The genetic message of a sudden, unexpected death due to thoracic aortic dissection

Forensic Science International

Volumn 187, Issue 1-3, 2009, Pages 1-5

  Ripperger, Tim ^a   Tröger, Hans Dieter ^a   Schmidtke, Jörg ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

Loeys Dietz syndrome; Marfan syndrome; Thoracic aortic aneurysms dissections

Indexed keywords

ADULT; AUTOPSY; CASE REPORT; DIFFERENTIAL DIAGNOSIS; EARLY DIAGNOSIS; FAMILY; FBN1 GENE; FEMALE; GENE MUTATION; GENETIC COUNSELING; GENETIC DISORDER; HUMAN; HUMAN TISSUE; INFORMATION PROCESSING; INTRON; LEGAL ASPECT; LOEYS DIETZ SYNDROME; MALE; MARFAN SYNDROME; MEDICAL DOCUMENTATION; MEDICAL PRACTICE; MEDICOLEGAL ASPECT; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; REVIEW; SEQUENCE ANALYSIS; SUDDEN DEATH; TGFBR1 GENE; TGFBR2 GENE; THORACIC AORTA ANEURYSM; THORACIC AORTA SURGERY; VICTIM;

EID: 64249141473     PISSN: 03790738     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.forsciint.2009.01.020     Document Type: Review

References (35)

