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Sudden Arrhythmic Death During Exercise: A Post-Mortem Genetic Analysis.

Oscar Campuzano1,2,3, Olallo Sanchez-Molero1, Anna Fernandez1

  • 1Cardiovascular Genetics Center, Institut d'Investigació Biomèdica Girona (IDIBGI), University of Girona, C/Dr Castany s/n, Parc Hospitalari Martí i Julià (M-2), Salt, 17190, Girona, Spain.

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Genetic analysis of young individuals who died suddenly during exercise revealed rare, potentially causative variants in genes linked to sudden cardiac death. Further research is needed for clinical application in identifying at-risk relatives.

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Brugada SyndromeCatecholaminergic Polymorphic Ventricular TachycardiaHuman Gene Mutation DatabaseRare VariantSudden Cardiac Death

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Area of Science:

  • Cardiology
  • Genetics
  • Forensic Pathology

Background:

  • Sudden cardiac death (SCD) is an unexpected death within 1 hour of symptom onset, often during exercise.
  • Myocardial infarction is a common cause, but some SCD cases, especially in young individuals, are attributed to cardiomyopathies or remain unexplained.
  • Genetic alterations are increasingly recognized as potential underlying causes of fatal arrhythmias in these cases.

Purpose of the Study:

  • To investigate genetic predispositions in a cohort of individuals who experienced sudden cardiac death during exercise.
  • To identify genetic variants in cases with structurally normal hearts classified as arrhythmogenic death.

Main Methods:

  • Analysis of 52 post-mortem samples from individuals under 50 years old with negative autopsies.
  • Utilized next-generation sequencing to screen genes associated with sudden cardiac death.

Main Results:

  • The cohort exhibited a 12:1 male prevalence, with half of deaths in the 41-50 age group.
  • Running was the most frequent exercise activity (46.15%).
  • Identified 83 rare variants in 37 samples (71.15%), with 36.14% classified as deleterious, present in 53.84% of cases.

Conclusions:

  • Comprehensive genetic analysis can identify potentially causative variants in sudden cardiac death during exercise.
  • Many identified genetic variants currently hold indeterminate significance, requiring further investigation for clinical translation.
  • Genetic screening aids in detecting causative variants and identifying at-risk family members.