Aortic & peripheral vascular diseaseCohort study
Differences in Arterial Events in Vascular Ehlers-Danlos, Loeys-Dietz, and Marfan Syndrome
- Retrospective cohort study
- multicentre consortium (Montalcino Aortic Consortium)
Authors' conclusion
There are significant gene- and sex-specific differences in the prevalence and age of onset of arterial events associated with these heritable thoracic aortic disease genes, highlighting the importance of tailored counseling and surveillance based on the causative gene.
Study context
- Population
- Individuals with pathogenic variants in heritable thoracic aortic disease genes (COL3A1, FBN1, transforming growth factor (TGF)-β pathway genes)
- Participants
- 1,780 individuals
- Exposure
- Arterial and aortic events by causative gene: COL3A1 vs TGF-β pathway genes vs FBN1
- COL3A1n = 125
- TGFBR2n = 168
- TGFBR1n = 137
- TGFB2n = 126
- SMAD3n = 196
- FBN1n = 1,028
- Outcome
- Arterial events (dissection, rupture or aneurysm of arteries beyond the aorta requiring open or endovascular repair); aortic events (aortic dissection or aortic aneurysm repair)
Main finding
As reported in the abstract
Prevalence of arterial events (83 individuals overall)
Observational data: associations, not effects.
Further findings
Aortic vs arterial events
- TGF-β genes and FBN1: aortic events significantly earlier and more penetrant than arterial events; no such difference with COL3A1
Arterial events by sex
- Males with COL3A1 had earlier and more arterial events vs males with TGF-β genes; not observed in females
- Arterial events in FBN1 occur primarily in men
Original publication
Differences in Arterial Events in Vascular Ehlers-Danlos, Loeys-Dietz, and Marfan Syndrome. J Am Coll Cardiol. Published 24 June 2025. doi:10.1016/j.jacc.2025.04.023
Summarised from the published abstract; every number is checked against it