ArticleEuropean journal of human genetics : EJHG2009
Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome.
Article in European journal of human genetics : EJHG, 2009. 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 NCT02111668 (Thoracic Aortic Dilatation Syndromes - Diagnostic, Incidences, Morbidity, Mortality and Socioeconomical Observations.), which is not on this map. Cited by 16 papers.
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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.
Thoracic Aortic Dilatation Syndromes - Diagnostic, Incidences, Morbidity, Mortality and Socioeconomical Observations.
Who cites it
16 citing papers in PubMed, 51 citations in OpenAlex.
- The natural history of protrusio acetabuli in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up CT study.Orphanet journal of rare diseases · 2025Article
- MRI-Derived Dural Sac and Lumbar Vertebrae 3D Volumetry Has Potential for Detection of Marfan Syndrome.Diagnostics (Basel, Switzerland) · 2024Article
- Incidence and de novo mutation rate of Marfan syndrome and risk of ectopia lentis.Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2023Article
- Novel and recurrentFrontiers in medicine · 2022Article
- Health-related quality of life in Marfan syndrome: a 10-year follow-up.Health and quality of life outcomes · 2020Article
- Ocular Manifestations and Biometrics in Marfan's Syndrome from Eastern Nepal.Clinical ophthalmology (Auckland, N.Z.) · 2020Article
- Survival, causes of death, and cardiovascular events in patients with Marfan syndrome.Molecular genetics & genomic medicine · 2018Article
- Long-term follow-up after scleral lens fixation in patients with Marfan syndrome.BMC ophthalmology · 2017Article
- Enlarged Dural Sac in Idiopathic Bronchiectasis Implicates Heritable Connective Tissue Gene Variants.Annals of the American Thoracic Society · 2016Article
- Intimal Detachment of the Left Main Coronary Artery in a Marfan Patient with Acute Aortic Dissection: An Alternative Technique for Coronary Revascularization.Journal of cardiac surgery · 2016Article
- Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.BMC musculoskeletal disorders · 2016Review
- Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.BMC medical genetics · 2015Article
- Standardization and validation of a novel and simple method to assess lumbar dural sac size.Clinical radiology · 2015Article
- CT of the hips in the investigation of protrusio acetabuli in Marfan syndrome. A case control study.European radiology · 2011Article
- Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation.Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation · 2010Article
- Dural ectasia in Marfan syndrome: a case control study.AJNR. American journal of neuroradiology · 2009Article
Corrections and comments
- Erratum issued
Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The prevalence of each single feature in the Ghent criteria in patients with Marfan syndrome (MFS) is not known. To elucidate this, a cross-sectional study of 105 adults with presumed MFS was carried out. All patients were examined by the same group of investigators with standardized and complete assessment of all features in the Ghent criteria. Eighty-seven (83%) fulfilled the criteria in 56 different variants. The most prevalent major criterion in Ghent-positive persons was dural ectasia (91%), followed by major genetic criterion (89%) and ectopic lenses (62 %). In 14 persons (16%), the diagnosis was dependent on the dural findings. In all, 79% fulfilled both major dural and major genetic (positive family history and/or FBN1 mutation) criteria, suggesting that most patients with MFS might be identified by investigating these criteria. A history or finding of ascending aortic disease was present in 46 patients (53%). This low prevalence might partly reflect a high number of diagnosed patients encompassing the whole spectrum of the syndrome. The study confirms the need to examine for the complete set of features in the Ghent criteria to identify all patients with MFS. The majority of persons with MFS might be identified by the combined assessment of dura mater and family history, supplemented with DNA analysis in family-negative cases. The low prevalence of ascending aortic disease might indicate better future prospects in an adult population than those traditionally considered.
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