Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation. (23rd September 2013)

• Record Type: Journal Article
• 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.
• Is Part Of: Clinical genetics. Volume 86:Number 3(2014:Sep.)
• Page Start: 238
• Page End: 245
• Publication Date: 2013-09-23
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12264
• Languages: English
• ISSNs: 0009-9163

Abstract

<abstract abstract-type="main" id="cge12264-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p id="cge12264-para-0001">The purpose of this study was to perform a comprehensive study of dural ectasia (DE) related to <italic>FBN1</italic> 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 <italic>FBN1</italic> mutation and underwent dural magnetic resonance imaging. Age was &lt;16 years in 20, 16–25 in 27, 26–35 in 67, and &gt;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 &lt;16 years with Ahn and Fattori. DE related to skeletal manifestations with all criteria, to aortic <italic>Z</italic>‐scores and mitral valve prolapse with criteria of Habermann and Lundby, and to age with criteria of Fattori. The Fattori‐grade of DE increased with age, aortic <italic>Z</italic>‐scores, and skeletal score points. There was no consistent relationship of DE with any type of <italic>FBN1</italic> mutation. DE is frequent in patients with <italic>FBN1</italic> mutations irrespective of age and its severity increases during life. Criteria of Oosterhof and Habermann yielded most consistent diagnostic results. DE relates to skeletal involvement, aortic <italic>Z</italic>‐scores, and mitral valve prolapse.</p> </abstract>