yield in victims of sudden cardiac death and their relatives

EP Europace ◽  
2020 ◽  
Vol 22 (6) ◽  
pp. 964-971 ◽  
Author(s):  
Benjamin Lautrup Hansen ◽  
Elisabeth Mütze Jacobsen ◽  
Amalie Kjerrumgaard ◽  
Jacob Tfelt-Hansen ◽  
Bo Gregers Winkel ◽  
...  
Keyword(s):  
Sudden Cardiac Death ◽  
Cardiac Disease ◽  
Cardiac Death ◽  
Cardiovascular Events ◽  
Diagnostic Yield ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Cardiac Events ◽  
Common Diagnosis ◽  
Inherited Cardiac Disease ◽  
Low Rate

Abstract Aims International guidelines recommend cardiogenetic screening in families with sudden cardiac death (SCD) if the suspected cause is an inherited cardiac disease. The aim was to assess the diagnostic yield of inherited cardiac diseases in consecutively referred SCD families. Methods and results In this single-centre retrospective study, we consecutively included families referred to our tertiary unit between 2005 and 2018 for screening due to SCD. Following evaluation of premortem medical records and postmortem findings for the proband, the families underwent a guideline-based screening protocol. Relatives were followed and cardiovascular events registered. In total, 304 families with 695 relatives were included. In probands, mean age at death was 39 years (75% males) and in relatives mean age at screening was 35 years (47% males). The proband-diagnosis was established through autopsy findings (n = 89), genetic analyses (n = 7), or based on premortem findings (n = 21). In the remaining 187 families with borderline/no diagnosis in the proband, screening of relatives yielded a diagnosis in 26 additional families. In total, an inherited cardiac disease was identified in 143 out of 304 families (47%). In relatives, 73 (11%) were diagnosed. Arrhythmogenic right ventricular cardiomyopathy (n = 16) was the most common diagnosis. During follow-up (mean 5.5 years), a low rate of serious cardiac events was observed (no SCD events). Conclusion Forty-seven percent of SCD families were diagnosed. Eleven percent of the screened relatives received a definite diagnosis and were offered treatment according to guidelines. A low rate of serious cardiovascular events was observed among SCD relatives.

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.

P5026Diagnostic yield in victims of sudden cardiac death and their relatives

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
B L Hansen ◽  
E M Jacobsen ◽  
A Kjerrumgaard ◽  
B G Winkel ◽  
A C Christensen ◽  
...  
Keyword(s):  
Sudden Cardiac Death ◽  
Cardiac Disease ◽  
Cardiac Death ◽  
Diagnostic Yield ◽  
Family Screening ◽  
Screening Protocol ◽  
Borderline Diagnosis ◽  
Cardiac Diagnosis ◽  
Work Up ◽  
Inherited Cardiac Disease

Abstract Background International guidelines recommend screening of relatives in families with sudden cardiac death (SCD) if the cause of death is suspected to be an inheritable cardiac disease. The inheritable cardiac diagnosis may either have been known before the death, established at the autopsy or identified through screening of relatives. Purpose To provide an estimate of the diagnostic yield of inherited cardiac disease in SCD victims. Methods In an observational study, we included all families consecutively referred to our tertiary unit for inheritable cardiac diseases in the period from 2005 to 2018 due to SCD. Families with SCD victims under 1 year of age were excluded. In total, 697 relatives from 305 families were included and all relatives underwent a standard screening protocol, which included clinical and genetic work-up. Premortem medical records and postmortem findings on the SCD victim were ascertained whenever possible. Results A definite inheritable cardiac disease was identified in 113 out of 305 SCD families prior to family screening. The diagnosis was established through autopsy findings (n=89), genetic analysis (n=3) or was established prior to death (n=21). In the remaining 192 families with no or a borderline diagnosis only, screening of the relatives yielded a diagnosis in additional 28 families (15%). On a family-basis, a total of 141 out of 305 families (46%) were diagnosed. Seventy-seven (11%) out of the 697 screened relatives received either a phenotype-positive and/or genotype-positive inheritable diagnosis and 70 (10%) relatives received a borderline diagnosis. The most common diagnoses in the relatives were ARVC (n=17) followed by DCM (n=10) (see figure). Conclusion Almost half of SCD families were diagnosed with an inheritable cardiac disease of which one fifth of the families were diagnosed as a result of family screening. In 11% of the screened relatives a probable inheritable diagnosis was identified.

