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- Stattin, Eva-Lena, et al.
(författare)
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Genetic screening in sudden cardiac death in the young can save future lives
- 2016
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Ingår i: International Journal of Legal Medicine. - : Springer Science and Business Media LLC. - 0937-9827 .- 1437-1596. ; 130:1, s. 59-66
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Tidskriftsartikel (refereegranskat)abstract
- Autopsy of sudden cardiac death (SCD) in the young shows a structurally and histologically normal heart in about one third of cases. Sudden death in these cases is believed to be attributed in a high percentage to inherited arrhythmogenic diseases. The purpose of this study was to investigate the value of performing post-mortem genetic analysis for autopsy-negative sudden unexplained death (SUD) in 1 to 35 year olds. From January 2009 to December 2011, samples from 15 cases suffering SUD were referred to the Department of Clinical Genetics, UmeAyen University Hospital, Sweden, for molecular genetic evaluation. PCR and bidirectional Sanger sequencing of genes important for long QT syndrome (LQTS), short QT syndrome (SQTS), Brugada syndrome type 1 (BrS1), and catecholaminergic polymorphic ventricular tachycardia (CPVT) (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, and RYR2) was performed. Multiplex ligation-dependent probe amplification (MLPA) was used to detect large deletions or duplications in the LQTS genes. Six pathogenic sequence variants (four LQTS and two CPVT) were discovered in 15 SUD cases (40 %). Ten first-degree family members were found to be mutation carriers (seven LQTS and three CPVT). Cardiac ion channel genetic testing in autopsy-negative sudden death victims has a high diagnostic yield, with identification of the disease in 40 % of families. First-degree family members should be offered predictive testing, clinical evaluation, and treatment with the ultimate goal to prevent sudden death.
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| 3. |
- Wisten, Aase, et al.
(författare)
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Exercise related sudden cardiac death (SCD) in the young — Pre-mortal characterization of a Swedish nationwide cohort, showing a decline in SCD among athletes
- 2019
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Ingår i: Resuscitation. - : Elsevier BV. - 0300-9572 .- 1873-1570. ; 144, s. 99-105
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Tidskriftsartikel (refereegranskat)abstract
- Aims: To study the frequency, etiology, and premortal abnormalities in exercise-related sudden cardiac death (SCD) in the young in Sweden. Methods: All subjects with SCD in 10–35-year olds in Sweden during 2000–10, were included (n = 514). Information about each case was retrieved from death certifications, autopsy- and medical records. The number of SCD in athletes was compared to national figures from 1992-99. Results: Exercise-related SCD occurred in 12% (62/514) of the SCD-population, a majority being men (56/62; 90%). Cardiopulmonary resuscitation (CPR) was started in 87% (54/62). In total, 48% (30/62), had a cardiac diagnosis, symptoms, family history and/or ECG-changes, before the fatal event. The most prevalent autopsy diagnosis was sudden arrhythmic death syndrome (15/62; 24%). The frequency of hypertrophic cardiomyopathy (HCM) and arrhythmogenic right ventricular cardiomyopathy (ARVC) was significantly higher in exercise-related SCD compared to non-exertional SCD. Exercise-related SCD was more common in athletes (21/29) than in non-athletes (41/485) (P < 0.0001). The total number of SCDs/year in athletes 15–35 years old, are approximately halved in 2000-10 compared to the years 1992–99. Conclusion: The increased risk of exercise-related SCD in HCM and ARVC underlines the importance of early detection and eligibility recommendations. There is a major reduction in deaths among athletes in the 2000s, compared to the previous decade. These results may partly be explained by improved acute preparedness for sudden cardiac arrest (CPR, defibrillation), but as a substantial percentage have preceding risk factors, such as symptoms and ECG-abnormalities, increased cardiac screening and increased general awareness, may also play a role.
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| 4. |
- Wisten, Aase, et al.
(författare)
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Sudden cardiac death among the young in Sweden from 2000 to 2010 : an autopsy-based study
- 2017
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Ingår i: Europace. - : OXFORD UNIV PRESS. - 1099-5129 .- 1532-2092. ; 19:8, s. 1327-1334
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Tidskriftsartikel (refereegranskat)abstract
- Aims: To study the incidence and aetiology of sudden cardiac death (SCD) in 1-to 35-year-olds in Sweden from 2000 to 2010.Methods and results: We used the database of the Swedish National Board of Forensic Medicine and the Swedish Cause of Death Registry and identified SCD cases by review of forensic files and death certificates. We identified 552 individuals with SCD in 1-to 35-year-olds; 156 (28%) were women. In 393 (71%), a forensic autopsy had been performed; in 131 (24%), a clinical autopsy had been performed; in 28 (5%) with no autopsy, a cardiac disease was diagnosed before death. The incidence of SCD per 100 000 person-years was 1.3 in 1- to 35-year-olds and 1.8 in 15- to 35-year-olds. In women, the incidence rates yearly decreased during the study period by 11% (95% confidence interval 6.6-14.2). The most common aetiology in 1- to 35-year-olds was sudden arrhythmic death syndrome (31%) and coronary artery disease (15%). In cases with forensic autopsy, death occurred during daily activity (48%), sleep (38%), and physical activity (14%); death was unwitnessed in 60%. Co-morbidity in 15- to 35-year-olds, e.g. psychiatric disorder, obesity, or diabetes, was present in 93/340 (27%) (73 men).Conclusion: The incidence of SCD among 1- to 35-year-olds in Sweden during 2000-10 was 1.3 per 100 000 person-years (28% women); incidence was decreasing in women. Sudden arrhythmic death syndrome was the most common diagnosis. Co-morbidity such as psychiatric disorders and obesity was common among men.
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| 5. |
- Wisten, Aase, et al.
(författare)
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Sudden cardiac death in the young in Sweden : electrocardiogram in relation to forensic diagnosis.
- 2004
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Ingår i: Journal of Internal Medicine. - : Wiley. - 0954-6820 .- 1365-2796. ; 255:2, s. 213-220
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: To study electrocardiogram (ECG) in relation to forensic diagnosis in young persons who suffered a sudden cardiac death (SCD) in Sweden during 1992-99. DESIGN: A register study of a national database of forensic medicine in Sweden, selecting all cases of SCD 15-35 years of age. In this group, 12-lead ECGs and clinical data were searched for in military conscription and medical records. The ECGs were re-analysed and classified according to the Minnesota code criteria. SETTING: The whole nation of Sweden. SUBJECTS: Sudden cardiac death victims (66 individuals), 15-35 years of age, where it was possible to obtain an ECG recording. RESULTS: We observed major or minor ECG abnormalities in 82% of the subjects. The most common changes were T wave abnormalities (35%), ST segment changes (32%) and conduction defects (20%). The ECGs were evaluated as pathological in 50% of the cases, more often in arrhythmogenic right ventricular cardiomyopathy (88%) and hypertrophic cardiomyopathy (82%). Cardiac-related symptoms were seen in 76% of the total group and there was a family history of a similar cardiac condition in 18%. CONCLUSIONS: Pathological ECGs were common in young SCD victims, in spite of being taken many years before death. An ECG could help identify prospective victims of SCD, and should always be taken in cases with possible cardiac-related symptoms or a family history of SCD. The pathological ECGs were often found in connection with routine screening at military enlistment for men, which raises the question of a routine screening in the young, including women.
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