Gender, diversity, and inclusion in phenotypic and genetic characterization of acute coronary syndromes: rationale and design of the prospective multicentre GEDI-ACS registry

Aims Despite an overall decline in cardiovascular mortality in recent years and advances in diagnosis and treatment, acute coronary syndromes (ACS) remain a leading cause of morbidity and mortality among women worldwide. Sex-specific risk factors and mechanisms remain under-recognized and complicate early diagnosis and management. Methods and results The GEDI-ACS registry (PNRR-MCNT2-2023-12377431; NCT06441942) is a prospective, multicentre, non-randomized clinical study aiming to identify the phenotypic and genetic profiles of women with ACS. The study is enrolling 100 consecutive women presenting with ACS (ST-segment elevation myocardial infarction, non-ST-segment elevation myocardial infarction, or unstable angina) in Northern and Southern Italy. In these patients, comprehensive clinical, imaging, biochemical, and molecular phenotyping (including whole exome sequencing, transcriptomics, proteomics, and metabolomics) will be performed. Data on socioeconomic status, health literacy, and awareness of cardiovascular risk factors will be collected through standardized questionnaires. Follow-up, scheduled at 1 and 12 months, will assess clinical outcomes, quality of life, adherence to therapies, and lifestyle modifications. Conclusion The GEDI-ACS registry will provide novel insights into the sex-specific profile of ACS by integrating clinical, genetic, molecular, and socioeconomic data from female patients. The results may support the development of personalized interventions that account for gender diversity.