ArticleOrphanet journal of rare diseases2015
Prevalence, incidence, and age at diagnosis in Marfan Syndrome.
Article in Orphanet journal of rare diseases, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers, 2 of them syntheses that pooled it.
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Who cites it
74 citing papers in PubMed, 2 syntheses or guidelines pooled it, 199 citations in OpenAlex.
- Fatigue in patients with syndromic heritable thoracic aortic disease: a systematic review of the literature and a qualitative study of patients' experiences and perceptions.Orphanet journal of rare diseases · 2023Pooled it
- Prevalence of Obstructive Sleep Apnea in Joint Hypermobility Syndrome: A Systematic Review and Meta-Analysis.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2019Pooled it
- Capsular tension ring force line and intraocular lens angle on the impact of postoperative astigmatism in Marfan syndrome lens subluxation: a retrospective study.Scientific reports · 2026Article
- Phenotypic Associations of Early Cardiovascular Surgery in Pediatric Marfan Syndrome.Children (Basel, Switzerland) · 2026Article
- Genetic Associations with Pectus Excavatum: A Systematic Review.Current issues in molecular biology · 2026Review
- Comment on Barbu et al. Can Thrombosed Abdominal Aortic Dissecting Aneurysm Cause Mesenteric Artery Thrombosis and Ischemic Colitis?-A Case Report and a Review of Literature.Journal of clinical medicine · 2025Article
- Oral health and oral health-related quality of life in people with Marfan syndrome: a cross-sectional study.BMC oral health · 2025Article
- Novel FBN1 intron variant causes isolated ectopia lentis via in-frame exon skipping.Journal of human genetics · 2025Article
- Developing a more accurate population frequency of Marfan syndrome from predicted pathogenic FBN1 variants in the gnomAD cohorts.Scientific reports · 2025Article
- Refractive Alterations in Marfan Syndrome: A Narrative Review.Medicina (Kaunas, Lithuania) · 2025Review
- Genetic factors and management strategies in aortic health: a literature review of inherited aortopathy.Annals of medicine and surgery (2012) · 2025Review
- Implementation of genetic testing for heritable cardiac conditions: A scoping review.Genetics in medicine open · 2025Review
- Marfan syndrome is associated with increased risk for gynecologic disorders and maternal complications.Journal of assisted reproduction and genetics · 2024Review
- Comment on: Stratifying the risk of re-detachment: variables associated with outcome of vitrectomy for rhegmatogenous retinal detachment in a large UK cohort study.Eye (London, England) · 2024Article
- Marfan Syndrome, Hypertrophic Cardiomyopathy And Long QT A Rare Association Causing Sudden Death.Arquivos brasileiros de cardiologia · 2024Article
- Article
- Screening Mutations of the Monogenic Syndromic High Myopia by Whole Exome Sequencing From MAGIC Project.Investigative ophthalmology & visual science · 2024Observational
- Marfan syndrome in a Ghanaian male: The diagnostic challenges.Clinical case reports · 2024Article
- Marfan syndrome: insights from animal models.Frontiers in genetics · 2024Review
- A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome.European journal of human genetics : EJHG · 2024Article
14 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMarfan syndrome is a genetic disorder with considerable morbidity and mortality. Presently, clinicians use the 2010 revised Ghent nosology, which includes optional genetic sequencing of the FBN1 gene, to diagnose patients. So far, only a few studies based on older diagnostic criteria have reported a wide range of prevalence and incidence. Our aim was to study prevalence, incidence, and age at diagnosis in patients with Marfan syndrome.
methodUsing unique Danish patient-registries, we identified all possible Marfan syndrome patients recorded by the Danish healthcare system (1977-2014). Following, we confirmed or rejected the diagnosis according to the 2010 revised Ghent nosology.
resultsWe identified a total of 1628 persons with possible Marfan syndrome. We confirmed the diagnosis in 412, whereof 46 were deceased, yielding a maximum prevalence of 6.5/100,000 at the end of 2014. The annual median incidence was 0.19/100,000 (range: 0.0-0.7) which increased significantly with an incidence rate ratio of 1.03 (95% CI: 1.02-1.04, p < 0.001). We found a median age at diagnose of 19.0 years (range: 0.0-74). The age at diagnosis increased during the study period, uninfluenced by the changes in diagnostic criteria. We found no gender differences.
conclusionThe increasing prevalence of Marfan syndrome during the study period is possibly due to build-up of a registry. Since early diagnosis is essential in preventing aortic events, diagnosing Marfan syndrome remains a task for both pediatricians and physicians caring for adults.
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