Currently, there are a significant percentage of autopsies left without a conclusive diagnosis of death, especially when this lethal event occurs suddenly. Genetic analysis has been recently incorporated into the field of forensic medicine, especially in patients with sudden death and where no conclusive cause of death is identified after a complete medical-legal autopsy. Inherited arrhythmogenic diseases are the main cause of death in these cases. To date, more than 40 genes have been associated with arrhythmogenic disease, and causing sudden cardiac death has been described. The main arrhythmogenic diseases are Long QT Syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia, Brugada Syndrome, and Short QT Syndrome. These post-mortem genetic studies, not only allow a diagnosis of the cause of death, but also allow a clinical translation in relatives, focusing on the early identification of individuals at risk of syncope, as well as adopting personalised therapeutic measures for the prevention of a lethal arrhythmic episode.
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http://dx.doi.org/10.1016/j.acmx.2018.06.001 | DOI Listing |
CJC Open
January 2025
Population Health Research Institute, Hamilton, Ontario, Canada.
Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is typically diagnosed following an arrhythmic event or during screening after a family member experiences sudden cardiac death. Implantation of a defibrillator (ICD) improves survival but can be associated with morbidity and risks, an important consideration within a shared decision-making context. This study examined patient decisional needs and preferences surrounding ARVC screening and prophylactic ICD implantation.
View Article and Find Full Text PDFCJC Open
January 2025
Genetics and Genome Biology, Research Institute, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Ontario, Canada.
Sudden cardiac death is a leading cause of mortality in children with hypertrophic cardiomyopathy (HCM). The PRecIsion Medicine in CardiomYopathy consortium developed a validated tool (PRIMaCY) for sudden cardiac death risk prediction to help with implantable cardioverter defibrillator shared decision-making, as recommended by clinical practice guidelines. The mplemeting a udden Cardiac Dath isk Assessment ool in hildhood (INSERT-HCM) study aims to implement PRIMaCY into electronic health records (EHRs) and assess implementation determinants and outcomes.
View Article and Find Full Text PDFCureus
December 2024
Department of Anaesthesia and Intensive Care, Latifa Hospital, Dubai Health, Dubai, ARE.
We describe, to our knowledge, the first use in Dubai of extracorporeal life support (ECLS) in a patient who suffered intraoperative cardiac arrest due to presumed cardiac channelopathy. A 40-year-old patient presented for open myomectomy surgery. She had no other medical problems apart from obesity.
View Article and Find Full Text PDFCardiol Young
January 2025
Department of Medical Education and Clinical Sciences, Elson S Floyd College of Medicine, Washington State University, Spokane, WA, USA.
Sudden cardiac death poses a significant risk in patients with surgically repaired tetralogy of Fallot. Despite extensive research, risk stratification practices vary. This study surveyed the Pediatric and Adult Congenital Electrophysiology Society to identify these differences.
View Article and Find Full Text PDFPacing Clin Electrophysiol
January 2025
Department of Cardiology, General Hospital of Northern Theater Command, Shenyang, People's Republic of China.
Background: The evidence in the primary prevention of sudden cardiac death (SCD) by using implantable cardioverter defibrillators (ICD) in patients with ischemic cardiomyopathy (ICM) is well-established but remains controversial for those with nonischemic cardiomyopathy (NICM). This study evaluates whether prognostic differences exist between ICM and NICM patients after ICD implantation.
Methods: Patients initially undergoing ICD implantation as primary SCD prevention were retrospectively enrolled from January 2017 to May 2023.
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