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.

P2830Clinical and genetic findings in relatives to young sudden cardiac death victims without post-mortem examination (autopsy)

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
A Kjerrumgaard ◽  
E M Jacobsen ◽  
B L Hansen ◽  
B G Winkel ◽  
A H Christensen ◽  
...  
Keyword(s):  
Sudden Cardiac Death ◽  
Cardiac Disease ◽  
Cardiac Death ◽  
Diagnostic Yield ◽  
Cardiac Diseases ◽  
Post Mortem ◽  
Definite Diagnosis ◽  
Cardiac Work ◽  
Borderline Diagnosis ◽  
Work Up

Abstract Background Guidelines recommend clinical assessment of relatives to young sudden cardiac death (SCD) victims (<50 years) to protect the surviving relatives by pre-symptomatic interventions, in case the SCD was due to an inherited cardiac disorder. The etiology is an inherited cardiac disease in about 50% of young SCD cases. The work-up of relatives is generally guided by findings in the SCD victim. If post-mortem examinations (autopsies) have not been performed the work-up of relatives is challenged. The diagnostic hit-ratio of screening of relatives under these circumstances is unclear. Purpose To assess the diagnostic yield of inherited cardiac diseases of cardiac work-up in relatives of SCD victims, where no autopsy had been performed. Methods This retrospective study consecutively included families referred to our tertiary referral centre, specialised in hereditary cardiac diseases, during the period 2005 to 2018 due to SCD in the family. No autopsy had been performed in any of the SCD victims. The relatives underwent standard cardiac work-up according to guidelines. Based on the findings in the relatives the families were categorised into: 1) definite diagnosis, 2) borderline diagnosis or 3) undiagnosed. Results We assessed 149 relatives (43±16 age, 48% men) to 84 SCD un-autopsied cases (44±11 age, 79% men). In 11 (13%) families a definite diagnosis was established, in 8 (10%) families a borderline diagnosis was found and the remaining 65 (77%) families remained undiagnosed. The most common diagnosis was premature IHD (36%) followed by cardiomyopathies (27%) and channelopathies (27%). A disease-causing mutation was identified in 3 families out of 15 genetically examined families. Conclusion Systematic cardiac work-up of relatives to not-autopsied SCD victims, revealed a definite hereditary cardiac disease in 13% of the referred families, and a borderline diagnosis in additionally 10% of the families. Despite a reduced diagnostic yield in family members of non-autopsied SCD victims, work-up of relatives is clearly still justified.

The diagnostic value of cardiac magnetic resonance in athletes with suspected structural myocardial diseases

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
H Vago ◽  
L Szabo ◽  
D Balla ◽  
Z.S Dohy ◽  
C.S Czimbalmos ◽  
...  
Keyword(s):  
Cardiac Magnetic Resonance ◽  
Sudden Cardiac Death ◽  
Magnetic Resonance ◽  
Cardiac Death ◽  
Left Ventricular ◽  
Funding Source ◽  
Research Development ◽  
Myocardial Disease ◽  
Myocardial Diseases

