Prevention & lipidsResearch article

Sex chromosomes and cardiovascular disease

Eur J Prev CardiolPublished

  • Narrative review

Authors' conclusion

Overall, this review underscores the complexity of sex chromosome-related mechanisms in CVD

Main finding

As reported in the abstract

Role of sex chromosomes in CVD (loss of chromosomes, genetic variation, altered expression)
  • Mosaic loss of the Y chromosome (mLoY) is the most well-characterized mechanism linking sex chromosomes to cardiovascular disease (CVD), with substantial evidence in HF
  • mLoY involved in myocardial fibrosis and cardiac macrophage infiltration, both mediated by TGF-β signalling
  • X chromosome inactivation escape (higher expression of specific X-linked genes in females) may explain sex differences in CVD; human outcome impact unclear
  • narrative review

Original publication

Sex chromosomes and cardiovascular disease. Eur J Prev Cardiol. Published 15 April 2025. doi:10.1093/eurjpc/zwaf224

Summarised from the published abstract; every number is checked against it