Ehlers-Danlos syndromes and Marfan syndrome

Best Practice and Research: Clinical Rheumatology

Volumn 22, Issue 1, 2008, Pages 165-189

  Callewaert, Bert ^a   Malfait, Fransiska ^a   Loeys, Bart ^a   De Paepe, Anne ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

clinical features; differential diagnosis; Ehlers Danlos syndromes; management; Marfan syndrome; molecular pathogenesis

Indexed keywords

ACETYLSALICYLIC ACID; ANTIBIOTIC AGENT; ANTIINFLAMMATORY AGENT; ASCORBIC ACID; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CALCIUM ANTAGONIST; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; LOSARTAN; PARACETAMOL; PROCOLLAGEN; PROTEOGLYCAN;

ARTHRALGIA; BACTERIAL ENDOCARDITIS; CLINICAL FEATURE; COMPUTED TOMOGRAPHIC ANGIOGRAPHY; COPING BEHAVIOR; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; DRUG POTENTIATION; EHLERS DANLOS SYNDROME; GENE DELETION; GENE MAPPING; GENETIC COUNSELING; HOMOZYGOSITY; HUMAN; JOINT MOBILITY; KINESIOTHERAPY; MAGNETIC RESONANCE ANGIOGRAPHY; MARFAN SYNDROME; MISSENSE MUTATION; MITRAL VALVE PROLAPSE; MOLECULAR MECHANICS; PATHOGENESIS; PREVALENCE; PRIORITY JOURNAL; PROTECTIVE CLOTHING; PROTEIN DEFICIENCY; PSYCHOTHERAPY; REVIEW; SEQUENCE ANALYSIS; SKIN MANIFESTATION; TREATMENT CONTRAINDICATION;

CARDIOVASCULAR SYSTEM; COLLAGEN; COLLAGEN TYPE I; DIAGNOSIS, DIFFERENTIAL; EHLERS-DANLOS SYNDROME; HUMANS; MARFAN SYNDROME; RANGE OF MOTION, ARTICULAR;

EID: 40149087334     PISSN: 15216942     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.berh.2007.12.005     Document Type: Review

References (80)

