Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2

Clinical Genetics

Volumn 79, Issue 6, 2011, Pages 568-574

  Sheikhzadeh, S ^a   Rybczynski, M ^a   Habermann, C R ^a   Bernhardt, A M J ^a   Arslan Kirchner, M ^b   Keyser, B ^b   Kaemmerer, H ^c   Mir, T S ^a   Staebler, A ^d   Oezdal, N ^a   Robinson, P N ^e   Berger, J ^b   Meinertz, T ^a   Von Kodolitsch, Y ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b HANNOVER MEDICAL SCHOOL   (Germany)

^c TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^d LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^e CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

Aorta; Cervical artery; Dissection; Dura; FBN1; Loeys Dietz syndrome; Marfan syndrome; Mitral valve prolapse; TGFBR1

Indexed keywords

FIBRILLIN 1; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2;

ADOLESCENT; ADULT; AORTA ANEURYSM; AORTA DISSECTION; ARTICLE; CAROTID ARTERY INJURY; CHILD; CLINICAL ARTICLE; CONNECTIVE TISSUE DISEASE; CONTROLLED STUDY; DURAL ECTASIA; FEMALE; GENE MUTATION; HUMAN; MALE; MARFAN SYNDROME; MITRAL VALVE PROLAPSE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; SCHOOL CHILD; SKELETON MALFORMATION;

ADOLESCENT; ADULT; CHILD; DIAGNOSIS, DIFFERENTIAL; DILATATION, PATHOLOGIC; DNA MUTATIONAL ANALYSIS; DURA MATER; FEMALE; GENETIC TESTING; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MIDDLE AGED; MUTATION; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; SINUS OF VALSALVA; YOUNG ADULT;

EID: 79955621826     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01494.x     Document Type: Article

References (38)

