Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation
Standard
Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation. / Sheikhzadeh, Sara; Sondermann, Claudia; Rybczynski, Meike; Habermann, Christian R; Brockstädt, Lars; Keyser, Britta; Kaemmerer, Harald; Mir, Thomas; Staebler, Axel; Robinson, Peter N; Kutsche, Kerstin; Berger, Juergen; Blankenberg, Stefan; Kodolitsch, Yskert.
in: CLIN GENET, Jahrgang 86, Nr. 3, 2014, S. 238-245.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
Harvard
APA
Vancouver
Bibtex
}
RIS
TY - JOUR
T1 - Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation
AU - Sheikhzadeh, Sara
AU - Sondermann, Claudia
AU - Rybczynski, Meike
AU - Habermann, Christian R
AU - Brockstädt, Lars
AU - Keyser, Britta
AU - Kaemmerer, Harald
AU - Mir, Thomas
AU - Staebler, Axel
AU - Robinson, Peter N
AU - Kutsche, Kerstin
AU - Berger, Juergen
AU - Blankenberg, Stefan
AU - Kodolitsch, Yskert
N1 - This article is protected by copyright. All rights reserved.
PY - 2014
Y1 - 2014
N2 - PURPOSE: To perform a comprehensive study of dural ectasia related to FBN1 mutations.METHODS: 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 <16 years in 20, 16-25 in 27, 26-35 in 67, and >35 in 36 patients.RESULTS: Prevalence of dural ectasia was 89% with criteria of Oosterhof and Habermann, 83% with Fattori, 78% with Lundby, and 59% with Ahn. Dural ectasia was less frequent in patients <16 years with Ahn and Fattori. Dural ectasia related to skeletal manifestations with all criteria, to aortic Z-scores and mitral valve prolapse with criteria of Habermann and Lundby, and to age with criteria of Fattori. The Fattori-grade of dural ectasia increased with age, aortic Z-scores, and skeletal score points. There was no consistent relationship of dural ectasia with any type of FBN1 mutation.CONCLUSIONS: Dural ectasia is frequent in patients with FBN1 mutations irrespective of age and its severity increases during life. Criteria of Oosterhof and Habermann yielded most consistent diagnostic results. Dural ectasia relates to skeletal involvement, aortic Z-scores, and mitral valve prolapse.
AB - PURPOSE: To perform a comprehensive study of dural ectasia related to FBN1 mutations.METHODS: 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 <16 years in 20, 16-25 in 27, 26-35 in 67, and >35 in 36 patients.RESULTS: Prevalence of dural ectasia was 89% with criteria of Oosterhof and Habermann, 83% with Fattori, 78% with Lundby, and 59% with Ahn. Dural ectasia was less frequent in patients <16 years with Ahn and Fattori. Dural ectasia related to skeletal manifestations with all criteria, to aortic Z-scores and mitral valve prolapse with criteria of Habermann and Lundby, and to age with criteria of Fattori. The Fattori-grade of dural ectasia increased with age, aortic Z-scores, and skeletal score points. There was no consistent relationship of dural ectasia with any type of FBN1 mutation.CONCLUSIONS: Dural ectasia is frequent in patients with FBN1 mutations irrespective of age and its severity increases during life. Criteria of Oosterhof and Habermann yielded most consistent diagnostic results. Dural ectasia relates to skeletal involvement, aortic Z-scores, and mitral valve prolapse.
U2 - 10.1111/cge.12264
DO - 10.1111/cge.12264
M3 - SCORING: Journal article
C2 - 23991918
VL - 86
SP - 238
EP - 245
JO - CLIN GENET
JF - CLIN GENET
SN - 0009-9163
IS - 3
ER -
