Prevention & lipidsCohort study
Characterization of Arterial Aneurysms in Loeys-Dietz Syndrome
- Retrospective cohort study
- single-centre
Authors' conclusion
AAs commonly occur in patients with LDS and may occur throughout the arterial tree. Importantly, AAs may lead to clinical events including arterial dissection and rupture.
Study context
- Population
- Patients with Loeys-Dietz syndrome (LDS 1–5), Washington University in St Louis/Barnes-Jewish Hospital, 1998–202360 families
- Participants
- 103 patients
- Exposure
- TGFBR1 vs TGFBR2 vs SMAD3 vs TGFB2 vs TGFB3
- TGFBR1n = 9
- TGFBR2n = 15
- SMAD3n = 8
- TGFB2n = 8
- TGFB3n = 3
- Outcome
- Prevalence, characteristics and clinical outcomes of extra-aortic arterial aneurysms (AAs)
Main finding
As reported in the abstract
Arterial aneurysms · median follow-up 6 years
TGFBR1
17 AAs in 9 patients
events
TGFBR2
33 AAs in 15 patients
events
SMAD3
15 AAs in 8 patients
events
TGFB2
9 AAs in 8 patients
events
TGFB3
3 AAs in 3 patients
events
- Median age at AA diagnosis (years)
- 40
- Arterial aneurysms (AAs) in arch vessels or cerebral circulation
- 75%
- AAs that enlarged over time
- 17%
- Enlarging AAs leading to clinical events
- 38%
- AA-related events (throughout the arterial tree)
- 22%
Observational data: associations, not effects.
Further findings
Predictors of AA
- Univariate: baseline aortic event and baseline prophylactic aortic surgery associated with AA
- Multivariate model included baseline prophylactic aortic surgery and arterial tortuosity
Previous aortic events, with vs without AA on initial imaging
- With AA
- 61%
- Without AA
- 35%
Original publication
Characterization of Arterial Aneurysms in Loeys-Dietz Syndrome. J Am Coll Cardiol. Published 24 June 2025. doi:10.1016/j.jacc.2025.04.020
Summarised from the published abstract; every number is checked against it