Marfan Syndrome — Research Summary
Printed from RareWays (rareways.com.au) on 27 July 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Body size in young adulthood is associated with thoracic aortic events later in life.
Skoglund Larsson Linn et al. — Scandinavian cardiovascular journal : SCJ (1 December 2026)
https://pubmed.ncbi.nlm.nih.gov/42299741/
- 2.
Aortic dissection during the perinatal period in women with Marfan-related disorders: a retrospective cohort study using the Japanese Diagnosis Procedure Combination database.
Nariai Maika et al. — The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians (1 December 2026)
https://pubmed.ncbi.nlm.nih.gov/41866242/
- 3.
The impact of FBN1 variant types on pregnancy-related aortic dissection in women with Marfan syndrome.
Yokouchi-Konishi Tae et al. — International journal of cardiology (1 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42314848/
- 4.
Management of a contained left subclavian aneurysm rupture and a symptomatic right subclavian aneurysm in undiagnosed Marfan syndrome.
Petrikas Madeline et al. — Journal of vascular surgery cases and innovative techniques (1 August 2026)
https://pubmed.ncbi.nlm.nih.gov/42325504/
- 5.
Genetic and molecular mechanisms of hereditary thoracic aortic aneurysm and dissection (Review).
Wang Xiaokang et al. — Molecular medicine reports (1 August 2026)
https://pubmed.ncbi.nlm.nih.gov/42318957/
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
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Marfan Syndrome
Marfan syndrome is a genetic condition affecting connective tissue throughout the body, including the heart, blood vessels, eyes, and skeleton. People with Marfan syndrome are often tall and thin. Managing heart and aorta health is central to care.
Most Recent Research
Objectives. Larger body size is associated with larger thoracic aortic diameter, a risk factor for thoracic aortic disease (TAD). Studies of body size-indexed aortic diameters suggest wider aortas may be less harmful in large people, but the association between body size and TAD events is unknown. This study aims to assess if body size is associated with TAD events. Methods. Swedish 18-year-olds attending mandatory military conscription 1969-1997 were included. Body size was assessed as height, weight, body surface area (BSA) and body mass index (BMI) stratified into quartiles. A composite endpoint of dissection, rupture, surgery of the ascending aorta, or death from TAD was constructed, linking data from the Swedish Inpatient Register and the Cause of Death Register. Cox regression analyses, adjusted for diabetes mellitus and blood pressure at conscription, socioeconomic factors, and Marfan's syndrome, bicuspid aortic valve, and coronary artery by-pass surgery before endpoint or censoring, were performed. Results. During a median follow-up of 36 years (48,404,276 person-years), the composite endpoint occurred in 3,355 out of 1.4 million individuals, 99.7% male. The adjusted hazard ratio (95% confidence interval) for the highest versus lowest quartile of body size was 1.58 (1.43-1.73) for height, 1.90 (1.73-2.09) for weight, 1.87 (1.70-2.07) for BSA, and 1.55 (1.41-1.71) for BMI. Results were robust when surgery was excluded from the composite endpoint. Conclusions. Larger body size is associated with increased risk for TAD, regardless of the category of body size. Further studies including women, and also analyzing aortic diameter are warranted.
Common Questions
What is Marfan Syndrome?
Marfan syndrome is a genetic condition affecting connective tissue throughout the body, including the heart, blood vessels, eyes, and skeleton. People with Marfan syndrome are often tall and thin. Managing heart and aorta health is central to care.
How many clinical trials are available for Marfan Syndrome?
RareWays currently indexes 49 clinical trials for Marfan Syndrome, of which 7 are actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for Marfan Syndrome come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.
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This information is for general awareness only.
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