Abstract Introduction Sudden cardiac death (SCD) is the leading cause of death in athletes occurring usually during intensive training. Cardiac magnetic resonance (CMR) is a reliable technique to assess ventricular volumes and function. Furthermore, it provides tissue-specific information and has a crucial role in detecting structural myocardial diseases. Aim We aimed to investigate the prevalence of myocardial structural heart diseases and the etiology of sudden cardiac death in highly trained athletes and their outcome during follow-up. Method We examined athletes (training ≥6 hours/week) who underwent CMR due to suspected structural myocardial disease at Semmelweis University Heart and Vascular Center between 2009 and 2019. Cine movie images and late gadolinium enhanced (LGE) images were performed. Athletes with structural myocardial alterations were followed for the endpoint of all-cause-mortality. Results CMR was performed on a total of 338 athletes (280 male, 24±11 age). The indications for CMR were as follows: aborted sudden cardiac death/sustained ventricular tachycardia (SVT) (4%), ECG alterations (36%), echocardiographic alterations (32%), positive family history of SCD or cardiomyopathies (CMP) (3%), and patients' complaints, e.g. palpitation, syncope, dyspnoea, chest complaints (25%). CMR confirmed structural myocardial disease in 82 athletes with the following distribution: 20 hypertrophic (HCM), 10 arrhythmogenic (AC), 8 dilated (DCM), and 7 non-compact (NCCMP) CMP. The CMR images of three patients indicated Fabry disease. We found post-myocardial infarction scars in 7 cases, and atypical non-ischemic scars in 28 athletes. Besides pathological conditions, we identified minor alterations in 58 patients (51 male, 25±12 age) such as: increased trabeculation, nonspecific LGE in left ventricular insertion point and myocardial crypts. Among athletes examined after aborted sudden cardiac death or SVT we found structural heart disease in 11 males and one female: AC (n=7), HCM (n=1), NCCMP (n=1) and atypical non-ischemic scars (n=3, in two patients the localisation was lateral subepicardial) were diagnosed. During the median follow up of five years one patient died in whom CMR showed lateral scar formation and only mildly reduced left ventricular ejection fraction (50%). Conclusions The most common structural alteration was non-ischaemic scar, the most common CMP was HCM, and the leading cause of sudden cardiac death or SVT in our competitive athletes was AC and lateral subepicardial scar formation. LGE pattern in various cardiomyopathies Funding Acknowledgement Type of funding source: Public grant(s) – National budget only. Main funding source(s): Project no. NVKP_16-1-2016-0017 has been implemented with the support provided from the National Research, Development and Innovation Fund of Hungary, financed under the NVKP_16 funding scheme. This project was supported by a grant from the National Research, Development and Innovation Office (NKFIH) of Hungary (K 120277).

Broad-based molecular autopsy: a potential tool to investigate the involvement of subtle cardiac conditions in sudden unexpected death in infancy and early childhood

2015 ◽  
Vol 100 (10) ◽  
pp. 952-956 ◽  
Author(s):  
Montserrat Santori ◽  
Alejandro Blanco-Verea ◽  
Rocio Gil ◽  
Judith Cortis ◽  
Katrin Becker ◽  
...  
Keyword(s):  
Sudden Cardiac Death ◽  
Genetic Variants ◽  
Early Onset ◽  
Cardiac Death ◽  
Sudden Unexpected Death ◽  
Unexpected Death ◽  
Molecular Autopsy ◽  
Sudden Unexplained Death ◽  
Unexplained Death ◽  
In Infants And Children

ObjectivesSudden unexplained death in children is a tragic and traumatic event, often worsened when the cause of death cannot be determined. This work aimed to investigate the presence of putative pathogenic genetic variants in a broad spectrum of cardiomyopathy, channelopathy and aortic disease associated genes that may have increased these children's vulnerability to sudden cardiac death.DesignWe performed molecular autopsy of 41 cases of sudden unexplained death in infants and children through massive parallel sequencing of up to 86 sudden cardiac death-related genes. Multiple in silico analyses were conducted together with a thorough review of the literature in order to prioritise the putative pathogenic variants.ResultsA total of 63 variants in 35 cases were validated. The largest proportion of these variants is located within cardiomyopathy genes although this would have been more expected of channelopathy gene variants. Subtle microscopic features of heart tissue may indicate the presence of an early onset cardiomyopathy as a predisposing condition to sudden unexpected death in some individuals.ConclusionsNext-generation sequencing technologies reveal the existence of a wide spectrum of rare and novel genetic variants in sarcomere genes, compared with that of cardiac ion channels, in sudden unexplained death in infants and children. Our findings encourage further investigation of the role of early onset inherited cardiomyopathies and other diseases involving myocardial dysfunction in these deaths. Early detection of variants in these individuals could help to unmask subtle forms of disease within their relatives, who would eventually benefit from better counselling about their genetic history.

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