1. Pyeritz RE, Fishman EK, Bernhardt BA et al. Dural ectasia is a common feature of the Marfan syndrome. Am J Hum Genet 1988: 43: 726-732.
2. Fattori R, Nienaber CA, Descovich B et al. Importance of dural ectasia in phenotypic assessment of Marfan's syndrome. Lancet 1999: 354: 910-913.
3. Ahn NU, Sponseller PD, Ahn UM et al. Dural ectasia in the Marfan syndrome: MR and CT findings and criteria. Genet Med 2000: 2: 173-179.
4. Jones KB, Sponseller PD, Erkula G et al. Symposium on the musculoskeletal aspects of Marfan syndrome: meeting report and state of the science. J Orthop Res 2007: 25: 413-422.
5. Foran JR, Pyeritz RE, Dietz HC et al. Characterization of the symptoms associated with dural ectasia in the Marfan patient. Am J Med Genet A 2005: 134A: 58-65.
6. Nallamshetty L, Ahn NU, Ahn UM et al. Dural ectasia and back pain: review of the literature and case report. J Spinal Disord Tech 2002: 15: 326-329.
7. Voermans N, Timmermans J, van Alfen N et al. Neuromuscular features in Marfan syndrome. Clin Genet 2009: 76: 25-37.
8. Davenport RJ, Chataway SJ, Warlow CP. Spontaneous intracranial hypotension from a CSF leak in a patient with Marfan's syndrome. J Neurol Neurosurg Psychiatry 1995: 59: 516-519.
9. Schrijver I, Schievink WI, Godfrey M et al. Spontaneous spinal cerebrospinal fluid leaks and minor skeletal features of Marfan syndrome: a microfibrillopathy. J Neurosurg 2002: 96: 483-489.
10. Schievink WI. Spontaneous spinal cerebrospinal fluid leaks and intracranial hypotension. JAMA 2006: 295: 2286-2296.
11. Jones KB, Erkula G, Sponseller PD et al. Spine deformity correction in Marfan syndrome. Spine (Phila Pa 1976) 2002: 27: 2003-2012.
12. Lacassie HJ, Millar S, Leithe LG et al. Dural ectasia: a likely cause of inadequate spinal anaesthesia in two parturients with Marfan's syndrome. Br J Anaesth 2005: 94: 500-504.
13. Rybczynski M, Bernhardt AM, Rehder U et al. The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome. Am J Med Genet A 2008: 146A: 3157-3166.
14. Soylen B, Singh KK, Abuzainin A et al. 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 2009: 75: 265-270.
15. von Kodolitsch Y, Robinson PN. Marfan syndrome: an update of genetics, medical and surgical management. Heart 2007: 93: 755-760.
16. Loeys BL, Schwarze U, Holm T et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 2006: 355: 788-798.
17. von Kodolitsch Y, Rybczynski M, Bernhardt A et al. Marfan syndrome and the evolving spectrum of heritable thoracic aortic disease: do we need genetics for clinical decisions? VASA 2010: 39: 17-32.
18. Judge DP, Dietz HC. Marfan's syndrome. Lancet 2005: 366 (9501): 1965-1976.
19. Matt P, Schoenhoff F, Habashi J et al. Circulating transforming growth factor-beta in Marfan syndrome. Circulation 2009: 120: 526-532.
20. Jones KB, Myers L, Judge DP et al. Toward an understanding of dural ectasia: a light microscopy study in a murine model of Marfan syndrome. Spine (Phila Pa 1976) 2005: 30: 291-293.
21. Beighton P, De Paepe A, Steinmann B et al. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet 1998: 77: 31-37.
22. De Paepe A, Devereux RB, Dietz HC et al. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996: 62: 417-426.
23. Mortensen K, Aydin MA, Rybczynski M et al. Augmentation index relates to progression of aortic disease in adults with Marfan syndrome. Am J Hypertens 2009: 22: 971-979.
24. Du Bois D, Du Bois EF. A formula to estimate the approximate surface area if height and weight be known. 1916. Nutrition 1989: 5: 303-311 (discussion 312-303).
25. Roman MJ, Devereux RB, Kramer-Fox R, O'Ranghlin J. Two dimensional aortic root dimensions in normal children and adults. Am J Cardiol 1989: 64: 507-512.
26. Schievink WI. Spontaneous dissection of the carotid and vertebral arteries. N Engl J Med 2001: 344: 898-906.
27. Habermann CR, Weiss F, Schoder V et al. MR evaluation of dural ectasia in Marfan syndrome: reassessment of the established criteria in children, adolescents, and young adults. Radiology 2005: 234: 535-541.
28. Rommel K, Karck M, Haverich A et al. Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. Hum Mutat 2005: 26: 529-539.
29. Singh KK, Rommel K, Mishra A et al. TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. Hum Mutat 2006: 27: 770-777.
30. Schouten JP, McElgunn CJ, Waaijer R et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002: 30: e57.
31. Loeys B, De Backer J, Van Acker P et al. Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. Hum Mutat 2004: 24: 140-146.
32. Brandt T, Orberk E, Weber R et al. Pathogenesis of cervical artery dissections: association with connective tissue abnormalities. Neurology 2001: 57: 24-30.
33. Debette S, Markus HS. The genetics of cervical artery dissection: a systematic review. Stroke 2009: 40: e459-e466.
34. Roman MJ, Devereux RB, Kramer-Fox R et al. Comparison of cardiovascular and skeletal features of primary mitral valve prolapse and Marfan syndrome. Am J Cardiol 1989: 63: 317-321.
35. Glesby MJ, Pyeritz RE. Association of mitral valve prolapse and systemic abnormalities of connective tissue. A phenotypic continuum. JAMA 1989: 262: 523-528.
36. Jonszta T, Prochazka V, Czerny D et al. Detection of dural ectasia in diagnosis of Marfan's syndrome. VASA 2008: 37: 364-370.
37. Robinson PN, Arteaga-Solis E, Baldock C et al. The molecular genetics of Marfan syndrome and related disorders. J Med Genet 2006: 43: 769-787.
38. Coucke P, Van Acker P, De Paepe A. Mutation analysis of the FBN1 gene in patients with Marfan syndrome. Methods Mol Med 2006: 126: 81-95.