In total, an inherited cardiac disease was identified in 143 out of 304 families (47%). About half of all sudden death victims present with history of atherosclerotic heart disease. In probands, mean age at death was 39 years (75% males) and in relatives mean age at screening was 35 years (47% males). We found that more than half of all toxicologically investigated SCD victims have positive post-mortem toxicological findings, and polypharmacy is displayed in a considerable proportion. 0000032426 00000 n A multidisciplinary network for sudden death victims increases the diagnostic yield. The mean follow-up period was 5.5 years (SD 3.7; IQR 2.3–8.1). 0000038493 00000 n We aimed to investigate in detail the toxicological findings of all young SCD throughout Denmark. Acute myocardial infarction occurred in four relatives (three males and one female); all were over 55 years old, hence, the events could not fully be explained by an inherited cardiac disease. Cristina Basso, Fiorella Calabrese, Domenico Corrado, Gaetano Thiene, Postmortem diagnosis in sudden cardiac death victims: macroscopic, microscopic and molecular findings, Cardiovascular Research, Volume 50, Issue 2, May 2001, Pages 290–300, https://doi.org/10.1016/S0008-6363(01)00261-9 [The Chinese guidelines for the diagnosis and treatment of invasive fungal disease in patients with hematological disorders and cancers (the 6th revision)]. Furthermore, when comprehensively screening a large number of individuals, incidental findings should be expected, e.g. Post mortem genetic testing is testing that is performed on a sample after an individual has died. Symptoms range from vague symptoms like tiredness and fatigue, generalized cardiac symptoms like to chest pain, palpitations and shortness of breath. 0000038932 00000 n 0000037137 00000 n �7(1S�Ý ק������wA!���x�k&׃���s����~���b`��0 u�� A definite or probable pathogenic genetic variant was identified in 4, 1, 3, and 2 probands, respectively (Table 2). Provide the family with an explanation and closure. “HIC mors gaudet succurere vitae”, Arrythmogenic left ventricular cardiomyopathy. The proportion (11%) of relatives diagnosed in this study is a bit lower than previous reports showing 13–33% diagnostic yields among relatives.5,8,9 The reasons for these variable diagnostic yields among families and relatives are many and include differences in study design/inclusion criteria, different age groups, variable autopsy rates, and definitions of affected as a clinical and/or genetic diagnosis, variable number of relatives screened per family, and inclusion of borderline diagnoses in diagnostic yields. SCD, sudden cardiac death; SD, standard deviation. Several inherited cardiac diseases may lead to sudden cardiac death (SCD) a devastating event in the families. The heart was referred to our Cardiovascular Pathology Unit for valve tissue banking. Relatives were followed until 1 October 2018. Cardiomyopathy PM Genetic Testing Autopsy Negative PM Genetic Testing. 0000039204 00000 n During the follow-up period, we registered cardiovascular events: hospitalizations/outpatient visits for cardiac symptoms, new-onset reduced left ventricular ejection fraction (LVEF) ≤45%, acute myocardial infarction, ventricular tachycardia (VT)/fibrillation, device implantation [pacemaker, implantable cardioverter-defibrillator (ICD), cardiac resynchronization therapy], ICD therapy, catheter ablation, left ventricular assist device, heart transplantation, aborted SCD, SCD, and death due to other causes. This article is published and distributed under the terms of the Oxford University Press, Standard Journals Publication Model (, Electrocardiographic findings at presentation and clinical outcome in patients with SARS-CoV-2 infection, Incremental benefit of a novel signal recording system during mapping and ablation, Non-vitamin K oral anticoagulants and risk of fractures: a systematic review and meta-analysis, Arrhythmic burden in patients with new-onset persistent left bundle branch block after transcatheter aortic valve replacement: 2-year results of the MARE study, A simple and practical criterion for determining a failed His-bundle pacing, About the European Heart Rhythm Association, https://academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model, Receive exclusive offers and updates from Oxford Academic, Cardiogenetic screening amongst families of sudden cardiac death victims:Authors’ reply, Cardiogenetic screening amongst families of sudden cardiac death victims, Non-invasive detection of exercise-induced cardiac conduction abnormalities in sudden cardiac death survivors in the inherited cardiac conditions. Zipes DP, Camm AJ, Borggrefe M, Buxton AE, Chaitman B, Fromer M et al. Numbers and percentages of the diagnostic yield in different SCD families are summarized in Table 4. All eight relatives were younger than 55 years (mean age at diagnosis: 45.6 years), came from autopsied SCD probands with five being SUDS/SADS cases and had no signs or symptoms of cardiac disease at the initial work-up. 0000009161 00000 n Sudden cardiac death: a nationwide cohort study among the young. Behr ER, Dalageorgou C, Christiansen M, Syrris P, Hughes A, Esteban MTT et al. In total, 752 agents were detected, and polypharmacy (defined as the presence of more than one drug) was present in 61% (n = 164), all substances combined. 0000038254 00000 n Sattler SM, Lubberding AF, Kristensen CB, Møgelvang R, Blanche P, Fink-Jensen A, Engstrøm T, Kääb S, Jespersen T, Tfelt-Hansen J. Int J Cardiol Heart Vasc. The 19-year-old son underwent a cardiac screening comprehensive of electrocardiogram (ECG), echocardiogram, cardiac magnetic resonance and genetic testing, and the diagnosis of arrhythmogenic left ventricular cardiomyopathy was achieved. Wong LCH, Roses-Noguer F, Till JA, Behr ER. [Practice guidelines for patients with rheumatoid arthritis]. However, as a result of the cardiogenetic work-up of the relatives, an additional 34 relatives from 26 families received a definite inherited cardiac diagnosis (Figure 1). 2017 May;3(5):473-481. doi: 10.1016/j.jacep.2016.12.023. The heart was referred to our Cardiovascular Pathology Unit for valve tissue banking. If no explanation of the death was found after a full postmortem analysis was performed, we used the term SUDS. New-onset left ventricular failure was uncommon and occurred in seven relatives. 0000035821 00000 n So, the overall diagnostic yield is strongly context/referral-dependent, and our 47% estimate should be interpreted as the diagnostic yield of inherited cardiac disease in a real-world SCD clinic. Genetic counselors have a unique set of skills which make them experts in guiding both patients and providers through the genetic testing process.