Medical management of marfan syndrome

Circulation

Volumn 117, Issue 21, 2008, Pages 2802-2813

  Keane, Martin G ^a   Pyeritz, Reed E ^a,b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b HOSPITAL OF THE UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Aorta; Genetics; Marfan syndrome; Mitral valve

Indexed keywords

ATENOLOL; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CALCIUM CHANNEL BLOCKING AGENT; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; ENALAPRIL; FIBRILLIN 1; LOSARTAN; PROPRANOLOL; TRANSFORMING GROWTH FACTOR BETA ANTIBODY; VERAPAMIL;

ANEURYSM; AORTA ANEURYSM; AORTA DISEASE; AORTA SURGERY; ARTERY DILATATION; ASCENDING AORTA; BETA ADRENERGIC RECEPTOR BLOCKING; CARDIOVASCULAR DISEASE; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DRUG DOSE TITRATION; GENE MUTATION; HEART ARRHYTHMIA; HEART TRANSPLANTATION; HEMODYNAMIC STRESS; HISTOPATHOLOGY; HUMAN; MARFAN SYNDROME; MITRAL VALVE DISEASE; MITRAL VALVE PROLAPSE; MITRAL VALVE REGURGITATION; MOLECULAR GENETICS; MORBIDITY; MORTALITY; NONHUMAN; PATHOPHYSIOLOGY; PHYSICAL ACTIVITY; POSTOPERATIVE CARE; PRIORITY JOURNAL; REVIEW; RISK FACTOR; UNSPECIFIED SIDE EFFECT;

AORTIC DISEASES; HUMANS; MARFAN SYNDROME; MITRAL VALVE INSUFFICIENCY;

EID: 44649182369     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/CIRCULATIONAHA.107.693523     Document Type: Review

References (87)

