Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome

• Published in: European journal of human genetics : EJHG 2009-10, Vol.17 (10), p.1222-1230
• Main Authors: Rand-Hendriksen, Svend, Lundby, Rigmor, Tjeldhorn, Lena, Andersen, Kai, Offstad, Jon, Semb, Svein Ove, Smith, Hans-Jørgen, Paus, Benedicte, Geiran, Odd
• Format: Article
• Language: English
• Subjects: Adult; Adults; Age; Aorta; Aortic Diseases - epidemiology; Aortic Diseases - pathology; Bioinformatics; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Cohort Studies; Cross-Sectional Studies; Cytogenetics; Deoxyribonucleic acid; Diagnosis; DNA; Dura mater; Dura Mater - pathology; Family medical history; Female; Fundamental and applied biological sciences. Psychology; Gene Expression; General aspects. Genetic counseling; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Genotype; Heart surgery; Human Genetics; Humans; Life expectancy; Male; Marfan syndrome; Marfan Syndrome - diagnosis; Marfan Syndrome - epidemiology; Marfan Syndrome - genetics; Marfan's syndrome; Medical genetics; Medical sciences; Middle Aged; Molecular and cellular biology; Mutation; Phenotype; Prevalence; Pulmonary arteries; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; Studies
• ISSN: 1018-4813; 1476-5438
• DOI: 10.1038/ejhg.2009.30

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.