1. Steinmann B., Royce P., and Superti-Furga A. The Ehlers-Danlos syndrome. In: Royce P., and Steinmann B. (Eds). Connective Tissue and its Heritable Disorders. 2nd edn. (2002), Wiley-Liss, Inc., New York 431-523
2. Beighton P., de Paepe A., Danks D., et al. International nosology of heritable disorders of connective tissue, Berlin, 1986. American Journal of Medical Genetics 29 (1988) 581-594
3. 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). American Journal of Medical Genetics 77 (1998) 31-37
4. Loeys B.L., Schwarze U., Holm T., et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. New England Journal of Medicine 355 (2006) 788-798
5. Kaler S.G., Gallo L.K., Proud V.K., et al. Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nature Genetics 8 (1994) 195-202
6. Mercuri E., Lampe A., Straub V., et al. Congenital muscular dystrophy with short stature, proximal contractures and distal laxity. Neuropediatrics 35 (2004) 224-229
7. Camacho Vanegas O., Bertini E., Zhang R.Z., et al. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proceedings of the National Academy of Sciences of the United States of America 98 (2001) 7516-7521
8. Pan T.C., Zhang R.Z., Sudano D.G., et al. New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. American Journal of Human Genetics 73 (2003) 355-369
9. Baker N.L., Morgelin M., Peat R., et al. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Human Molecular Genetics 14 (2005) 279-293
10. Malfait F., Coucke P., Symoens S., et al. The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. Human Mutation 25 (2005) 28-37
11. Schalkwijk J., Zweers M.C., Steijlen P.M., et al. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. New England Journal of Medicine 345 (2001) 1167-1175
12. Greenspan D.S., Northrup H., Au K.S., et al. COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II. Genomics 25 (1995) 737-739
13. Wenstrup R.J., Langland G.T., Willing M.C., et al. A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I). Human Molecular Genetics 5 (1996) 1733-1736
14. Hata R., Kurata S., and Shinkai H. Existence of malfunctioning pro alpha2(I) collagen genes in a patient with a pro alpha 2(I)-chain-defective variant of Ehlers-Danlos syndrome. European Journal of Biochemistry 174 (1988) 231-237
15. Sasaki T., Arai K., Ono M., et al. Ehlers-Danlos syndrome. A variant characterized by the deficiency of pro alpha 2 chain of type I procollagen. Archives of Dermatology 123 (1987) 76-79
16. Schwarze U., Hata R., McKusick V.A., et al. Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. American Journal of Human Genetics 74 (2004) 917-930
17. Nuytinck L., Freund M., Lagae L., et al. Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. American Journal of Human Genetics 66 (2000) 1398-1402
18. Malfait F., Symoens S., De Backer J., et al. 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. Human Mutation 28 (2007) 387-395
19. Zweers M.C., Bristow J., Steijlen P.M., et al. Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome. American Journal of Human Genetics 73 (2003) 214-217
20. Schwarze U., Schievink W.I., Petty E., et al. Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. American Journal of Human Genetics 69 (2001) 989-1001
21. Cabral W.A., Makareeva E., Colige A., et al. Mutations near amino end of alpha 1(I) collagen cause combined OI/EDS by interference with N-propeptide processing. Journal of Biological Chemistry 280 (2005) 19259-19269
22. Makareeva E., Cabral W.A., Marini J.C., and Leikin S. Molecular mechanism of alpha 1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome: unfolding of an N-anchor domain at the N-terminal end of the type I collagen triple helix. Journal of Biological Chemistry 281 (2006) 6463-6470
23. Colige A., Sieron A.L., Li S.W., et al. Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. American Journal of Human Genetics 65 (1999) 308-317
24. Colige A., Nuytinck L., Hausser I., et al. Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (type VIIC) and common polymorphisms in the ADAMTS2 gene. Journal of Investigative Dermatology 123 (2004) 656-663
25. Danielson K.G., Baribault H., Holmes D.F., et al. Targeted disruption of decorin leads to abnormal collagen fibril morphology and skin fragility. Journal of Cell Biology 136 (1997) 729-743
26. Chakravarti S., Magnuson T., Lass J.H., et al. Lumican regulates collagen fibril assembly: skin fragility and corneal opacity in the absence of lumican. Journal of Cell Biology 141 (1998) 1277-1286
27. Takeda U., Utani A., Wu J., et al. Targeted disruption of dermatopontin causes abnormal collagen fibrillogenesis. Journal of Investigative Dermatology 119 (2002) 678-683
28. Tasheva E.S., Koester A., Paulsen A.Q., et al. Mimecan/osteoglycin-deficient mice have collagen fibril abnormalities. Molecular Vision 8 (2002) 407-415
29. Bredrup C., Knappskog P.M., Majewski J., et al. Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. Investigative Ophthalmology & Visual Science 46 (2005) 420-426
30. Rodahl E., Van Ginderdeuren R., Knappskog P.M., et al. A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy. American Journal of Ophthalmology 142 (2006) 520-521
31. Freeman R.K., Swegle J., and Sise M.J. The surgical complications of Ehlers-Danlos syndrome. American Surgeon 62 (1996) 869-873
32. Cikrit D.F., Miles J.H., and Silver D. Spontaneous arterial perforation: the Ehlers-Danlos specter. Journal of Vascular Surgery 5 (1987) 248-255
33. Marfan A. Un cas de déformation congénitale des quatres membres, plus prononcée aux extremités, caractérisée par l'allongement des os avec un certain degré d'amincissement. Bulletins et memoires de la Société medicale des hôpitaux de Paris 13 (1886) 220-228
34. Pyeritz R. Marfan syndrome and other disorders of fibrillin. In: Rimoin D.L., Conner J.M., and Pyeritz R.E. (Eds). Principles and Practice of Medical Genetics. 3rd edn. (1997), Churchill Livingstone, New York 1027-1066
35. Dietz H.C., Cutting G.R., Pyeritz R.E., et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 352 (1991) 337-339
36. De Paepe A., Devereux R.B., Dietz H.C., et al. Revised diagnostic criteria for the Marfan syndrome. American Journal of Medical Genetics 62 (1996) 417-426
37. Loeys B., De Backer J., Van Acker P., et al. Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. Human Mutation 24 (2004) 140-146
38. Loeys B., Nuytinck L., Delvaux I., et al. Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. Archives of Internal Medicine 161 (2001) 2447-2454
