Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome.
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.
Rand-Hendriksen
Svend
S
TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, Nesoddtangen, Norway. svend.rand-hendriksen@sunnaas.no
Lundby
Rigmor
R
Tjeldhorn
Lena
L
Andersen
Kai
K
Offstad
Jon
J
Semb
Svein Ove
SO
Smith
Hans-Jørgen
HJ
Paus
Benedicte
B
Geiran
Odd
O
D000328:Adult; D001018:Aortic Diseases / Q000453:epidemiology / Q000473:pathology; D015331:Cohort Studies; D003430:Cross-Sectional Studies; D004388:Dura Mater / Q000473:pathology; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D015995:Prevalence