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

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 familynegative cases. The low prevalence of ascending aortic disease might indicate better future prospects in an adult population than those traditionally considered.

The pulmonary artery in patients with Marfan syndrome: a cross-sectional study

“…13 A total of 73 (83.9%) of our Ghent-positive patients had an FBN1 mutation, and 54 (62.1%) had ectopia lentis. As per echocardiographic findings, none of the participants had high pressure in the pulmonary artery.…”

“…[10][11][12][13][14][15][16] For assessing fulfilment of the major cardiovascular criterion in the Ghent nosology, information was collected about previous surgery related to dilatation or dissection of the ascending aorta, and electrocardiographic evidence of dilatation of the ascending aorta was recorded. 1,13 The assessment of fulfilment of the Ghent criteria included sequencing of the entire coding region of the gene FBN1 and searching for large deletions or duplications. 12,13,16 mR or ct of the aorta and pulmonary artery This study was a substudy of the Norwegian Marfan Study.…”

“…1,13 The assessment of fulfilment of the Ghent criteria included sequencing of the entire coding region of the gene FBN1 and searching for large deletions or duplications. 12,13,16 mR or ct of the aorta and pulmonary artery This study was a substudy of the Norwegian Marfan Study. In this substudy, MR imaging of the aorta and the pulmonary artery was performed except when MR was contraindicated, in which case CT images were obtained instead.…”

“…8 This article presents data on pulmonary artery dimensions in the study population described in detail in previous studies. [10][11][12][13][14][15][16] All investigations in patients were carried out in the period [2003][2004]. Therefore all results reported in those studies are in accordance with the Ghent 1 criteria.…”

Dural Ectasia in Marfan Syndrome: A Case Control Study

“…A total of 91% of all Ghent-positive patients in our study was found to have DE on the basis of anterior or lateral meningoceles, DSD sacrum Ͼ DSD L4, or the cutoff values at level L5 and S1 of Oosterhof et al 6 Fourteen of 87 patients with MFS (16%) were dependent on DE to fulfill the Ghent criteria, 1 underscoring the importance of assessing the dural sac in individuals investigated for MFS. 2 The dura is 1 of 5 organ systems with major criteria of MFS in the Ghent nosology. Although the dural sac is a soft-tissue structure, DE has been defined to include bony changes of the spine, such as thinning of the cortex of the posterior vertebral elements, widening of the neural foramina, and vertebral scalloping in addition to the presence of a patulous dural sac and anterior meningoceles.…”