New insights in the pathogenesis of Marfan syndrome and related disorders. From clinic to bench to clinic;Fortschritt in der pathogenese des Marfan-syndroms und verwandter krankheiten. Von der klinik zum labor und zurück

Medizinische Genetik

Volumn 20, Issue 1, 2008, Pages 6-17

  Callewaert, B L ^a   De Paepe, A M ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

Aortic dissection; Cardiovascular risks; Marfan syndrome; MFS related disorders; TGF signalling

Indexed keywords

AORTA ANEURYSM; AORTA DISSECTION; CARDIOVASCULAR RISK; CLINICAL RESEARCH; CUTIS LAXA; DIFFERENTIAL DIAGNOSIS; EHLERS DANLOS SYNDROME; GENE MUTATION; HUMAN; MARFAN SYNDROME; MORBIDITY; MORTALITY; PATHOGENESIS; PHENOTYPE; PREVALENCE; REVIEW; SIGNAL TRANSDUCTION;

EID: 44149104572     PISSN: 09365931     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11825-008-0090-2     Document Type: Review

References (49)

1. Ades L (2007) Guidelines for the diagnosis and management of Marfan syndrome. Heart Lung Circulation 16: 28-30
2. Andelfinger G, Tapper AR, Welch RC, Vanoye CG et al. (2002) KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. Am J Hum Genet 71: 663-668
3. Beighton P, de Paepe A, Danks D, Finidori G et al. (1988) International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986. Am J Med Genet 29: 581-594
4. Callewaert BL, Willaert A, Kerstjens-Frederikse WS, De Backer J et al. (2008) Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. Hum Mutat 29: 150-158
5. Coady MA, Davies RR, Roberts M, Goldstein LJ et al. (1999) Familial patterns of thoracic aortic aneurysms. Arch Surg 134: 361-367
6. Cohn RD, van Erp C, Habashi JP, Soleimani AA et al. (2007) Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states. Nat Med 13: 204-210
7. Coucke PJ, Willaert A, Wessels MW, Callewaert B et al. (2006) Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet 38: 452-457
8. Dagoneau N, Benoist-Lasselin C, Huber C, Faivre L et al. (2004) ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet 75: 801-806
9. De Backer J, Loeys B, Devos D, Dietz H et al. (2006) A critical analysis of minor cardiovascular criteria in the diagnostic evaluation of patients with Marfan syndrome. Genet Med 8: 401-408
10. De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE (1996) Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 62: 417-426
11. Dietz HC, Cutting GR, Pyeritz RE, Maslen CL et al. (1991) Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 352: 337-339
12. Faivre L, Gorlin RJ, Wirtz MK, Godfrey M et al. (2003) In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet 40: 34-36
13. Fattori R, Nienaber CA, Descovich B, Ambrosetto P et al. (1999) Importance of dural ectasia in phenotypic assessment of Marfan's syndrome. Lancet 354: 910-913
14. Garg V, Muth AN, Ransom JF, Schluterman MK et al. (2005) Mutations in NOTCH1 cause aortic valve disease. Nature 437: 270-274
15. Grahame R, Pyeritz RE (1995) The Marfan syndrome: joint and skin manifestations are prevalent and correlated. Br J Rheumatol 34: 126-131
16. Guo DC, Pannu H, Tran-Fadulu V, Papke CL et al. (2007) Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet 39: 1488-93
17. Habashi JP, Judge DP, Holm TM, Cohn RD et al. (2006) Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 312: 117-121
18. Hucthagowder V, Sausgruber N, Kim KH, Angle B et al. (2006) Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. Am J Hum Genet 78: 1075-1080
19. Kallenbach K, Baraki H, Khaladj N, Kamiya H et al. (2007) Aortic valve-sparing operation in Marfan syndrome: what do we know after a decade? Ann Thorac Surg 83: S764-768; discussion S785-790
20. Loeys B, De Backer J, Van Acker P, Wettinck K et al. (2004) Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. Hum Mutat 24: 140-146
21. Loeys B, Nuytinck L, Delvaux I, De Bie S, De Paepe A (2001) Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. Arch Intern Med 161: 2447-2454
22. Loeys B, Van Maldergem L, Mortier G, Coucke P et al. (2002) Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Hum Mol Genet 11: 2113-2118