1. Chow K, Pyeritz RE, Litt HI. Abdominal visceral findings in patients with Marfan syndrome. Genet Med. 2007;9:208-212.
2. Judge DP, Dietz HC. Marfan's syndrome. Lancet. 2005;366:1965-1976.
3. Pyeritz RE. Marfan syndrome and related disorders. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR, eds. Emery and Rimoin's Principles and Practice of Medical Genetics. Vol 3. 5th ed. London, UK: Churchill Livingstone; 2007:3579-3624.
4. Faivre L, Collod-Beroud G, Loeys B, Child A, Binquet C, Gautier E, Callewaert BL, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Haliday D, Beroud C, Bonithon-Kopp C, Holman KJ, DeBacker JF, Coucke PJ, Francke U, DePaepe AM, Jondreau G, Boileau C. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet. 2007;81:454-466.
5. Gelb BD. Marfan's syndrome and related disorders: more tightly connected than we thought. N Engl J Med. 2007;355:841-844.
6. Johnson PT, Chen J, Loeys B, Dietz HC, Fishman EK. Loeys-Dietz syndrome: MDCT angiography findings. Am J Radiol. 2007;189:W29-W35.
7. Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, DeBacker JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, DePaepe AM, Dietz HC. Aneurysm syndromes caused by mutations in the TGF-β receptor. N Engl J Med. 2006;355:788-798.
8. Ades L; CSANZ Cardiovascular Genetics Working Group. Guidelines for the diagnosis and management of Marfan syndrome. Heart Lung Circ. 2007;16:28-30.
9. DePaepe AM, Devereux RB, Dietz HC, Hennekam RCM, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 1996;62:417-426.
10. Rybczynski M, Koschyk DH, Aydin MA, Robinson PN, Brinken T, Franzen O, Berger J, Hofmann T, Mienertz T, von Kodolitsch Y. Tissue Doppler imaging identifies myocardial dysfunction in adults with Marfan syndrome. Clin Cardiol. 2007;30:19-24.
11. 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.
12. Gott VL, Greene PS, Alejo DE, Cameron DE, Naftel DC, Miller C, Gillinov AM, Laschinger JC, Pyeritz RE. Replacement of the aortic root in patients with Marfan's syndrome. N Engl J Med. 1999;340:1307-1313.
13. Silverman DI, Gray J, Roman MJ, Bridges A, Burton K, Boxer M, Devereux RB, Tsipouras P. 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.
14. Albornoz G, Coady MA, Roberts M, Davies RR, Tranquilli M, Rizzo JA. Familial thoracic aortic aneurysms and dissections: incidence, modes of inheritance and phenotypic patterns. Ann Thorac Surg. 2006;82:1400-1406.
15. Dietz HC, Loeys BL, Carta L, Ramirez F. Recent progress towards a molecular understanding of Marfan syndrome. Am J Med Genet. 2005;139C:4-9.
16. Schlatmann TJM, Becker AE. Comparative histopathologic study of significance of medial changes. Am J Cardiol. 1977;29:21-26.
17. Pereira L, Lee SY, Gayraud B, Andrikopoulos K, Shapiro SD, Bunton T, Biery NJ, Dietz HC, Sakai LY, Ramirez F. Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1. Proc Natl Acad Sci U S A. 1999;96:3819-3823.
18. 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.
19. Booms P, Pregla R, Ney A, Barthel F, Reinhardt DP, Pletschacher A, Mundlos S, Robinson PN. RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: a potential factor in the pathogenesis of Marfan syndrome. Hum Genet. 2005;116:51-61.
20. Segura AM, Luna RE, Horiba K, Stetler-Stevenson WG, McAllister HA, Willerson JT, Ferrans VJ. Immunohistochemistry of matrix metalloproteinases and their inhibitors in the thoracic aortic aneurysms and aortic valves of patients with Marfan's syndrome. Circulation. 1998;98:II-331-II-337.
21. Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM, Stetten G, Meyers DA, Francomano CA. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 1991;352:337-339.
22. Ramirez F, Sakai LY, Dietz HC, Rifkin DB. Fibrillin microfibrils: multipurpose extracellular networks in organismal physiology. Physiol Genom. 2004;19:151-154.
23. Handford PA, Downing AK, Reinhardt DP, Sakai LY. Fibrillin: from domain structure to supramolecular assembly. Matrix Biol. 2000;19:457-470.
