Journal of Forensic and Legal Medicine
Volume 15, Issue 4 , Pages 205-209 , May 2008

Marfan syndrome and sudden death within a family – Aetiologic, molecular and diagnostic issues at autopsy

  • Rena Hirani, PhD

      Affiliations

    • Discipline of Pathology, Level 3 Medical School North Building, University of Adelaide, Frome Road, Adelaide 5005, South Australia, Australia
    • ,
  • Barbara Koszyca, MBBS, PhD

      Affiliations

    • Discipline of Pathology, Level 3 Medical School North Building, University of Adelaide, Frome Road, Adelaide 5005, South Australia, Australia
    • Forensic Science SA, Adelaide 5005, South Australia, Australia
    • ,
  • Roger W. Byard, MBBS, MD

      Affiliations

    • Discipline of Pathology, Level 3 Medical School North Building, University of Adelaide, Frome Road, Adelaide 5005, South Australia, Australia
    • Forensic Science SA, Adelaide 5005, South Australia, Australia
    • Corresponding Author InformationCorresponding author. Address: Discipline of Pathology, Level 3 Medical School North Building, University of Adelaide, Frome Road, Adelaide 5005, South Australia, Australia. Tel.: +61 8 8303 5441; fax: +61 8 8303 4408.

Received 29 April 2007 ,Accepted 15 July 2007.

References 

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  2. Byard RW. Miscellaneous conditions. In: Sudden death in infancy childhood and adolescence. 2nd ed.. Cambridge: Cambridge University Press; 2004;p. 469–488[chapter 12]
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  11. Pereira L, Lee SY, Gayraud B, Andrikopoulos K, Shapiro SD, Bunton T, et al. Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1. Proc Natl Acad Sci USA. 1999;96:3819–3823
  12. Ramirez F, Gayraud B, Pereira L. Marfan syndrome: new clues to genotype–phenotype correlations. Ann Med. 1999;31:202–207
  13. Kielty CM, Sherratt MJ, Marson A, Baldock C. Fibrillin microfibrils. Adv Protein Chem. 2005;70:405–436
  14. Whiteman P, Handford PA. Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders. Hum Mol Genet. 2003;12:727–737
  15. Kainulainen K, Karttunen L, Puhakka L, Sakai L, Peltonen L. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal marfan syndrome. Nat Genet. 1994;6:64–69
  16. Putnam EA, Cho M, Zinn AB, Towbin JA, Byers PH, Milewicz DM. Delineation of the Marfan phenotype associated with mutations in exons 23–32 of the FBN1 gene. Am J Med Genet. 1996;62:233–242
  17. Tiecke F, Katzke S, Booms P, Robinson PN, Neumann L, Godfrey M, et al. Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype–phenotype correlations in FBN1 exons 24–40. Eur J Hum Genet. 2001;9:13–21
  18. Isogai Z, Ono RN, Ushiro S, Keene DR, Chen Y, Mazzieri R, et al. Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein. J Biol Chem. 2003;278:2750–2757
  19. Neptune ER, Frischmeyer PA, Arking DE, Myers L, Bunton TE, Gayraud B, et al. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet. 2003;33:407–411
  20. Disabella E, Grasso M, Marziliano N, Ansaldi S, Lucchelli C, Porcu E, et al. Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects. Eur J Hum Genet. 2006;14:34–38
  21. Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, et al. Aneurysm syndromes caused by mutations in the TGF-β receptor. N Engl J Med. 2006;355:788–798
  22. Mátyás G, Arnold E, Carrel T, Baumgartner D, Boileau C, Berger W, et al. Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Hum Mutat. 2006;27:760–769
  23. Gelb BD. Marfan’s syndrome and related disorders – more tightly connected than we thought. N Engl J Med. 2006;355:841–844
  24. Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, et al. Heterogeneous TGFBR2 mutations in Marfan syndrome. Nat Genet. 2004;36:855–860
  25. Ng CM, Cheng A, Myers LA, Martinez-Murillo F, Jie C, Bedja D, et al. TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. J Clin Invest. 2004;114:1586–1592
  26. Akhurst RJ. TGF-β signalling in health and disease. Nat Genet. 2004;36:790–792
  27. Ades LC, Sullivan K, Biggin A, Haan EA, Brett M, Holman KJ, et al. FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. Am J Med Genet. 2006;140:1047–1058

PII: S1752-928X(07)00115-1

doi: 10.1016/j.jflm.2007.07.010

Journal of Forensic and Legal Medicine
Volume 15, Issue 4 , Pages 205-209 , May 2008

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