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Erschienen in: Neuroradiology 6/2009

01.06.2009 | Diagnostic Neuroradiology

Performance of a new quantitative method for assessing dural ectasia in patients with FBN1 mutations and clinical features of Marfan syndrome

verfasst von: Bahar Söylen, Kerstin Hinz, Jana Prokein, Hartmut Becker, Jörg Schmidtke, Mine Arslan-Kirchner

Erschienen in: Neuroradiology | Ausgabe 6/2009

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Abstract

Introduction

This study presents a comparison of established methods for measuring dural ectasia with a new quantitative method of assessing this clinical feature.

Methods

Seventeen patients with an identified mutation in FBN1 were examined for dural ectasia. The results were compared with 17 age- and sex-matched controls. Our images were also evaluated using the two methods of quantifying dural ectasia, namely those of Ahn et al. and of Oosterhof et al.

Results

With our method, 80% MFS1 patients and 7% controls fulfilled the criterion for dural ectasia. Using the method of Oosterhof et al., dural ectasia was found in 88% patients with MFS1 and in 47% controls. Using the method of Ahn et al. 76% patients with Marfan syndrome and 29% controls showed dural ectasia.

Conclusion

We present a novel quantitative method of evaluating MRT images for dural ectasia, which, in our own patient cohort, performed better than those previously described.
Literatur
1.
Zurück zum Zitat Dietz HC, Pyeritz RE, Hall BD, Cadle RG, Hamosh A, Schwartz J, Meyers DA, Francomano CA (1991) The Marfan syndrome locus: confirmation of assignment on chromosome 15 and identification of tightly linked markers at 15q15-q21.3. Genomics 9:355–361PubMedCrossRef Dietz HC, Pyeritz RE, Hall BD, Cadle RG, Hamosh A, Schwartz J, Meyers DA, Francomano CA (1991) The Marfan syndrome locus: confirmation of assignment on chromosome 15 and identification of tightly linked markers at 15q15-q21.3. Genomics 9:355–361PubMedCrossRef
2.
Zurück zum Zitat Putnam EA, Zhang H, Ramirez F, Milewicz DM (1995) Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. Nature Genet 11:456–458PubMedCrossRef Putnam EA, Zhang H, Ramirez F, Milewicz DM (1995) Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. Nature Genet 11:456–458PubMedCrossRef
3.
Zurück zum Zitat De Paepe A, Devereux RB, Dietz HC, Hennekam RCM, Pyeritz RE (1996) Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 62:417–426PubMedCrossRef De Paepe A, Devereux RB, Dietz HC, Hennekam RCM, Pyeritz RE (1996) Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 62:417–426PubMedCrossRef
4.
Zurück zum Zitat Fattori R, Nienaber CA, Descovich B, Ambrosetto P, Reggiani LB, Pepe G, Kaufmann U, Negrini E, von Kodolitsch Y, Gensini GF (1999) Importance of dural ectasia in phenotypic assessment of Marfan’s syndrome. Lancet 354:910–913PubMedCrossRef Fattori R, Nienaber CA, Descovich B, Ambrosetto P, Reggiani LB, Pepe G, Kaufmann U, Negrini E, von Kodolitsch Y, Gensini GF (1999) Importance of dural ectasia in phenotypic assessment of Marfan’s syndrome. Lancet 354:910–913PubMedCrossRef
5.
Zurück zum Zitat De Paepe A (1999) Dural ectasia and the diagnosis of the Marfan’s syndrome. Lancet 354:878–879PubMedCrossRef De Paepe A (1999) Dural ectasia and the diagnosis of the Marfan’s syndrome. Lancet 354:878–879PubMedCrossRef
6.
Zurück zum Zitat Oosterhof T, Groenink M, Hulsmans FJ, Mulder BJM, van der Wall EE, Smit R, Hennekam RCM (2001) Quantitative assessment of dural ectasia as a marker for Marfan syndrome. Radiology 220:514–518PubMed Oosterhof T, Groenink M, Hulsmans FJ, Mulder BJM, van der Wall EE, Smit R, Hennekam RCM (2001) Quantitative assessment of dural ectasia as a marker for Marfan syndrome. Radiology 220:514–518PubMed
7.
Zurück zum Zitat Pyeritz RE, Fishman EK, Bernhardt BA, Siegelman SS (1988) Dural ectasia is a common feature of the Marfan syndrome. Am J Hum Genet 43:726–732PubMed Pyeritz RE, Fishman EK, Bernhardt BA, Siegelman SS (1988) Dural ectasia is a common feature of the Marfan syndrome. Am J Hum Genet 43:726–732PubMed
8.
Zurück zum Zitat Ahn NU, Sponseller PD, Ahn UM, Nallamshetty L, Rose PS, Buchowski JM, Garrett ES, Kuszyk BS, Fishman EK, Zinreich SJ (2000) Dural ectasia in the Marfan syndrome: MR and CT findings and criteria. Genet Med 2:173–179PubMedCrossRef Ahn NU, Sponseller PD, Ahn UM, Nallamshetty L, Rose PS, Buchowski JM, Garrett ES, Kuszyk BS, Fishman EK, Zinreich SJ (2000) Dural ectasia in the Marfan syndrome: MR and CT findings and criteria. Genet Med 2:173–179PubMedCrossRef
