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Fatal Case of Exercise Collapse Associated with Sickle Cell Trait with Novel Underlying LAMA2 Mutation.

Couger Jimenez JaramilloThomas GibbonsRachel RoseJohn Walsh
Published in: The American journal of forensic medicine and pathology (2024)
Sickle cell trait is typically thought to be an asymptomatic carrier state, but it is rarely associated with exertional rhabdomyolysis in cases termed Exercise Collapse Associated with Sickle Cell Trait (ECAST). In a subset of these cases, underlying disease contributes to the development and/or severity of the ensuing medical complications. We describe the first ever case of ECAST reported in a previously asymptomatic, multiply deployed, highly physically active service member with an underlying heterozygous LAMA2 mutation. Moreover, the mutation identified via whole exome sequencing is a novel, likely pathogenic variant that has yet to be described in the literature.
Keyphrases
  • genome wide
  • healthcare
  • high intensity
  • physical activity
  • muscular dystrophy
  • mental health
  • systematic review
  • resistance training
  • early onset
  • dna methylation
  • heat stress
  • gene expression