Aortic & peripheral vascular disease
Genotype-aortic phenotype correlations in Marfan syndrome: a systematic review and meta-analysis of Fibrillin-1 variants
Pooled result · Aortic presentationResult — go to the resultPooled relative risk 2.62 95% CI 1.90–3.61Authors' conclusion
We found significant genotype-aortic phenotype correlations among FBN1 variant classes.
Study context
- Population
- Adults with Marfan syndrome and FBN1 variantsover 6000 adults
- Comparison
- Haploinsufficiency (HI) vs dominant negative (DN)
- Outcome
- Aortic aneurysm, dissection and surgery
Methodological detailsPubMed, Scopus and ScienceDirect searched up to 1 March 2025; 17 studies identified, 11 meta-analysed
- PubMed, Scopus and ScienceDirect searched up to 1 March 2025; 17 studies identified, 11 meta-analysed
Pooled result
Aortic presentation
Pooled relative risk
2.62
95% CI 1.90–3.61
P < 0.001
HI vs DN
pooled RR 2.62 (95% CI 1.90–3.61); P < 0.001
As reported in the abstract
Further pooled results
| Outcome | Pooled RR (95% CI) | P value | |
|---|---|---|---|
| Adverse aortic events, missense cohort: substitutions of or by cysteine · τ2=0.12, I²=76.1% | 2.21 (1.18–4.15) | P < 0.001 | |
| 0.20.5125Pooled relative risk (log scale) |
Aortic risk by structural variant classification (subgroup)
- HI variants highest risk, followed by missense and splicing mutations (pooled proportion)
- 0.18 and 0.15
Original publication
Genotype-aortic phenotype correlations in Marfan syndrome: a systematic review and meta-analysis of Fibrillin-1 variants. Heart. Published 27 November 2025. doi:10.
Summarised from the published abstract; every number is checked against it