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http://dx.doi.org/10.1136/bjsm.34.2.137 | DOI Listing |
Pediatr Neurol
January 2025
Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain; Pediatrics Research Group, Institut de Recerca Sant Pau (IR-Sant Pau), Barcelona, Spain; Pediatric Neurology Unit, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Background: Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy associated with loss-of-function variants in the SCN1A gene. Although predominantly expressed in the central nervous system, SCN1A is also expressed in the heart, suggesting a potential link between neuronal and cardiac channelopathies. Additionally, DS carries a high risk of sudden unexpected death in epilepsy (SUDEP).
View Article and Find Full Text PDFJ Electrocardiol
January 2025
Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan. Electronic address:
Purpose Of Review: WHO defines SCD as sudden unexpected death either within 1 h of symptom onset (witnessed) or within 24 h of having been observed alive and symptom-free (unwitnessed). Sudden cardiac arrest is a major cause of mortality worldwide, with survival to hospital discharge for hospital cardiac arrest and in-hospital cardiac arrest being only 9.3 % and 21.
View Article and Find Full Text PDFEur J Prev Cardiol
January 2025
St Vincent's Institute of Medical Research, 9 Princes St Fitzroy VIC 3065 Australia.
Aim: To define the association between severe coronary artery disease and widespread atherosclerosis in younger individuals.
Methods: Individuals aged 1-50 years with sudden cardiac death (SCD) from 2019-23, autopsy-proven to be due to coronary artery disease, were identified using the state-wide EndUCD registry. Presence of extra-coronary atherosclerosis greater than modified American Heart Association class III was assessed in 5 arterial beds (intra-cerebral vessels, aorta, carotid, renal and femoral arteries).
Genes (Basel)
January 2025
Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua Medical School, 35128 Padova, Italy.
Since its first pathological description over 65 years ago, hypertrophic cardiomyopathy (HCM), with a worldwide prevalence of 1:500, has emerged as the most common genetically determined cardiac disease. Diagnostic work-up has dramatically improved over the last decades, from clinical suspicion and abnormal electrocardiographic findings to hemodynamic studies, echocardiography, contrast-enhanced cardiac magnetic resonance, and genetic testing. The implementation of screening programs and the use of implantable cardioverter defibrillators (ICDs) for high-risk individuals have notably reduced arrhythmic sudden deaths, altering the disease's mortality profile.
View Article and Find Full Text PDFBiomedicines
January 2025
Institute of Legal Medicine, Department of Medical and Surgical Sciences, "Magna Graecia" University, 88100 Catanzaro, Italy.
Background/objectives: Differential diagnosis of sudden cardiac death (SCD) remains challenging, particularly in cases lacking evident structural abnormalities. Cardiac markers have been proposed as useful tools for this differentiation in forensic contexts. However, key issues include the influence of postmortem interval (PMI) on marker stability and the limitations of traditional approaches that focus on pericardial fluid, which requires invasive sampling compared to peripheral blood.
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