Genotype impacts survival in Marfan syndrome
Authors' conclusion
Marfan syndrome patients with an HI mutation are at increased risk for cardiovascular death and aortic dissection compared with patients with a DN mutation.
Study context
- Population
- Adults with Marfan syndrome in the Dutch CONCOR registry since 2001; mean age 36.5 ± 13.5 years357 with pathogenic FBN1 mutation
- Participants
- 570 adults
- Exposure
- Haploinsufficient (HI) FBN1 mutation vs DN FBN1 mutation
- HIn = 146
- DNn = 211reference
- Outcome
- Severe aortic phenotype: CV death, combined death and dissection, any aortic complication
- Follow-up
- Mean 8.2 ± 3.1 years
Methodological detailsDutch CONCOR registry, adjusted for age, sex and previous aortic complications
- Dutch CONCOR registry
- Adjusted for age, sex and previous aortic complications
Main finding
As reported in the abstract
HI vs DNHazard ratio (95% CI)P value
CV death
2.5(1.0–6.1)
P = 0.049Combined death and dissection
2.4(1.4–4.2)
P < 0.001Any aortic complication
1.6(1.1–2.3)
P = 0.014Observational data: associations, not effects.
Further findings
Aortic surgery, men vs women
- At baseline: 38.0 vs. 19.4%
- P < 0.001
- During follow-up: 24.0 vs. 15.1%
- P = 0.008
Cumulative survival and dissection-free survival (whole cohort) · 10 years
- Cumulative survival
- 93.8%
- Dissection-free survival
- 84.2%
Original publication
Genotype impacts survival in Marfan syndrome. Eur Heart J. Published 18 January 2016. doi:10.
Summarised from the published abstract; every number is checked against it