Hostname: page-component-cd9895bd7-gbm5v Total loading time: 0 Render date: 2024-12-27T22:23:59.109Z Has data issue: false hasContentIssue false
  • English
  • Français

Current insights in diagnosis and management of the cardiovascular complications of Marfan's syndrome

Published online by Cambridge University Press:  30 July 2009

Gijs J. Nollen ,
Maarten Groenink ,
Ernst E. van der Wall  and
Barbara J. M. Mulder
Gijs J. Nollen
Affiliation:
Department of Cardiology, Academic Medical Center Amsterdam, Amsterdam, The Netherlands
Maarten Groenink
Affiliation:
Department of Cardiology, Academic Medical Center Amsterdam, Amsterdam, The Netherlands
Ernst E. van der Wall
Affiliation:
Department of Cardiology, Leiden University Medical Center, Leiden, The Netherlands
Barbara J. M. Mulder*
Affiliation:
Department of Cardiology, Academic Medical Center Amsterdam, Amsterdam, The Netherlands
*
Department of Cardiology, Room B2-240, Academic Medical Center Amsterdam (AMC), Meibergdreef 9, 1100 DD Amsterdam, The Netherlands. Tel: +31 20 5667731; Fax: +31 20 5666809; E-mail: b.j.mulder@amc.uva.nl
Get access Rights & Permissions [Opens in a new window]

Abstract

Marfan's syndrome is an inherited disorder of connective tissue, caused by mutations in the fibrillin-1 gene located on chromosome 15. Diagnosis is still based on a combination of major and minor clinical features. Prognosis is mainly determined by the cardiovascular complications. Advances in surgical and medical treatment for these complications have dramatically improved the prognosis of the syndrome.

Keywords

Aortic aneurysmaortic dissectionsurvival
Type
Review
Information
Cardiology in the Young , Volume 12 , Issue 4 , July 2002 , pp. 320 - 327
Copyright
Copyright © Cambridge University Press 2002