1. Pyeritz R.E. The Marfan syndrome. Annu. Rev. Med. 51 (2000) 481-510
2. Who named it?, http://www.whonamedit.com/doctor.cfm/972.html, 21-8-2008.
3. Pannu H., Tran-Fadulu V., and Milewicz D.M. Genetic basis of thoracic aortic aneurysms and aortic dissections. Am. J. Med. Genet. C Semin. Med. Genet. 139C (2005) 10-16
4. Milewicz D.M., Guo D.C., Tran-Fadulu V., Lafont A.L., Papke C.L., Inamoto S., and Pannu H. Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction. Annu. Rev. Genomics Hum. Genet. 9 (2008) 283-302
5. Albornoz G., Coady M.A., Roberts M., Davies R.R., Tranquilli M., Rizzo J.A., and Elefteriades J.A. Familial thoracic aortic aneurysms and dissections--incidence, modes of inheritance, and phenotypic patterns. Ann. Thorac. Surg. 82 (2006) 1400-1405
6. Callewaert B.L., and De Paepe A.M. New insights in the pathogenesis of Marfan syndrome and related disorders. From clinic to bench to clinic. Medgen 20 (2008) 6-17
7. Loeys B., Nuytinck L., Delvaux I., De Bie S., and De Paepe A. Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. Arch. Int. Med. 161 (2001) 2447-2454
8. Rommel K., Karck M., Haverich A., Schmidtke J., and Arslan-Kirchner M. 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 (2002) 406-407
9. Rommel K., Karck M., Haverich A., von Kodolitsch Y., Rybczynski M., Muller G., Singh K.K., Schmidtke J., and Arslan-Kirchner M. Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. Hum. Mutat. 26 (2005) 529-539
10. Singh K.K., Rommel K., Mishra A., Karck M., Haverich A., Schmidtke J., and Arslan-Kirchner M. TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. Hum. Mutat. 27 (2006) 770-777
11. Schouten J.P., McElgunn C.J., Waaijer R., Zwijnenburg D., Diepvens F., and Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 30 (2002) e57
12. Dietz H.C., McIntosh I., Sakai L.Y., Corson G.M., Chalberg S.C., Pyeritz R.E., and Francomano C.A. Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. Genomics 17 (1993) 468-475
13. Matyas G., Arnold E., Carrel T., Baumgartner D., Boileau C., Berger W., and Steinmann B. Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Hum. Mutat. 27 (2006) 760-769
14. H.C. Dietz, G.R. Cutting, R.E. Pyeritz, C.L. Maslen, L.Y. Sakai, G.M. Corson, E.G. Puffenberger, A. Hamosh, E.J. Nanthakumar, S.M. Curristin, Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 352 (1991) 337-339.
15. De Paepe A., Devereux R.B., Dietz H.C., Hennekam R.C., and Pyeritz R.E. Revised diagnostic criteria for the Marfan syndrome. Am. J. Med. Genet. 62 (1996) 417-426
16. Dean J.C. Marfan syndrome: clinical diagnosis and management. Eur. J. Hum. Genet. 15 (2007) 724-733
17. Faivre L., Collod-Beroud G., Child A., Callewaert B., Loeys B.L., Binquet C., Gautier E., Arbustini E., Mayer K., Arslan-Kirchner M., Stheneur C., Kiotsekoglou A., Comeglio P., Marziliano N., Halliday D., Beroud C., Bonithon-Kopp C., Claustres M., Plauchu H., Robinson P.N., Ades L., De Backer J., Coucke P., Francke U., De Paepe A., Boileau C., and Jondeau G. Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands. J. Med Genet. 45 (2008) 384-390
18. De Backer J., Loeys B., Leroy B., Coucke P., Dietz H., and De Paepe A. Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome. Clin. Genet. 72 (2007) 188-198
19. Loeys B., De Backer J., Van Acker P., Wettinck K., Pals G., Nuytinck L., Coucke P., and De Paepe A. Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. Hum. Mutat. 24 (2004) 140-146
20. Robinson P.N., Arteaga-Solis E., Baldock C., Collod-Beroud G., Booms P., De Paepe A., Dietz H.C., Guo G., Handford P.A., Judge D.P., Kielty C.M., Loeys B., Milewicz D.M., Ney A., Ramirez F., Reinhardt D.P., Tiedemann K., Whiteman P., and Godfrey M. The molecular genetics of Marfan syndrome and related disorders. J. Med. Genet. 43 (2006) 769-787
21. Arslan-Kirchner M., von Kodolitsch Y., and Schmidtke J. The importance of Genetic Testing in the Clinical Management of Patients With Marfan Syndrome and Related Disorders. Dtsch. Arztebl. Int. 105 (2008) 483-491
22. Furlong J., Kurczynski T.W., and Hennessy J.R. New Marfanoid syndrome with craniosynostosis. Am. J. Med. Genet. 26 (1987) 599-604
23. Loeys B.L., Chen J., Neptune E.R., Judge D.P., Podowski M., Holm T., Meyers J., Leitch C.C., Katsanis N., Sharifi N., Xu F.L., Myers L.A., Spevak P.J., Cameron D.E., De Backer J., Hellemans J., Chen Y., Davis E.C., Webb C.L., Kress W., Coucke P., Rifkin D.B., De Paepe A.M., and Dietz H.C. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat. Genet. 37 (2005) 275-281
24. Loeys B.L., Schwarze U., Holm T., Callewaert B.L., Thomas G.H., Pannu H., De Backer J.F., Oswald G.L., Symoens S., Manouvrier S., Roberts A.E., Faravelli F., Greco M.A., Pyeritz R.E., Milewicz D.M., Coucke P.J., Cameron D.E., Braverman A.C., Byers P.H., De Paepe A.M., and Dietz H.C. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N. Engl. J. Med. 355 (2006) 788-798
25. Mizuguchi T., Collod-Beroud G., Akiyama T., Abifadel M., Harada N., Morisaki T., Allard D., Varret M., Claustres M., Morisaki H., Ihara M., Kinoshita A., Yoshiura K., Junien C., Kajii T., Jondeau G., Ohta T., Kishino T., Furukawa Y., Nakamura Y., Niikawa N., Boileau C., and Matsumoto N. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat. Genet. 36 (2004) 855-860
26. von Kodolitsch Y., and Robinson P.N. Marfan syndrome: an update of genetics, medical and surgical management. Heart 93 (2007) 755-760
27. Weigang E., Chang X.C., Munk-Schulenburg S., Richter H., von Samson P., Goebel H., Frydrychowicz A., Geibel A., Ammann S., Schwering L., Brunner T., Severin T., Czerny M., and Beyersdorf F. Actual management of patients with familial ascending aortic aneurysms and type-A aortic dissections. Thorac. Cardiovasc. Surg. 55 (2007) 19-23
28. de la Grandmaison G.L. Is there progress in the autopsy diagnosis of sudden unexpected death in adults?. Forensic. Sci. Int. 156 (2006) 138-144
29. Recommendation no. R (99) 3 of the Committee of Ministers to member states on the harmonization of medico-legal autopsy rules, Forensic. Sci Int. 111 (2000) 5-58.
30. Gray J.R., Bridges A.B., West R.R., McLeish L., Stuart A.G., Dean J.C., Porteous M.E., Boxer M., and Davies S.J. Life expectancy in British Marfan syndrome populations. Clin. Genet. 54 (1998) 124-128
31. Silverman D.I., Burton K.J., Gray J., Bosner M.S., Kouchoukos N.T., Roman M.J., Boxer M., Devereux R.B., and Tsipouras P. Life expectancy in the Marfan syndrome. Am. J. Cardiol. 75 (1995) 157-160
32. Bain M.A., Zumwalt R.E., and Bel-Kahn J. Marfan syndrome presenting as aortic rupture in a young athlete: sudden unexpected death?. Am. J. Forensic. Med. Pathol. 8 (1987) 334-337
33. Rutberg J., Green M.S., Gow R.M., Geraghty M.T., Honeywell C., Ewen J., Birnie D.H., Tang A., Lemery R., and Gollob M.H. Molecular autopsy in the sudden cardiac death of a young woman: a first Canadian report. Can. J. Cardiol. 23 (2007) 904-906
34. Klintschar M., Bilkenroth U., Arslan-Kirchner M., Schmidtke J., and Stiller D. Marfan syndrome: clinical consequences resulting from a medicolegal autopsy of a case of sudden death due to aortic rupture. Int. J. Leg. Med. 123 (2009) 55-58
35. Hirani R., Koszyca B., and Byard R.W. Marfan syndrome and sudden death within a family - aetiologic, molecular and diagnostic issues at autopsy. J. Forensic Leg. Med. 15 (2008) 205-209