ReviewEuropace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology2024
Yield of molecular autopsy in sudden cardiac death in athletes: data from a large registry in the UK.
Review in Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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Who cites it
11 citing papers in PubMed, 13 citations in OpenAlex.
- Programmed ventricular stimulation for risk stratification in symptomatic athletes with nonischemic left ventricular scar and preserved ejection fraction.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2026Article
- Multidisciplinary and Personalized Molecular Diagnosis to Solving Sudden Death During Sport.Molecular diagnosis & therapy · 2026Review
- Association of Genetic Polymorphisms with Ischemic Sudden Cardiac Death: A Comparative Case-Control Study in North-Western Transylvania (Romania).Biomedicines · 2026Article
- Quantitative Histological Insights Into Sudden Arrhythmic Death Syndrome: Findings From a Forensic Autopsy Cohort.APMIS : acta pathologica, microbiologica, et immunologica Scandinavica · 2026Article
- Calcium release channel deficiency syndrome in patients diagnosed with idiopathic ventricular fibrillation and decedents classified as sudden unexplained death in the young.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2026Article
- Molecular Pathology of Cardiomyopathies: Bridging Morphology, Genomics, and Clinical Phenotypes.Current issues in molecular biology · 2026Review
- Unraveling Spontaneous Coronary Artery Dissection in Sudden Cardiac Death: Integrating Pathology, Genetics, and Molecular Autopsy.International journal of molecular sciences · 2025Review
- Iron Deficiency in Collegiate Athletes Obtaining Preparticipation Hemoglobinopathy Screening in the Upper Midwest.Pediatric blood & cancer · 2025Article
- Out-of-hospital cardiac arrest in Norwegians aged 12-49 years: nationwide analysis of preceding symptoms and risk factors related to aetiology and pre-arrest exercise habits.BMJ open sport & exercise medicine · 2025Article
- Unveiling the spectrum of sudden cardiac death: a multidisciplinary analysis from the Friuli Venezia Giulia registry.Frontiers in cardiovascular medicine · 2025Article
- Sudden cardiac death in the young: single-center study of Bari autopsy cases.Frontiers in cardiovascular medicine · 2025Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
Abstract
aimsSudden cardiac death (SCD) may occur in apparently healthy individuals, including athletes. The aim was to investigate the diagnostic role of post-mortem genetic testing, molecular autopsy (MA), in elucidating the cause of SCD in athletes. METHODS AND
resultsWe reviewed a database of 6860 consecutive cases of SCD referred to our specialist cardiac pathology centre. All cases underwent detailed cardiac autopsy, and 748 were deemed to be athletes. Of these, 42 (6%) were investigated with MA (28 using a targeted sequencing, 14 exome sequencing). Variants were classified as pathogenic, likely pathogenic, or variant of unknown significance using international guidelines. Clinical information was obtained from referring coroners who completed a detailed health questionnaire. Out of the 42 decedents (average age 35 years old, 98% males) who were investigated with MA, the autopsy was in keeping with a structurally normal heart [sudden arrhythmic death syndrome (SADS)] in n = 33 (78%) cases, followed by arrhythmogenic cardiomyopathy (ACM) in eight (19%) individuals and idiopathic left ventricular fibrosis in one (2%). Death occurred during exercise and at rest in 26 (62%) and 16 (38%) individuals, respectively. Variants that were adjudicated clinically actionable were present in seven cases (17%). There was concordance between the genetic and phenotypic findings in two cases of ACM (in FLNC and TMEM43 genes). None of the variants identified in SADS cases were previously linked to channelopathies. Clinically actionable variants in cardiomyopathy-associated genes were found in five cases of SADS.
conclusionThe yield of MA in athletes who died suddenly is 17%. In SADS cases, clinically actionable variants were found in cardiomyopathy-associated genes and not in channelopathy-associated genes. Arrhythmogenic cardiomyopathy is a common cause of SCD in athletes, and one in four decedents with this condition had a clinically actionable variant in FLNC and TMEM43 genes.
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