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

1.Pyeritz, RE, McKusick, VA.The Marfan syndrome: diagnosis and management. N Engl J Med 1979; 300: 772–777.CrossRefGoogle ScholarPubMed
2.Gray, J, Bridges, A, Faed, M et al. , Ascertainment and severity of Marfan syndrome in a Scottish population. J Med Genet 1994; 31: 51–54.CrossRefGoogle Scholar
3.Pyeritz, RE.Marfan syndrome and other disorders of fibrillin. Principles and Practice of Medical Genetics 1997; 1027–1066.Google Scholar
4.McKusick, VA.The cardiovascular aspects of Marfan's syndrome: A heritable disorder of connective tissue. Circulation 1955; 11: 321–342.CrossRefGoogle ScholarPubMed
5.Marfan, AB.Un cas de formation congenitale des quatre: membres plus prononce aux extremites characterisee par l'allongement des os avec un certain degré d'amincissement. Bull Mem Soc Med Hop Paris 1896; 3: 220–226.Google Scholar
6.Boerger, F.Ueber zwei Falle von Arachnodaktylie. Z Kinderheilk 1914; 12: 161–184.CrossRefGoogle Scholar
7.Weve, H.Ueber Arachnodaktylie. (Dystrophia mesodermalis congenita, typus Marfan.) Arch Augenheilk 1931; 104: 1–46.Google Scholar
8.Etter, LE, Glover, LP.Arachnodactyly complicated by dislocated lens and death from rupture of dissecting aneurysm of the aorta. JAMA 1943; 123: 88–89.CrossRefGoogle Scholar
9.Baer, RW, Taussig, HB, Oppenheimer, EH.Congenital aneurysmal dilation of the aorta associated with arachnodactyly. Bull Johns Hopkins Hosp 1943; 72: 309–331.Google Scholar
10.Brown, OR, De Mots, H, Kloster, FE, Roberts, A, Menashe, VD, Beals, RK.Aortic root dilatation and mitral valve prolapse in Marfan's syndrome: an echocardiographic study. Circulation 1975; 52: 651–657.CrossRefGoogle ScholarPubMed
11.Pyeritz, RE, Fishman, EK, Bernhardt, BA, Siegelman, SS.Dural ectasia is a common feature of the Marfan syndrome. Am J Hum Genet 1988; 43: 726–732.Google ScholarPubMed
12.Bentall, H, De Bono, A.A technique for complete replacement of the ascending aorta. Thorax 1968; 23: 338–339.CrossRefGoogle ScholarPubMed
13.Shores, J, Berger, KR, Murphy, EA, Pyeritz, RE.Progression of aortic dilation and the benefit of long-term beta-adrenergic blockade in Marfan's syndrome. N Engl J Med 1994; 330: 1335–1341.CrossRefGoogle ScholarPubMed
14.Dietz, HC, Cutting, GR, Pyeritz, RE et al. , Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991; 352: 337–339.CrossRefGoogle ScholarPubMed
15.Beighton, P, De Paepe, A, Danks, D et al. , International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986. Am J Med Genet 1988; 29: 581–594.CrossRefGoogle ScholarPubMed
16.De Paepe, A, Devereux, RB, Dietz, HC, Hennekam, RC, Pyeritz, RE.Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996; 62: 417–426.3.0.CO;2-R>CrossRefGoogle ScholarPubMed
17.Sakai, LY, Keene, DR, Engvall, E.Fibrillin, a new 350-kD glyco-protein, is a component of extracellular microfibrils. J Cell Biol 1986; 103: 2499–2509.CrossRefGoogle Scholar
18.Ramirez, F, Pereira, L.The fibrillins. Int J Biochem Cell Biol 1999; 31: 255–259.CrossRefGoogle ScholarPubMed
19.Robinson, PN, Godfrey, M.The molecular genetics of Marfan syndrome and related microfibrillopathies. J Med Genet 2000; 37: 9–25.CrossRefGoogle ScholarPubMed
20.Maron, BJ, Moller, JH, Seidman, CE et al. , Impact of laboratory molecular diagnosis on contemporary diagnostic criteria for genetically transmitted cardiovascular diseases: hypertrophic cardiomyopathy, long-QT syndrome, and Marfan syndrome. Circulation 1998; 98: 1460–1471.CrossRefGoogle ScholarPubMed
21.Hayward, C, Porteous, ME, Brock, DJ.Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations. Hum Mutat 1997; 10: 280–289.3.0.CO;2-L>CrossRefGoogle ScholarPubMed
22.Pereira, L, Levran, O, Ramirez, F et al. , A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome. N Engl J Med 1994; 331: 148–153.CrossRefGoogle Scholar
23.Milewicz, DM, Michael, K, Fisher, N, Coselli, JS, Markello, T, Biddinger, A.Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms. Circulation 1996; 94: 2708–2711.CrossRefGoogle ScholarPubMed