9.
Zurück zum Zitat Ho NC, Hadley DW, Jain PK, Francomano CA (2002) Dural ectasia associated with Marfan syndrome. Radiology 223:767–771PubMedCrossRef Ho NC, Hadley DW, Jain PK, Francomano CA (2002) Dural ectasia associated with Marfan syndrome. Radiology 223:767–771PubMedCrossRef
10.
Zurück zum Zitat Foran JRH, Pyeritz RE, Dietz HC, Sponseller PD (2005) Characterization of the symptoms associated with dural ectasia in the Marfan patient. Am J Med Genet 134A:58–65CrossRefPubMed Foran JRH, Pyeritz RE, Dietz HC, Sponseller PD (2005) Characterization of the symptoms associated with dural ectasia in the Marfan patient. Am J Med Genet 134A:58–65CrossRefPubMed
11.
Zurück zum Zitat Weigang E, Ghanem N, Chang XC, Richter H, Frydrychowicz A, Szabó G, Dudeck O, Knirsch W, von Samson P, Langer M, Beyersdorf F (2006) Evaluation of three different measurement methods for dural ectasia in Marfan syndrome. Clin Radiol 61:971–978PubMedCrossRef Weigang E, Ghanem N, Chang XC, Richter H, Frydrychowicz A, Szabó G, Dudeck O, Knirsch W, von Samson P, Langer M, Beyersdorf F (2006) Evaluation of three different measurement methods for dural ectasia in Marfan syndrome. Clin Radiol 61:971–978PubMedCrossRef
12.
Zurück zum Zitat Abd El-Aleem A, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M (1999) Identification of 9 novel FBN1 mutations in German patients with Marfan Syndrome. Hum Mutat Online 14:181 Abd El-Aleem A, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M (1999) Identification of 9 novel FBN1 mutations in German patients with Marfan Syndrome. Hum Mutat Online 14:181
13.
Zurück zum Zitat Rommel K, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M (2002) Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan Syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations. Hum Mutat 20:406–407PubMedCrossRef Rommel K, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M (2002) Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan Syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations. Hum Mutat 20:406–407PubMedCrossRef
14.
Zurück zum Zitat Rommel K, Karck M, Haverich A, von Kodolitsch Y, Rybczynski M, Müller G, Singh KK, Schmidtke J, Arslan-Kirchner M (2005) Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan Syndrome. Hum Mutat 26(6):529–539PubMedCrossRef Rommel K, Karck M, Haverich A, von Kodolitsch Y, Rybczynski M, Müller G, Singh KK, Schmidtke J, Arslan-Kirchner M (2005) Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan Syndrome. Hum Mutat 26(6):529–539PubMedCrossRef
15.
Zurück zum Zitat Söylen B, Singh KK, Abuzainin A, Becker H, Arslan-Kirchner M, Schmidtke J (2009) Prevalence of dural ectasia in 63 gene mutation positive patients with features of Marfan syndrome type 1 and Loeys-Dietz-Syndrome and report of 22 novel FBN1 mutations. Clin Genet (in press) Söylen B, Singh KK, Abuzainin A, Becker H, Arslan-Kirchner M, Schmidtke J (2009) Prevalence of dural ectasia in 63 gene mutation positive patients with features of Marfan syndrome type 1 and Loeys-Dietz-Syndrome and report of 22 novel FBN1 mutations. Clin Genet (in press)
16.
Zurück zum Zitat Villeirs GM, Van Tongerloo AJ, Verstraete KL (1999) Widening of the spinal canal and dural ectasia in Marfan’s syndrome: assessment by CT. Neuroradiology 41:850–854PubMedCrossRef Villeirs GM, Van Tongerloo AJ, Verstraete KL (1999) Widening of the spinal canal and dural ectasia in Marfan’s syndrome: assessment by CT. Neuroradiology 41:850–854PubMedCrossRef
17.
Zurück zum Zitat Altman A, Uliel L, Caspi L (2008) Dural ectasia as presenting symptom of Marfan syndrome. Isr Med Assoc J 10:194–195PubMed Altman A, Uliel L, Caspi L (2008) Dural ectasia as presenting symptom of Marfan syndrome. Isr Med Assoc J 10:194–195PubMed
Metadaten
Titel
Performance of a new quantitative method for assessing dural ectasia in patients with FBN1 mutations and clinical features of Marfan syndrome
verfasst von
Bahar Söylen
Kerstin Hinz
Jana Prokein
Hartmut Becker
Jörg Schmidtke
Mine Arslan-Kirchner
Publikationsdatum
01.06.2009
Verlag
Springer-Verlag
Erschienen in
Neuroradiology / Ausgabe 6/2009
Print ISSN: 0028-3940
Elektronische ISSN: 1432-1920
DOI
https://doi.org/10.1007/s00234-009-0508-9

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