Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation

The purpose of this study was to perform a comprehensive study of dural ectasia (DE) related to FBN1 mutations. We performed a database analysis of two German metropolitan regions of 150 patients (68 men, 82 women; mean age 35 ± 16 years). All patients had a FBN1 mutation and underwent dural magneti...

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Bibliographic Details
Published in:Clinical genetics 2014-09, Vol.86 (3), p.238-245
Main Authors: Sheikhzadeh, S., Sondermann, C., Rybczynski, M., Habermann, C.R., Brockstaedt, L., Keyser, B., Kaemmerer, H., Mir, T., Staebler, A., Robinson, P.N., Kutsche, K., Berger, J., Blankenberg, S., von Kodolitsch, Y.
Format: Article
Language:English
Subjects:
Adult
Age Factors
Aorta - pathology
Dilatation, Pathologic - epidemiology
Dilatation, Pathologic - genetics
Dilatation, Pathologic - pathology
Dura Mater - pathology
dural
ectasia
FBN1
Female
Fibrillin-1
Fibrillins
Genetic disorders
Germany - epidemiology
Humans
Logistic Models
Magnetic Resonance Imaging
Male
Marfan syndrome
Microfilament Proteins - genetics
Middle Aged
Mitral Valve Prolapse - pathology
Mutation
Mutation - genetics
Odds Ratio
Phenotype
Prevalence
Statistics, Nonparametric
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Summary:The purpose of this study was to perform a comprehensive study of dural ectasia (DE) related to FBN1 mutations. We performed a database analysis of two German metropolitan regions of 150 patients (68 men, 82 women; mean age 35 ± 16 years). All patients had a FBN1 mutation and underwent dural magnetic resonance imaging. Age was 35 in 36 patients. Prevalence of dural ectasia was 89% with criteria of Oosterhof and Habermann, 83% with Fattori, 78% with Lundby, and 59% with Ahn. DE was less frequent in patients
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.12264