24.Dietz, HC, Pyeritz, RE.Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet 1995; 4: 1799–1809.CrossRefGoogle ScholarPubMed
25.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.CrossRefGoogle ScholarPubMed
26.Toudjarska, I, Kilpatrick, MW, Lembessis, P et al. , Novel approach to the molecular diagnosis of Marfan syndrome: application to sporadic cases and in prenatal diagnosis. Am J Med Genet 2001; 99: 294–302.CrossRefGoogle Scholar
27.Bunton, TE, Biery, NJ, Myers, L, Gayraud, B, Ramirez, F, Dietz, HC.Phenotypic alteration of vascular smooth muscle cells precedes elastolysis in a mouse model of Marfan syndrome. Circ Res 2001; 88: 37–43.CrossRefGoogle Scholar
28.Marque, V, Kieffer, P, Gayraud, B, Lartaud-Idjouadiene, I, Ramirez, F, Atkinson, J.Aortic Wall Mechanics and Composition in a Transgenic Mouse Model of Marfan Syndrome. Arterioscler Thromb Vase Biol 2001; 21: 1184–1189.CrossRefGoogle Scholar
29.Niwa, K, Perloff, JK, Bhuta, SM, Laks, H, Drinkwater, DC, Child, JS, Miner, PD.Structural abnormalities of great arterial walls in congenital heart disease: light and electron microscopic analyses. Circulation 2001; 103: 393–400.CrossRefGoogle ScholarPubMed
30.Nollen, GJ, Timmermans, J, Groenink, M, Barentsz, JO, van der Wall, EE, Mulder, BJ.Pulmonary artery root dilation in Marfan syndrome: quantative assessment of an unknown criterion. Heart 2002; 87: 470–471.CrossRefGoogle Scholar
31.Jeremy, R, Huang, H, Hwa, J, McCarron, H, Hughes, CF, Richards, JG.Relation between age, arterial distensibility, and aortic dilation in the Marfan syndrome. Am J Cardiol 1994; 74: 369–373.CrossRefGoogle ScholarPubMed
32.Hirata, K, Triposkiadis, F, Sparks, E, Bowen, J, Wooley, CF, Boudoulas, H.The Marfan syndrome: abnormal aortic elastic properties. J Am Coll Cardiol 1991; 18: 57–63.CrossRefGoogle ScholarPubMed
33.Groenink, M, de Roos, A, Mulder, BJ, Zwinderman, AH, Spaan, JA, van der Wall, EE.Biophysical properties of the normal-sized aorta in patients with marfan syndrome: evaluation with mr flow mapping. Radiology 2001; 219: 535–540.CrossRefGoogle ScholarPubMed
34.Campa, JS, Greenhalgh, RM, Powell, JT.Elastin degradation in abdominal aortic aneurysms. Atherosclerosis 1987; 65: 13–21.CrossRefGoogle ScholarPubMed
35.Pyeritz, RE.Marfan syndrome: current and future clinical and genetic management of cardiovascular manifestations. Semin Thorac Cardiovasc Surg 1993; 5: 11–16.Google ScholarPubMed
36.Come, PC, Fortuin, NJ, White, RI, McKusick, VA.Echocardio-graphic assessment of cardiovascular abnormalities in the Marfan syndrome. Comparison with clinical findings and with roentgeno-graphic estimation of aortic root size. Am J Med 1983; 74: 465–474.CrossRefGoogle Scholar
37.Bruno, L, Tredici, S, Mangiavacchi, M, Colombo, V, Mazzotta, GF, Sirtori, CR.Cardiac, skeletal, and ocular abnormalities in patients with Marfan's syndrome and in their relatives. Comparison with the cardiac abnormalities in patients with kyphoscoliosis. Br Heart J 1984; 51:220–230.CrossRefGoogle ScholarPubMed
38.Roman, MJ, Rosen, SE, Kramer-Fox, R, Devereux, RB, Devereux, RB.Prognostic significance of the pattern of aortic root dilation in the Marfan syndrome. J Am Coll Cardiol 1993; 22: 1470–1476.CrossRefGoogle ScholarPubMed
39.Groenink, M, Rozendaal, L, Hennekam, RC, Hart, AA, van der Wall, EE, Mulder, BJ.Marfan syndrome in children and adolescents: predictive and prognostic value of aortic root growth for screening for aortic complications. Heart 1998; 80: 163–169.CrossRefGoogle ScholarPubMed
40.Rossi-Foulkes, R, Roman, MJ, Rosen, SE et al. , Phenotypic features and impact of beta blocker or calcium antagonist therapy on aortic lumen size in the Marfan syndrome. Am J Cardiol 1999; 83: 1364–1368.CrossRefGoogle ScholarPubMed
41.Meijboom, LJ, Groenink, M, van der Wall, EE, Romkes, H, Stoker, J, Mulder, BJ.Aortic root asymmetry in marfan patients; evaluation by magnetic resonance imaging and comparison with standard echocardiography. Int J Card Imaging 2000; 16: 161–168.CrossRefGoogle ScholarPubMed