39. Grahame R., and Pyeritz R.E. The Marfan syndrome: joint and skin manifestations are prevalent and correlated. British Journal of Rheumatology 34 (1995) 126-131
40. Maumenee I.H. The eye in the Marfan syndrome. Transactions of the American Ophthalmological Society 79 (1981) 684-733
41. Roman M.J., Devereux R.B., Kramer-Fox R., and O'Loughlin J. Two-dimensional echocardiographic aortic root dimensions in normal children and adults. American Journal of Cardiology 64 (1989) 507-512
42. Silverman D.I., Burton K.J., Gray J., et al. Life expectancy in the Marfan syndrome. American Journal of Cardiology 75 (1995) 157-160
43. Milewicz D.M., Dietz H.C., and Miller D.C. Treatment of aortic disease in patients with Marfan syndrome. Circulation 111 (2005) e150-e157
44. De Backer J., Loeys B., Devos D., et al. A critical analysis of minor cardiovascular criteria in the diagnostic evaluation of patients with Marfan syndrome. Genetics in Medicine 8 (2006) 401-408
45. Pyeritz R.E., and Wappel M.A. Mitral valve dysfunction in the Marfan syndrome. Clinical and echocardiographic study of prevalence and natural history. American Journal of Medicine 74 (1983) 797-807
46. Sisk H.E., Zahka K.G., and Pyeritz R.E. The Marfan syndrome in early childhood: analysis of 15 patients diagnosed at less than 4 years of age. American Journal of Cardiology 52 (1983) 353-358
47. De Backer J.F., Devos D., Segers P., et al. Primary impairment of left ventricular function in Marfan syndrome. International Journal of Cardiology 112 (2006) 353-358
48. Fattori R., Nienaber C.A., Descovich B., et al. Importance of dural ectasia in phenotypic assessment of Marfan's syndrome. Lancet 354 (1999) 910-913
49. Foran J.R., Pyeritz R.E., Dietz H.C., and Sponseller P.D. Characterization of the symptoms associated with dural ectasia in the Marfan patient. American Journal of Medical Genetics 134 (2005) 58-65
50. Cohen P.R., and Schneiderman P. Clinical manifestations of the Marfan syndrome. International Journal of Dermatology 28 (1989) 291-299
51. Streeten E.A., Murphy E.A., and Pyeritz R.E. Pulmonary function in the Marfan syndrome. Chest 91 (1987) 408-412
52. Biddinger A., Rocklin M., Coselli J., and Milewicz D.M. Familial thoracic aortic dilatations and dissections: a case control study. Journal of Vascular Surgery 25 (1997) 506-511
53. Guo D., Hasham S., Kuang S.Q., et al. Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14. Circulation 103 (2001) 2461-2468
54. Vaughan C.J., Casey M., He J., et al. Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder. Circulation 103 (2001) 2469-2475
55. Pannu H., Fadulu V.T., Chang J., et al. Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. Circulation 112 (2005) 513-520
56. Braverman A.C., Guven H., Beardslee M.A., et al. The bicuspid aortic valve. Current Problems in Cardiology 30 (2005) 470-522
57. Loeys B.L., Chen J., Neptune E.R., et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nature Genetics 37 (2005) 275-281
58. Dagoneau N., Benoist-Lasselin C., Huber C., et al. ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. American Journal of Human Genetics 75 (2004) 801-806
59. Faivre L., Gorlin R.J., Wirtz M.K., et al. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. Journal of Medical Genetics 40 (2003) 34-36
60. Lieberman E.R., Gomperts E.D., Shaw K.N., et al. Homocystinuria: clinical and pathologic review, with emphasis on thrombotic features, including pulmonary artery thrombosis. Perspectives in Pediatric Pathology 17 (1993) 125-147
61. Glesby M.J., and Pyeritz R.E. Association of mitral valve prolapse and systemic abnormalities of connective tissue. A phenotypic continuum. Journal of the American Medical Association 262 (1989) 523-528
62. Montgomery R.A., Geraghty M.T., Bull E., et al. Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome. American Journal of Human Genetics 63 (1998) 1703-1711
63. Gupta P.A., Wallis D.D., Chin T.O., et al. FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly. Journal of Medical Genetics 41 (2004) e56
64. Putnam E.A., Zhang H., Ramirez F., and Milewicz D.M. Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. Nature Genetics 11 (1995) 456-458
65. Sood S., Eldadah Z.A., Krause W.L., et al. Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. Nature Genetics 12 (1996) 209-211
66. Raymond F.L., Tarpey P.S., Edkins S., et al. Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus. American Journal of Human Genetics 80 (2007) 982-987
67. Schwartz C.E., Tarpey P.S., Lubs HA., et al. The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. Journal of Medical Genetics 44 (2007) 472-477
68. Robinson P.N., Arteaga-Solis E., Baldock C., et al. The molecular genetics of Marfan syndrome and related disorders. Journal of Medical Genetics 43 (2006) 769-787
69. Neptune E.R., Frischmeyer P.A., Arking D.E., et al. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nature Genetics 33 (2003) 407-411
70. Pereira L., Andrikopoulos K., Tian J., et al. Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome. Nature Genetics 17 (1997) 218-222
71. Cohn R.D., van Erp C., Habashi J.P., et al. Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states. Nature Medicine 13 (2007) 204-210
72. Habashi J.P., Judge D.P., Holm T.M., et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 312 (2006) 117-121
73. Ades L. Guidelines for the diagnosis and management of Marfan syndrome. Heart, Lung and Circulation 16 (2007) 28-30
74. Shores J., Berger K.R., Murphy E.A., and Pyeritz R.E. Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan's syndrome. New England Journal of Medicine 330 (1994) 1335-1341
75. Kallenbach K., Baraki H., Khaladj N., et al. Aortic valve-sparing operation in Marfan syndrome: what do we know after a decade?. Annals of Thoracic Surgery 83 (2007) S764-S768 discussion S85-S90
76. Lawson M.L., Mellins R.B., Tabangin M., et al. Impact of pectus excavatum on pulmonary function before and after repair with the Nuss procedure. Journal of Pediatric Surgery 40 (2005) 174-180
77. Jones K.B., Erkula G., Sponseller P.D., and Dormans J.P. Spine deformity correction in Marfan syndrome. Spine 27 (2002) 2003-2012
78. Giampietro P.F., Raggio C., and Davis J.G. Marfan syndrome: orthopedic and genetic review. Current Opinion in Pediatrics 14 (2002) 35-41
79. Knudtzon J., and Aarskog D. Estrogen treatment of excessively tall girls with Marfan syndrome. Acta Paediatrica Scandinavica 77 (1988) 537-541
80. Braverman A.C. Exercise and the Marfan syndrome. Medicine and Science in Sports and Exercise 30 (1998) S387-S395