24. D'Arrigo C, Burl S, Withers AP, Black C, Boxer M. TGF-beta1 binding protein-like modules of fibrillin-1 and -2 mediate integrin-dependent cell adhesion. Connect Tiss Res. 1998;37:29-51.
25. Collod-Beroud G, LeBourdelles S, Ades L, Ala-Kokko L, Booms P, Boxer M, Kaitila I, Loeys BL, Matyas G, Nuytinck L, Peltonen L, Rantamaki T, Robinson PN, Steinmann B, Junien C, Beroud C, Boileau C. Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat. 2003;22:199-208.
26. Chung AWY, Yeung KA, Sandor GGS, Judge DP, Dietz HC, van-Breeman C. Loss of elastic fiber integrity and reduction of vascular smooth muscle contraction resulting from the upregulated activities of matrix matalloproteinase-2 and -9 in the thoracic aortic aneurysm in Marfan syndrome. Circ Res. 2007;101:512-522.
27. Ramirez F, Dietz HC. Fibrillin-rich microfibrils: structural determinants of morphogenetic and homeostatic events. J Cell Physiol. 2007;213:326-330.
28. Reinhardt DP, Ono RN, Sakai LY. Calcium stabilizes fibillin-1 against proteolytic degradation. J Biol Chem. 1997;272:1231-1236.
29. Bee KJ, Wilkes D, Devereux RB, Lerman BB, Dietz HC, Basson CT. Structural and functional genetic disorders of the great vessels and outflow tracts. Ann N Y Acad Sci. 2006;1085:256-269.
30. Chaudhry F, Cain SA, Morgan A, Dallas SL, Shuttleworth CA, Kielty CM. Fibrillin-1 regulates the bioavailability of TGF-B. J Cell Biol. 2007;176:355-367.
31. Isogai Z, Ono RN, Ushiro S, Keene DR, Chen Y, Mazzieri R, Charbonneau NL, Reinhardt DP, Rifkin DB, Sakai LY. Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein. J Biol Chem. 2003;278:2750-2757.
32. Neptune ER, Frischmeyer PA, Arking DE, Myers L, Bunton TE, Gayraud B, Ramirez F, Sakai LY, Dietz HC. Dysregulation of TGF-β activation contributes to pathogenesis in Marfan syndrome. Nat Genet. 2003;33:407-411.
33. Ng CM, Cheng A, Myers L, Martinez-Murillo F, Jie C, Bedja D, Gabrielson KL, Hausladen JMW, Mecham RP, Judge DP, Dietz HC. TGF-β-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. J Clin Invest. 2004;114:1586-1592.
34. Hirata K, Tripsokiadis F, Sparks E, Bowen J, Wooley CF, Boudoulas H. The Marfan syndrome: abnormal aortic properties. J Am Coll Cardiol. 1991;18:57-63.
35. Yin FCP, Brin KP, Ting C-T, Pyeritz RE. Arterial hemodynamic indexes in Marfan's syndrome. Circulation. 1989;79:854-862.
36. Dagum P, Green GR, Nistal FJ, Daughters GT, Timek TA, Foppiano LE, Bolger AF, Ingels NB, Miller DC. Deformational dynamics of the aortic root: modes and physiologic determinants. Circulation. 1999;100:54-62.
37. Davies PF. Multiple signalling pathways in flow-mediated endothelial mechanotransduction: PYK-ing the right location. Atheroscler Thromb Vasc Biol. 2002;22:1755-1777.
38. Roman MJ, Rosen SE, Kramer-Fox R, Devereux RB. Prognostic significance of the pattern of aortic root dilation in the Marfan syndrome. J Am Coll Cardiol. 1993;22:1470-1476.
39. Davies RR, Goldstein LJ, Coady MA, Tittle SL, Rizzo JA, Kopf GS, Elefteriades JA. Yearly rupture or dissection rates for thoracic aortic aneurysms: simple prediction based on size. Ann Thorac Surg. 2002;73:17-28.
40. Roman MJ, Devereux RB, Kramer-Fox R, O'Laughlin JE. Two-dimensional echocardiographic aortic root dimensions in normal children and adults. Am J Cardiol. 1989;64:507-512.
41. Davies RR, Gallo A, Coady MA, Tellides G, Botta DM, Burke B, Coe MP, Kopf GS, Elefteriades JA. Novel measurement of relative aortic size predicts rupture of thoracic aortic aneurysms. Ann Thorac Surg. 2006;81:169-177.
42. Glesby MJ, Pyeritz RE. Association of mitral valve prolapse and systemic abnormalities of connective tissue: a phenotypic continuum. JAMA. 1989;262:523-528.
43. Legget ME, Unger TA, O'Sullivan CK, Zwink TR, Bennett RL, Byers PH, Otto CM. Aortic root complications in Marfan's syndrome: identification of a lower risk group. Heart. 1996;75:389-395.
44. Reed CM, Richey PA, Pulliam DA, Somes GW, Alpert BS. Aortic dimensions in tall men and women. Am J Cardiol. 1993;71:6608-6610.
45. Yetman AT, Bornemeier RA, McCrindle BW. Long-term outcome in patients with Marfan syndrome: is aortic dissection the only cause of sudden death? J Am Coll Cardiol. 2003;41:329-332.
46. Halpern BL, Char F, Murdoch JL, 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.
47. Ose L, McKusick VA. Prophylactic use of propranolol in the Marfan syndrome to prevent aortic dissection. Birth Defects. 1977;13:163-169.
48. Simpson CF, Boucek RJ, Noble NL. Influence of d-, l-, and dl-propranolol and practolol on β-aminopropionitrile-induced aortic ruptures of turkeys. Toxicol Appl Pharmacol. 1976;38:169-175.
49. Shores J, Berger KR, Murphy EA, Pyeritz RE. Progression of aortic dilatation and the benefit of long-term β-adrenergic blockade in Marfan's syndrome. N Engl J Med. 1994;330:1335-1341.
50. Ladouceur M, Fermanian C, Lupoglazoff J-M, Edouard T, Dulac Y, Acar P, Magnier S, Jondreau G. Effect of beta-blockade on ascending aortic dilatation in children with the Marfan syndrome. Am J Cardiol. 2007;99:406-409.
51. Rossi-Foulkes R, Roman MJ, Rosen SE, Kramer-Fox R, Ehlers KH, O'Laughlin JE, Davis JG, Devereux RB. 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.
52. Tierney ES, Feingold B, Printz BF, Park SC, Graham D, Kleinman CS, Mahnke B, Timchak DM, Neches WH, Gersony WM. Beta-blocker therapy does not alter the rate of aortic root dilation in pediatric patients with Marfan syndrome. J Pediatr. 2007;150:77-82.
53. Groenink M, DeRoos A, Mulder BJM, Spaan JAE, VanDerWall 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.
54. Rios AS, Silber EN, Bavishi N, Varga P, Burton BK, Clark WA, Denes P. Effect of long-term β-blockade on aortic root compliance in patients with Marfan syndrome. Am Heart J. 1999;137:1057-1061.
55. Yetman AT, Bornemeier RA, McCrindle BW. Usefulness of enalapril versus propranolol or atenolol for prevention of aortic dilation in patients with the Marfan syndrome. Am J Cardiol. 2005;95:1125-1127.
56. Topouchian J, Brisac AM, Pannier B, Vicaut E, Safar M, Asmar R. Assessment of the acute arterial effects of converting enzyme inhibition in essential hypertension: a double-blind, comparative and crossover study. J Hum Hypertens. 1998;12:181-187.
57. Heldin CH, Miyazono K, TenDijke P. TGF-beta signalling from cell membrane to nucleus through SMAD proteins. Nature. 1997;390:465-471.
58. Habashi JP, Judge DP, Holm TM, Cohn RD, Loeys BL, Cooper TK, Myers L, Klein EC, Liu G, Calvi C, Podowski M, Neptune ER, Halushka MK, Bedja D, Gabrielson KL, Rifkin DB, Carta L, Ramirez F, Huso DL, Dietz HC. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science. 2006;312:117-121.
59. Brooke BS, Habashi JP, Judge DP, Patel N, Loeys B, Dietz HC III. Angiotensin II receptor blockade for aortic root dilatation in Marfan syndrome. N Engl J Med. In press.
60. Lacro RV, Dietz HC, Wruck LM, Bradley TJ, Colan SD, Devereux RB, Klein GL, Li JS, Minich LL, Paridon SM, Pearson GD, Printz BF, Pyeritz RE, Radojewski E, Roman MJ, Saul JP, Stylianou MP, Mahony L. Rationale and design of a randomized clinical trial of beta blocker therapy (atenolol) vs. angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome. Am Heart J. 2007;154:624-631.
61. Mahony L, Sleeper LA, Anderson PAW, Gersony WM, McCrindle BW, Minich LL, Newburger JW, Saul JP, Vetter VL, Pearson GD. The pediatric heart network: a primer for the conduct of multicenter studies in children with congenital and acquired heart disease. Pediatr Cardiol. 2006;27:191-198.
62. Ince H, Rehders TC, Petzsch M, Kische S, Nienaber CA. Stent-grafts in patients with Marfan syndrome. J Endovasc Ther. 2005;12:82-88.
63. Trimarchi S, Nienaber CA, Rampoldi V, Myrmel T, Suzuki T, Bossone E, Tolva V, Deeb MG, Upchurch GR, Cooper JV, Fang J, Isselbacher EM, Sundt TM, Eagle KA. Insights from the International Registry of Acute Aortic Dissection (IRAD). Circulation. 2006;114:I-357-I-364.
64. Gaxotte V, Thony F, Rousseau H, Lions C, Otal P, Willoteaux S, Rodiere M, Negaiwi Z, Joffre F, Beregi JP. Midterm results of aortic diameter outcomes after thoracic stent-graft implantation for aortic dissection: a multicenter study. J Endovasc Ther. 2006;13:127-138.
65. Milewicz DM, Dietz HC, Miller DC. Treatment of aortic disease in patients with Marfan syndrome. Circulation. 2005;111:e150-e157.
66. Maron BJ, Ackerman MJ, Nishimura RA, Pyeritz RE, Towbin JA, Udelson JE. Task force 4: HCM and other cardiomyopathies, mitral valve prolapse, myocarditis and Marfan syndrome. J Am Coll Cardiol. 2005;45:1340-1345.
67. Braverman AC. Exercise and the Marfan syndrome. Med Sci Sports Exerc. 1998;30:S387-S395.
68. Hatzaras I, Tranquilli M, Coady MA, Barrett PM, Bible J, Elefteriades JA. Weight lifting and aortic dissection: more evidence for a connection. Cardiology. 2007;107:103-106.
69. Maron BJ, Chaitman BR, Ackerman MJ, Luna ABd, Corrado D, Crosson JE, Deal BJ, Driscoll DJ III ME, Araujo CGS, Liang DH, Mitten MJ, Myerburg RJ, Pelliccia A, Thompson PD, Towbin JA, VanCamp SP. Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases. Circulation. 2004;109:2807-2816.
70. Lalchandani S, Wingfield M. Pregnancy in women with Marfan's syndrome. Eur J Obstet Gynecol. 2003;110:125-130.
71. Pyeritz RE. Maternal and fetal complications of pregnancy in the Marfan syndrome. Am J Med. 1981;71:784-790.
72. Rossiter JP, Morales AJ, Repke JT, Murphy EA, Pyeritz RE. A prospective longitudinal evaluation of pregnancy in the Marfan syndrome. Am J Obstet Gynecol. 1995;173:1599-1606.
73. Immer FF, Bansi AG, Immer-Bansi AS, McDougall J, Zehr KJ, Schaff HV, Carrel TP. Aortic dissection in pregnancy: analysis of risk factors and outcome. Ann Thorac Surg. 2003;76:309-314.
74. Meijboom LJ, Vos FE, Timmermans J, Boers GH, Zwinderman AH, Mulder BJM. Pregnancy and aortic root growth in the Marfan syndrome: a prospective study. Eur Heart J. 2005;26:914-920.
75. 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.
76. Weyman AE, Scherrer-Crosbie M. Marfan syndrome and mitral valve prolapse. J Clin Invest. 2004;114:1543-1546.
77. Bhudia SK, Troughton R, lam B-K, Rajeswaran J, Mills WR, Gillinov M, Griffin BP, Blackstone EH, Lytle BW, Svensson LG. Mitral valve surgery in the adult Marfan syndrome patient. Ann Thorac Surg. 2006;81:843-848.
78. Savolainen A, Kupari M, Toivonen L, Kaitila I, Viitasalo M. Abnormal ambulatory electrocardiographic findings in patients with the Marfan syndrome. J Intern Med. 1997;241:221-226.
79. Kornbluth M, Schnittger I, Eyngorina I, Gasner C, Liang DH. Clinical outcome in the Marfan syndrome with ascending aortic dilatation followed annually by echocardiography. Am J Cardiol. 1999;84:753-755.
80. Kouchoukos NT, Dougenis D. Surgery of the thoracic aorta. N Engl J Med. 1997;336:1876-1888.
81. Karck M, Kallenbach K, Hagl C, Rhein C, Leyh R, Haverich A. Aortic root surgery in Marfan syndrome: comparison of aortic valve-sparing reimplantation versus composite grafting. J Thorac Cardiovasc Surg. 2004;127:391-398.
82. Ates M. When should we replace the ascending aorta in Marfan syndrome? Eur J Cardiothorac Surg. 2007;31:331-333.
83. Zehr KJ, Orszulak TA, Mullany CJ, Matloobi A, Daly RC, Dearani JA, Sundt TM, Puga FJ, Danielson GK, Schaff HV. Surgery for aneurysms of the aortic root: a 30-year experience. Circulation. 2004;110:1364-1371.
84. Miller DC. Valve-sparing aortic root replacement in patients with the Marfan syndrome. J Thorac Cardiovasc Surg. 2003;125:773-778.
85. Settepani F, Szeto WY, Pacini D, DePaulis R, Chiariello L, Di Bartolomeo R, Gallotti R, Bavaria J. Reimplantation valve-sparing aortic root replacement in Marfan syndrome using the Valsalva conduit: an intercontinental multicenter study. Ann Thorac Surg. 2007;83:S769-S773.
86. Knosalla C, Yu-guo W, Hammerschmidt R, Pasic M, Schmitt-Knosalla I, Grauhan O, Dandel M, Lehmkuhl H, Hetzer R. Orthotopic heart transplantation in patients with Marfan syndrome. Ann Thorac Surg. 2007;83:1691-1696.
87. Engelfriet PM, Boersma E, Tijssen JGP, Bouma BJ, Mulder BJM. Beyond the root: dilatation of the distal aorta in Marfan's syndrome. Heart. 2006;92:1238-1243.