42.Roman, M, Devereux, R, Kramer-Fox, R, O'Loughlin, J.Two-dimensional echocardiographic aortic root dimensions in normal children and adults. Am J Cardiol 1989; 64: 507–512.CrossRefGoogle ScholarPubMed
43.Rozendaal, L, Groenink, M, Hennekam, RC, Hart, AA, van der Wall, EE, Mulder, BJ.Marfan syndrome in children and adolescents: an adjusted nomogram for screening aortic root dilation. Heart 1998; 79: 69–72.CrossRefGoogle Scholar
44.Roberts, WC, Honig, HS.The spectrum of cardiovascular disease in the Marfan syndrome: a clinico-morphologic study of 18 necropsy patients and comparison to 151 previously reported necropsy patients. Am Heart J 1982; 104: 115–135.CrossRefGoogle ScholarPubMed
45.Sutsch, G, Jenni, R, von Segesser, L, Turina, M.Predictability of aortic dissection as a function of aortic diameter. Eur Heart J 1991; 12: 1247–1256.CrossRefGoogle ScholarPubMed
46.Groenink, M, Lohuis, TA, Naeff, MS, Hennekam, RC, van der Wall, EE, Mulder, BJ.Survival and complication free survival in Marfan's syndrome: implications of current guidelines. Heart 1999; 82: 499–504.CrossRefGoogle ScholarPubMed
47.Gott, VL, Pyeritz, RE, Cameron, DE, Greene, PS, McKusick, VA.Composite graft repair of Marfan aneurysm of the ascending aorta: results in 100 patients. Ann Thorac Surg 1991; 52: 38–44.CrossRefGoogle ScholarPubMed
48.Legget, ME, Unger, TA, O'Sullivan, CK et al. , Aortic root complications in Marfan's syndrome: identification of a lower risk group. Heart 1996; 75: 389–395.CrossRefGoogle ScholarPubMed
49.Silverman, DI, Gray, J, Roman, MJ et al. , Family history of severe cardiovascular disease in Marfan syndrome is associated with increased aortic diameter and decreased survival. J Am Coll Cardiol 1995; 26: 1062–1067.CrossRefGoogle ScholarPubMed
50.Coady, MA, Rizzo, JA, Hammond, GL et al. , What is the appropriate size criterion for resection of thoracic aortic aneurysms? J Thorac Cardiovasc Surg 1997; 113: 476–491.CrossRefGoogle ScholarPubMed
51.Nienaber, CA, Fattori, R, Lund, G et al. , Nonsurgical reconstruction of thoracic aortic dissection by stent-graft placement. N Engl J Med 1999; 340: 1539–1545.CrossRefGoogle ScholarPubMed
52.Finkbohner, R, Johnston, D, Crawford, ES, Coselli, J, Milewicz, DM.Marfan syndrome. Long-term survival and complications after aortic aneurysm repair. Circulation 1995; 91: 728–733.Google ScholarPubMed
53.Birks, EJ, Webb, C, Child, A, Radley-Smith, R, Yacoub, MH.Early and long-term results of a valve-sparing operation for Marfan syndrome. Circulation 1999; 100: 29–35.CrossRefGoogle ScholarPubMed
54.Pyeritz, RE, Wappel, MA.Mitral valve dysfunction in the Marfan syndrome. Clinical and echocardiographic study of prevalence and natural history. Am J Med 1983; 74: 797–807.CrossRefGoogle ScholarPubMed
55.Treasure, T.Cardiovascular surgery for Marfan syndrome. Heart 2000; 84: 674–678.CrossRefGoogle ScholarPubMed
56.Karnebeek van, CD, Naeff, MS, Mulder, BJ, Hennekam, RC, Offringa, M.Natural history of cardiovascular manifestations in Marfan syndrome. Arch Dis Child 2001; 84: 129–137.CrossRefGoogle Scholar
57.Devereux, RB, Kramer-Fox, R, Shear, MK, Kligfield, P, Pini, R, Savage, DD.Diagnosis and classification of severity of mitral valve prolapse: methodologic, biologic, and prognostic considerations. Am Heart J 1987; 113: 1265–1280.CrossRefGoogle ScholarPubMed
58.Pyeritz, RE.Maternal and fetal complications of pregnancy in the Marfan syndrome. Am J Med 1981; 71: 784–790.CrossRefGoogle ScholarPubMed
59.Rossiter, JP, Repke, JT, Morales, AJ, Murphy, EA, Pyeritz, RE.A prospective longitudinal evaluation of pregnancy in the Marfan syndrome. Am J Obstet Gynecol 1995; 173: 1599–1606.CrossRefGoogle ScholarPubMed
60.Lipscomb, KJ, Smith, JC, Clarke, B, Donnai, P, Harris, R.Outcome of pregnancy in women with Marfan's syndrome. Br J Obstet Gynaecol 1997; 104: 201–206.CrossRefGoogle ScholarPubMed
