Importance of dural ectasia in phenotypic assessment of Marfan's syndrome.
BACKGROUND
Early identification of Marfan's syndrome is fundamental in the prevention of aortic dilatation, but the wide phenotypic expression of the disorder makes the clinical diagnosis very difficult. Dural ectasia has been classified as a major diagnostic criterion; however, its prevalence is not known. We aimed to identify the true prevalence of dural ectasia in Marfan's syndrome, and to investigate its relation to aortic pathology.


METHODS
A magnetic-resonance-imaging (MRI) study of the thoracic aorta and of the lumbosacral spine was done in an inclusive series of 83 patients with Marfan's syndrome to assess the presence and degree of dural ectasia and aortic involvement; 12 patients were younger than 18 years. 100 individuals who underwent MRI of the lumbar spine for routine clinical indications represented the control group; none of them had any potential causes for dural ectasia.


RESULTS
Dural ectasia was identified in 76 (92%) patients and none of the control group. The severity of dural ectasia was related to age; the mean (SD) age of patients with mild dural ectasia was 26 years (14) whereas that of those with severe disease (meningocele) was 36 years (9) (p=0.038). 11 of 12 patients younger than 18 years had dural ectasia. No association was found between aortic dilatation and dural ectasia.


CONCLUSIONS
Dural ectasia is a highly characteristic sign of Marfan's syndrome, even at an early age.
Fattori
R
R
Institute of Radiology, University Hospital S Orsola, Bologna, Italy. ross@med.unibo.it
Nienaber
C A
CA
Descovich
B
B
Ambrosetto
P
P
Reggiani
L B
LB
Pepe
G
G
Kaufmann
U
U
Negrini
E
E
von Kodolitsch
Y
Y
Gensini
G F
GF
D000293:Adolescent; D000328:Adult; D001011:Aorta / Q000473:pathology; D001018:Aortic Diseases / Q000175:diagnosis / Q000235:genetics; D001165:Arteriovenous Malformations / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004108:Dilatation, Pathologic / Q000175:diagnosis; D004388:Dura Mater / Q000098:blood supply* / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype