Marfan's syndrome: An overview;A síndrome de Marfan: Uma revisão geral

Sao Paulo Medical Journal

Volumn 128, Issue 6, 2010, Pages 360-366

  Yuan, Shi Min ^a   Jing, Hua ^a  

^a NANJING UNIVERSITY   (China)

Author keywords

Aortic aneurysm; Arachnodactyly; Connective tissue diseases; Marfan syndrome; Mitral valve prolapse

Indexed keywords

ANGIOTENSIN 2 RECEPTOR ANTAGONIST; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; DNA; FIBRILLIN 1; PERINDOPRIL; TRANSFORMING GROWTH FACTOR BETA;

AORTA ANEURYSM; AORTA DISEASE; AORTA ROOT; AORTA SURGERY; AORTA VALVE REPLACEMENT; AUTOSOMAL DOMINANT DISORDER; BONE RADIOGRAPHY; CARDIOVASCULAR MALFORMATION; CLINICAL FEATURE; COLOR ULTRASOUND FLOWMETRY; CONNECTIVE TISSUE DISEASE; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; DNA DETERMINATION; EHLERS DANLOS SYNDROME; FAMILY HISTORY; GENE MUTATION; HERITABILITY; HOMOCYSTINURIA; HUMAN; KLINEFELTER SYNDROME; LENS DISEASE; LOEYS DIETZ SYNDROME; MARFAN SYNDROME; MEDICAL ASSESSMENT; MITRAL VALVE PROLAPSE; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PREGNANCY; PREVALENCE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; REVIEW; SLIT LAMP; STICKLER SYNDROME; THORACIC AORTA ANEURYSM; TRANSESOPHAGEAL ECHOCARDIOGRAPHY; VELOCARDIOFACIAL SYNDROME;

EID: 79951683760     PISSN: 15163180     EISSN: None     Source Type: Journal    
DOI: 10.1590/s1516-31802010000600009     Document Type: Review

References (67)

1. Haneline M, Lewkovich GN. A narrative review of pathophysiological mechanisms associated with cervical artery dissection. J Can Chiropr Assoc. 2007;51(3):146-57.
2. Gelb BD. Marfan's syndrome and related disorders--more tightly connected than we thought. N Engl J Med. 2006;355(8):841-4.
3. Department of Cardiac Surgery, Veteran General Hospital. Marfan Syndrome (MFS). Available from: http://www.marfan.org.tw/index.php?job=art&articleid=a_20061102_0051 18. Accessed in 2010 (Apr 16).
4. Marfan syndrome. Available from: http://science.jrank.org/pages/4127/Marfan-Syndrome.html. Accessed in 2010 (Sep 29).
5. Van de Velde S, Fillman R, Yandow S. Protrusio acetabuli in Marfan syndrome. History, diagnosis, and treatment. J Bone Joint Surg Am. 2006;88(3):639-46.
6. 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(2):329-32.
7. Pahuja D. Marfan syndrome: diagnosis and workup of cardiac manifestations. The Internet Journal of Cardiology. 2006;3(1). Available from: http://www.ispub.com/journal/the_internet_journal_of_cardiology/volume_3_ number_1_9/article/marfan_syndrome_diagnosis_and_workup_of_cardiac_mani festations.html. Accessed in 2010 (Sep 29).
8. Geva T, Hegesh J, Frand M. The clinical course and echocardiographic features of Marfan's syndrome in childhood. Am J Dis Child. 1987;141(11):1179-82.
9. Morse RP, Rockenmacher S, Pyeritz RE, et al. Diagnosis and management of infantile marfan syndrome. Pediatrics. 1990;86(6):888-95.
10. 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(4):1062-7.
11. Groenink M, Lohuis TA, Tijssen JG, et al. Survival and complication free survival in Marfan's syndrome: implications of current guidelines. Heart. 1999;82(4):499-504.
12. Tsipouras P, Silverman DI. The genetic basis of aortic disease. Marfan syndrome and beyond. Cardiol Clin. 1999;17(4):683-96.
13. Brown OR, DeMots H, Kloster FE, et al. Aortic root dilatation and mitral valve prolapse in Marfan's syndrome: an ECHOCARDIOgraphic study. Circulation. 1975;52(4):651-7.
14. Sisk HE, Zahka KG, Pyeritz RE. The Marfan syndrome in early childhood: analysis of 15 patients diagnosed at less than 4 years of age. Am J Cardiol. 1983;52(3):353-8.
15. Papaioannou AC, Agustsson MH, Gasul BM. Early manifestations of the cardiovascular disorders in the Marfan syndrome. Pediatrics. 1961;27:255-68.
16. Iserin L, Jondeau G, Sidi D, Kachaner J. Maladie de Marfan. Manifestations cardiovasculaires et indications thérapeutiques [Marfan's syndrome. Cardiovascular manifestations and therapeutic indications]. Arch Mal Coeur Vaiss. 1997;90(12 Suppl):1701-5.
17. Kirali K, Yakut N, Güler M, et al. Surgical treatment of siblings with Marfan syndrome. Asian Cardiovascular & Thoracic Annals. 1999;7(2):138-41. Available from: http://asianannals.ctsnetjournals.org/cgi/reprint/7/2/138?maxtoshow= &hits=10&RESULTFORMAT=&fulltext=aortic&searchid=1&FIRSTI NDEX=180&resourcetype=HWFIG. Accessed in 2010(Sep 29).
18. Erentuǧ V, Polat A, Kirali K, Akinci E, Yakut C. Marfan sendromunda kardiyovasküler tutulum ve tedavi [Cardiovascular manifestations and treatment in Marfan syndrome]. Anadolu Kardiyol Derg. 2005;5(1):46-52.
19. Robinson PN, Godfrey M. The molecular genetics of Marfan syndrome and related microfibrillopathies. J Med Genet. 2000;37(1):9-25.
20. Cañadas V, Vilacosta I, Bruna I, Fuster V. Marfan syndrome. Part 1: pathophysiology and diagnosis. Nat Rev Cardiol. 2010;7(5):256-65.
21. Alghamdi AA, Van Arsdell GS. Replacement of aortic root and ascending aorta in adult congenital heart disease. Expert Rev Cardiovasc Ther. 2007;5(6):1087-94.
22. Ramirez F, Dietz HC. Marfan syndrome: from molecular pathogenesis to clinical treatment. Curr Opin Genet Dev. 2007;17(3):252-8.
23. Fibrillin Mutations. Do they really cause Marfan syndrome? Available from: http://www.ctds.info/fibrillin.html. Accessed in 2010 (Set 29).
24. Loeys B, Nuytinck L, Delvaux I, De Bie S, 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 Intern Med. 2001;161(20):2447-54.
25. Robinson PN, Booms P, Katzke S, et al. Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Hum Mutat. 2002;20(3):153-61.
26. Stanley P, Roebuck D, Barboza A. Takayusu's arteritis in children. Tech Vasc Interv Radiol. 2003;6(4):158-68.
27. Dean JC. Marfan syndrome: clinical diagnosis and management. Eur J Hum Genet. 2007;15(7):724-33.
28. Slavotinek J, Kendall SW, Flower CD, et al. Radiological evaluation of the ascending aorta following repair of type A dissection. Cardiovasc Intervent Radiol. 1993;16(5):293-6.
29. McLeod AA, Monaghan MJ, Richardson PJ, Jackson G, Jewitt DE. Diagnosis of acute aortic dissection by M-mode and cross-sectional echocardiography: a five-year experience. Eur Heart J. 1983;4(3):196-202.
30. Come PC, Fortuin NJ, White RI Jr, McKusick VA. Echocardiographic assessment of cardiovascular abnormalities in the Marfan syndrome. Comparison with clinical findings and with roentgenographic estimation of aortic root size. Am J Med. 1983;74(3):465-74.
31. Elkayam U, Ostrzega E, Shotan A, Mehra A. Cardiovascular problems in pregnant women with the Marfan syndrome. Ann Intern Med. 1995;123(2):117-22.
32. Kiotsekoglou A, Sutherland GR, Moggridge JC, et al. The unravelling of primary myocardial impairment in Marfan syndrome by modern echocardiography. Heart. 2009;95(19):1561-6.
33. Aldrich HR, Labarre RL, Roman MJ, et al. Color flow and conventional echocardiography of the Marfan syndrome. Echocardiography. 1992;9(6):627-36.
34. Glazer HS, Gutierrez FR, Levitt RG, Lee JK, Murphy WA. The thoracic aorta studied by MR imaging. Radiology. 1985;157(1):149-55.
35. Soulen RL, Fishman EK, Pyeritz RE, Zerhouni EA, Pessar ML. Marfan syndrome: evaluation with MR imaging versus CT. Radiology. 1987;165(3):697-701.
36. Meijboom LJ, Groenink M, van der Wall EE, et al. Aortic root asymmetry in marfan patients; evaluation by magnetic resonance imaging and comparison with standard echocardiography. Int J Card Imaging. 2000;16(3):161-8.
37. Montagnani S, Passaretti U, Fusco M. Aspetti morfologici ed istoenzimatici dell'aponeurosi palmare da un paziente con sindrome di Marfan associata a contrattura di Dupuytren [Morphologic and hist-enzymatic aspects of palmar aponeurosis in a patient with Marfan syndrome associated with Dupuytren's contracture]. Arch Putti Chir Organi Mov. 1989;37(2):355-62.
38. Yang HH, van Breemen C, Chung AW. Vasomotor dysfunction in the thoracic aorta of Marfan syndrome is associated with accumulation of oxidative stress. Vascul Pharmacol. 2010;52(1-2):37-45.
39. Rantamäki T, Raghunath M, Karttunen L, et al. Prenatal diagnosis of Marfan syndrome: identification of a fibrillin-1 mutation in chorionic villus sample. Prenat Diagn. 1995;15(12):1176-81.
40. Godfrey M, Vandemark N, Wang M, et al. Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome. Am J Hum Genet. 1993;53(2):472-80.
41. Youil R, Toner TJ, Bull E, et al. Enzymatic mutation detection (EMD) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII. Hum Mutat. 2000;16(1):92-3.
42. Epocrates online. Marfan syndrome. Differential diagnosis. Available from: https://online.epocrates.com/u/2935514/Marfan+syndrome/Diagnosis/Differe ntial. Accessed in 2010 (Sep 29).
43. Shapiro JR, Wright MJ. The Marfan syndrome. Available from: http://cmbi.bjmu.edu.cn/uptodate/Valvular%20and%20aortic%20disease/Aorta /The%20Marfan%20syndrome.htm. Accessed in 2010 (Sep 29).
44. Judge DP, Dietz HC. Therapy of Marfan syndrome. Annu Rev Med. 2008;59:43-59.
45. MacSweeney ST, Powell JT, Greenhalgh RM. Pathogenesis of abdominal aortic aneurysm. Br J Surg. 1994;81(7):935-41.
46. Tunçbilek E, Alanay Y. Congenital contractural arachnodactyly (Beals syndrome). Orphanet J Rare Dis. 2006;1:20.
47. Yeowell HN, Pinnell SR. The Ehlers-Danlos syndromes. Semin Dermatol. 1993;12(3):229-40.
48. Mondofacto dictionary. Erdheim disease. Available from: http://www.mondofacto.com/facts/dictionary?Erdheim+disease. Accessed in 2010 (Sep 29).
49. Genetics home reference. Genetic conditions. Homocystinuria. Available from: http://ghr.nlm.nih.gov/condition=homocystinuria. Accessed in 2010 (Sep 29).
50. Juul A, Aksglaede L, Lund AM, et al. Preserved fertility in a non-mosaic Klinefelter patient with a mutation in the fibroblast growth factor receptor 3 gene: case report. Hum Reprod. 2007;22(7):1907-11.
51. Sakaguchi M, Kitahara H, Seto T, et al. Surgery for acute type A aortic dissection in pregnant patients with Marfan syndrome. Eur J Cardiothorac Surg. 2005;28(2):280-3; discussion 283-5.
52. Goland S, Barakat M, Khatri N, Elkayam U. Pregnancy in Marfan syndrome: maternal and fetal risk and recommendations for patient assessment and management. Cardiol Rev. 2009;17(6):253-62.
53. Keskin HL, Mungan T, Aktepe-Keskin E, Güngör T. Marfan syndrome in pregnancy: a case report. Ann Saudi Med. 2002;22(5-6):356-8.
54. 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(5):1599-606.
55. Ryan-Krause P. Identify and manage marfan syndrome in children. Nurse Pract. 2002;27(10):26, 31-6; quiz 37.
56. Pomini F, Mercogliano D, Cavalletti C, Caruso A, Pomini P. Cardiopulmonary bypass in pregnancy. Ann Thorac Surg. 1996;61(1):259-68.
57. Iams HD. Diagnosis and management of Marfan syndrome. Curr Sports Med Rep. 2010;9(2):93-8.
58. Dietz HC. Marfan syndrome. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle: University of Washington; 1993. Available from: http://www.ncbi.nlm.nih.gov/pubmed/20301510. Accessed in 2010 (Sep 29).
59. Tahernia AC. Cardiovascular anomalies in Marfan's syndrome: the role of echocardiography and beta-blockers. South Med J. 1993;86(3):305-10.
60. Shores J, Berger KR, Murphy EA, Pyeritz RE. Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan's syndrome. N Engl J Med. 1994;330(19):1335-41.
61. Brooke BS, Habashi JP, Judge DP, et al. Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. N Engl J Med. 2008;358(26):2787-95.
62. Ahimastos AA, Aggarwal A, D'Orsa KM, et al. Effect of perindopril on large artery stiffness and aortic root diameter in patients with Marfan syndrome: a randomized controlled trial. JAMA. 2007;298(13):1539-47.
63. Rammurthy DV, Iyer PU, Kumar A, Mohan M, Khandpur SC. Marfan's syndrome in a neonate. Indian Pediatr. 1986;23(11):956-9.
64. Karck M, Kallenbach K, Hagl C, et al. Aortic root surgery in Marfan syndrome: Comparison of aortic valve-sparing reimplantation versus composite grafting. J Thorac Cardiovasc Surg. 2004;127(2):391-8.
65. Gillinov AM, Zehr KJ, Redmond JM, et al. Cardiac operations in children with Marfan's syndrome: indications and results. Ann Thorac Surg. 1997;64(4):1140-4; discussion 1144-5.
66. Alexiou C, Langley SM, Charlesworth P, et al. Aortic root replacement in patients with Marfan's syndrome: the Southampton experience. Ann Thorac Surg. 2001;72(5):1502-7; discussion 1508.
67. de Oliveira NC, David TE, Ivanov J, et al. Results of surgery for aortic root aneurysm in patients with Marfan syndrome. J Thorac Cardiovasc Surg. 2003;125(4):789-96.