61.Therrien, J, Warnes, C, Daliento, L et al. , Canadian Cardiovascular Society Consensus Conference 2001 update: recommendations for the management of adults with congenital heart disease part III. Can J Cardiol 2001; 17: 1135–1158.Google Scholar
62.Booms, P, Cisler, J, Mathews, KR et al. , Novel exon skipping mutation in the fibrillin-1 gene: two ‘hot spots’ for the neonatal Marfan syndrome. Clin Genet 1999; 55: 110–117.CrossRefGoogle ScholarPubMed
63.Halpern, B, Char, F, Murdoch, J, Horton, WB, McKusick, VA.A prospectus on the prevention of aortic rupture in the Marfan syndrome with data on survivorship without treatment. Johns Hopkins Med J 1971; 129: 123–129.Google ScholarPubMed
64.Salim, MA, Alpert, BS, Ward, JC, Pyeritz, RE.Effect of beta-adrenergic blockade on aortic root rate of dilation in the Marfan syndrome. Am J Cardiol 1994; 74: 629–633.CrossRefGoogle ScholarPubMed
65.Silverman, DI, Burton, KJ, Gray, J et al. , Life expectancy in the Marfan syndrome. Am J Cardiol 1995; 75: 157–160.CrossRefGoogle ScholarPubMed
66.Groenink, M, de Roos, A, Mulder, BJ, Spaan, JA, van der Wall, EE.Changes in aortic distensibility and pulse wave velocity assessed with magnetic resonance imaging following beta-blocker therapy in the Marfan syndrome. Am J Cardiol 1998; 82: 203–208.CrossRefGoogle ScholarPubMed
67.Haouzi, A, Berglund, H, Pelikan, PC, Maurer, G, Siegel, RJ.Hetero-geneous aortic response to acute beta-adrenergic blockade in Marfan syndrome. Am Heart J 1997; 133: 60–63.CrossRefGoogle Scholar
68.Braverman, AC.Exercise and the Marfan syndrome. Med Sci Sports Exerc 1998; 30: 387–395.CrossRefGoogle ScholarPubMed
69.David, TE, Feindel, CM.An aortic valve-sparing operation for patients with aortic incompetence and aneurysm of the ascending aorta. J Thorac Cardiovasc Surg 1992; 103: 617–621.CrossRefGoogle ScholarPubMed
70.Yacoub, MH, Gehle, P, Chandrasekaran, V, Birks, EJ, Child, A, Radley-Smith, R.Late results of a valve-preserving operation in patients with aneurysms of the ascending aorta and root. J Thorac Cardiovasc Surg 1998; 115: 1080–1090.CrossRefGoogle ScholarPubMed
71.Gott, VL, Greene, PS, Alejo, DE, Cameron, DE et al. , Replacement of the aortic root in patients with Marfan's syndrome. N Engl J Med 1999; 340: 1307–1313.CrossRefGoogle ScholarPubMed
72.David, TE, Feindel, CM, Bos, J.Repair of the aortic valve in patients with aortic insufficiency and aortic root aneurysm. J Thorac Cardiovasc Surg 1995; 109: 345–351.CrossRefGoogle ScholarPubMed
73.Fleischer, K, Nousari, H, Anhalt, G, Stone, CD, Laschinger, JC.Immunohistochemical abnormalities of fibrillin in cardiovas cular tissues in Marfan's syndrome. Ann Thorac Surg 1997; 63: 1012–1017.CrossRefGoogle Scholar
74.Yacoub, MH, Kilner, PJ, Birks, EJ, Misfeld, M.The aortic outflow and root: a tale of dynamism and crosstalk. Ann Thorac Surg 1999; 68: 37–43.CrossRefGoogle Scholar
75.Tambeur, L, David, TE, Unger, M, Armstrong, S, Ivanov, J, Webb, G.Results of surgery for aortic root aneurysm in patients with the Marfan syndrome. Eur J Cardiothorac Surg 2000; 17: 415–419.CrossRefGoogle ScholarPubMed
76.Kawamoto, S, Bluemke, DA, Traill, TA, Zerhouni, EA.Thoraco-abdominal aorta in Marfan syndrome: MR imaging findings of progression of vasculopathy after surgical repair. Radiology 1997; 203: 727–732.CrossRefGoogle Scholar
77.Detter, C, Mair, H, Klein, HG, Georgescu, C, Welz, A, Reichart, B.Long-term prognosis of surgically-treated aortic aneurysms and dissections in patients with and without Marfan syndrome. Eur J Cardiothorac Surg 1998; 13: 416–423.CrossRefGoogle ScholarPubMed
78.Meijboom, LJ, Nollen, GJ, Merchant, N, Webb, GD, David, TE, Mulder, BJ. Frequency of coronary ostial aneurysms after aortic root surgery in patients with the Marfan syndrome. Am J Cardiol 2002; In press.CrossRefGoogle Scholar
79.Murdoch, JL, Walker, BA, Halpern, BL, Kuzma, JW, McKusick, VA.Life expectancy and causes of death in the Marfan syndrome. N Engl J Med 1972; 286: 804–808.CrossRefGoogle ScholarPubMed