Valvular & structural heart diseaseCohort study
Genotype-Guided Risk Stratification of Mitral Valve Surgery in Marfan Syndrome
- Retrospective cohort study
Authors' conclusion
IFVs within the DNCD region confer the highest risk for mitral valve surgery with distinct age-dependent patterns.
Study context
- Population
- Marfan syndrome patients with pathogenic FBN1 variants, 2006–2024
- Participants
- 437 patients · 231 IFVs
- Exposure
- DNCD IFVs vs Other IFVs vs PTC variants
- PTC variantsn = 206reference
- Outcome
- Mitral valve surgery (cumulative incidence)
- Follow-up
- 30 years
Main finding
As reported in the abstract
30-year cumulative incidence of mitral valve surgery
Observational data: associations, not effects.
Further findings
| Outcome | HR (95% CI) | P value | |
|---|---|---|---|
| Mitral valve surgery, patients aged ≤30 years (Cox analysis) · C-index = 0.725 | 7.83 (3.14–19.57) | P < 0.001 | |
| 0.050.21520Hazard ratio (log scale) |
Age at onset of mitral valve surgery
- DNCD IFVs: earliest onset, in childhood/adolescence; PTC variants: delayed risk beginning around age 30 years
Original publication
Genotype-Guided Risk Stratification of Mitral Valve Surgery in Marfan Syndrome. J Am Coll Cardiol. Published 11 March 2026. doi:10.1016/j.jacc.2026.01.059
Summarised from the published abstract; every number is checked against it