23. Loeys BL, Chen J, Neptune ER, Judge DP et al. (2005) A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 37: 275-281
24. Loeys BL, Schwarze U, Holm T, Callewaert BL et al. (2006) Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 355: 788-798
25. Malfait F, Symoens S, De Backer J, Hermanns-Le T et al. (2007) Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood. Hum Mutat 28: 387-395
26. Markova D, Zou Y, Ringpfeil F, Sasaki T et al. (2003) Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. Am J Hum Genet 72: 998-1004
27. Martin LJ, Ramachandran V, Cripe LH, Hinton RB et al. (2007) Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations. Hum Genet 121: 275-84
28. Matyas G, Giunta C, Steinmann B, Hossle JP, Hellwig R (2002) Quantification of single nucleotide polymorphisms: a novel method that combines primer extension assay and capillary electrophoresis. Hum Mutat 19: 58-68
29. Maumenee IH (1981) The eye in the Marfan syndrome. Trans Am Ophthalmol Soc 79: 684-733
30. Milewicz DM, Dietz HC, Miller DC (2005) Treatment of aortic disease in patients with Marfan syndrome. Circulation 111: e150-157
31. Milewicz DM, Michael K, Fisher N, Coselli JS et al. (1996) Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms. Circulation 94: 2708-2711
32. Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M et al. (2004) Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet 36: 855-860
33. Montgomery RA, Geraghty MT, Bull E, Gelb BD et al. (1998) Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome. Am J Hum Genet 63: 1703-1711
34. Neptune ER, Frischmeyer PA, Arking DE, Myers L et al. (2003) Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet 33: 407-411
35. Nkomo VT, Enriquez-Sarano M, Ammash NM, Melton LJ, 3rd et al. (2003) Bicuspid aortic valve associated with aortic dilatation: a community-based study. Arterioscler Thromb Vasc Biol 23: 351-356
36. Pannu H, Fadulu VT, Chang J, Lafont A et al. (2005) Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. Circulation 112: 513-520
37. Pannu H, Tran-Fadulu V, Papke CL, Scherer S et al. (2007) MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II. Hum Mol Genet 16: 3453-3462
38. Pepin M, Schwarze U, Superti-Furga A, Byers PH (2000) Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med 342: 673-680
39. Putnam EA, Zhang H, Ramirez F, Milewicz DM (1995) Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. Nat Genet 11: 456-458
40. Pyeritz R (1997) Marfan syndrome and other disorders of fibrillin. In: Rimoin JC, Pyeritz RE (eds) Principles and practice of medical genetics, 3rd edn. Churchill Livingstone, New York, p 1027-1066
41. Robinson PN, Arteaga-Solis E, Baldock C, Collod-Beroud G et al. (2006) The molecular genetics of Marfan syndrome and related disorders. J Med Genet 43: 769-787
42. Roman MJ, Devereux RB, Kramer-Fox R, O'Loughlin J (1989) Two-dimensional echocardiographic aortic root dimensions in normal children and adults. Am J Cardiol 64: 507-512
43. Shores J, Berger KR, Murphy EA, Pyeritz RE (1994) Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan's syndrome. N Engl J Med 330: 1335-1341
44. Silverman DI, Burton KJ, Gray J, Bosner MS et al. (1995) Life expectancy in the Marfan syndrome. Am J Cardiol 75: 157-160
45. Sisk HE, Zahka KG, Pyeritz RE (1983) The Marfan syndrome in early childhood: analysis of 15 patients diagnosed at less than 4 years of age. Am J Cardiol 52: 353-358
46. Tassabehji M, Metcalfe K, Hurst J, Ashcroft GS et al. (1998) An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. Hum Mol Genet 7: 1021-1028
47. Vaughan CJ, Casey M, He J, Veugelers M et al. (2001) Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder. Circulation 103: 2469-2475
48. Wenstrup RJ, Murad S, Pinnell SR (1989) Ehlers-Danlos syndrome type VI: clinical manifestations of collagen lysyl hydroxylase deficiency. J Pediatr 115: 405-409
49. Zhu L, Vranckx R, Khau Van Kien P, Lalande A et al. (2006) Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. Nat Genet 38: 343-349