ArticlePloS one2017
Sex, pregnancy and aortic disease in Marfan syndrome.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT06257004 (Genome-wide Epistasis for Cardiovascular Severity in Marfan Study), which is not on this map. Cited by 21 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Genome-wide Epistasis for Cardiovascular Severity in Marfan Study
Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 50 citations in OpenAlex.
- Male-female differences in acute thoracic aortic dissection: a systematic review and meta-analysis.Interactive cardiovascular and thoracic surgery · 2022Pooled it
- Pregnancy-Related Vascular Outcomes in Loeys-Dietz Syndrome: A Retrospective Cohort Study and Case Series.Medical sciences (Basel, Switzerland) · 2026Article
- Recommendations for Design, Execution, and Reporting of Studies on Experimental Thoracic Aortopathy in Preclinical Models.Arteriosclerosis, thrombosis, and vascular biology · 2025Review
- Novel Insights into the Aortic Mechanical Properties of Mice Modeling Hereditary Aortic Diseases.Thrombosis and haemostasis · 2025Article
- In vivo phenotypic vascular dysfunction extends beyond the aorta in a mouse model for fibrillin-1 (Fbn1) mutation.Scientific reports · 2024Article
- Obstetric considerations for aortopathy in pregnancy.Annals of cardiothoracic surgery · 2023Review
- Marfan Syndrome: Enhanced Diagnostic Tools and Follow-up Management Strategies.Diagnostics (Basel, Switzerland) · 2023Review
- Risk Factors for Thoracic Aortic Dissection.Genes · 2022Review
- Sensitive asprosin detection in clinical samples reveals serum/saliva correlation and indicates cartilage as source for serum asprosin.Scientific reports · 2022Article
- Arterial dissections: Common features and new perspectives.Frontiers in cardiovascular medicine · 2022Review
- Distinct Contribution of Global and Regional Angiotensin II Type 1a Receptor Inactivation to Amelioration of Aortopathy inFrontiers in cardiovascular medicine · 2022Article
- Pregnancy outcome in thoracic aortic disease data from the Registry Of Pregnancy And Cardiac disease.Heart (British Cardiac Society) · 2021Article
- Deletion of AT1a (Angiotensin II Type 1a) Receptor or Inhibition of Angiotensinogen Synthesis Attenuates Thoracic Aortopathies in Fibrillin1Arteriosclerosis, thrombosis, and vascular biology · 2021Article
- A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.American journal of human genetics · 2021Article
- Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- An Overview of Investigational and Experimental Drug Treatment Strategies for Marfan Syndrome.Journal of experimental pharmacology · 2021Review
- Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias.Frontiers in genetics · 2021Review
- Androgens Accentuate TGF-β Dependent Erk/Smad Activation During Thoracic Aortic Aneurysm Formation in Marfan Syndrome Male Mice.Journal of the American Heart Association · 2020Article
- Disorders of the Aorta and Aortic Valve in Connective Tissue Diseases.Current cardiology reports · 2020Review
- Marfan syndrome: improved clinical history results in expanded natural history.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Review
Corrections and comments
- Erratum issued
Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundSex-related differences as well as the adverse effect of pregnancy on aortic disease outcome are well-established phenomena in humans with Marfan syndrome (MFS). The underlying mechanisms of these observations are largely unknown.
objectivesIn an initial (pilot) step we aimed to confirm the differences between male and female MFS patients as well as between females with and without previous pregnancy. We then sought to evaluate whether these findings are recapitulated in a pre-clinical model and performed in-depth cardiovascular phenotyping of mutant male and both nulliparous and multiparous female Marfan mice. The effect of 17β-estradiol on fibrillin-1 protein synthesis was compared in vitro using human aortic smooth muscle cells and fibroblasts.
resultsOur small retrospective study of aortic dimensions in a cohort of 10 men and 20 women with MFS (10 pregnant and 10 non-pregnant) confirmed that aortic root growth was significantly increased in the pregnant group compared to the non-pregnant group (0.64mm/year vs. 0.12mm/year, p = 0.018). Male MFS patients had significantly larger aortic root diameters compared to the non-pregnant and pregnant females at baseline and follow-up (p = 0.002 and p = 0.007, respectively), but no significant increase in aortic root growth was observed compared to the females after follow-up (p = 0.559 and p = 0.352). In the GT-8/+ MFS mouse model, multiparous female Marfan mice showed increased aortic diameters when compared to nulliparous females. Aortic dilatation in multiparous females was comparable to Marfan male mice. Moreover, increased aortic diameters were associated with more severe fragmentation of the elastic lamellae. In addition, 17β-estradiol was found to promote fibrillin-1 production by human aortic smooth muscle cells.
conclusionsPregnancy-related changes influence aortic disease severity in otherwise protected female MFS mice and patients. There may be a role for estrogen in the female sex protective effect.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.