Mitral valve prolapse in marfan syndrome: An old topic revisited

Echocardiography

Volumn 26, Issue 4, 2009, Pages 357-364

  Taub, Cynthia C ^a,b   Stoler, Joan M ^a   Perez Sanz, Teresa ^a   Chu, John ^a   Isselbacher, Eric M ^a   Picard, Michael H ^a   Weyman, Arthur E ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

Echocardiography; Marfan syndrome; Mitral valve prolapse

Indexed keywords

ADULT; AORTA SINUS; AORTA VALVE REGURGITATION; ARTICLE; CLINICAL ASSESSMENT; CLINICAL FEATURE; CONTROLLED STUDY; DESCENDING AORTA; FEMALE; GENETIC ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; MALE; MARFAN SYNDROME; MEMBRANE LEAFLET; MITRAL VALVE PROLAPSE; PREVALENCE; PRIORITY JOURNAL; SINUS NODE; TRANSTHORACIC ECHOCARDIOGRAPHY;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; INFANT; MALE; MARFAN SYNDROME; MIDDLE AGED; MITRAL VALVE PROLAPSE; YOUNG ADULT;

EID: 63849302971     PISSN: 07422822     EISSN: 15408175     Source Type: Journal    
DOI: 10.1111/j.1540-8175.2008.00825.x     Document Type: Article

References (36)

1. Pyeritz RE, McKusick VA : The Marfan syndrome: Diagnosis and management. N Engl J Med 1979 300 : 772 777.
2. Roman MJ, Rosen SE, Kramer-Fox R, et al : Prognostic significance of the pattern of aortic root dilation in the Marfan syndrome. J Am Coll Cardiol 1993 22 : 1470 1476.
3. Silverman DI, Burton KJ, Gray J, et al : Life expectancy in the Marfan syndrome. Am J Cardiol 1995 75 : 157 160.
4. van Karnebeek CD, Naeff MS, Mulder BJ, et al : Natural history of cardiovascular manifestations in Marfan syndrome. Arch Dis Child 2001 84 : 129 137.
5. 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.
6. Booms P, Withers AP, Boxer M, et al : A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype. Hum Genet 1997 100 : 195 200.
7. 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 : 153 161.
8. 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.
9. Mizuguchi T, Collod-Beroud G, Akiyama T, et al : Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet 2004 36 : 855 860.
10. Ng CM, Cheng A, Myers LA, et al : TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. J Clin Invest 2004 114 : 1586 1592.
11. Figueiredo S, Martins E, Lima MR, et al : Cardiovascular manifestations in Marfan syndrome. Rev Port Cardiol 2001 20 : 1203 1218.
12. 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.
13. 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.
14. Come PC, Fortuin NJ, White RI, Jr., et al : 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 : 465 474.
15. Marsalese DL, Moodie DS, Vacante M, et al : Marfan's syndrome: Natural history and long-term follow-up of cardiovascular involvement. J Am Coll Cardiol 1989 14 : 422 428 discussion 429 431.
16. Porciani MC, Attanasio M, Lepri V, et al : Prevalence of cardiovascular manifestations in Marfan syndrome. Ital Heart J Suppl 2004 5 : 647 652.
17. Hirata K, Triposkiadis F, Sparks E, et al : The Marfan syndrome: Cardiovascular physical findings and diagnostic correlates. Am Heart J 1992 123 : 743 752.
18. Geva T, Hegesh J, Frand M : The clinical course and echocardiographic features of Marfan's syndrome in childhood. Am J Dis Child 1987 141 : 1179 1182.
19. Levine RA, Stathogiannis E, Newell JB, et al : Reconsideration of echocardiographic standards for mitral valve prolapse: Lack of association between leaflet displacement isolated to the apical four chamber view and independent echocardiographic evidence of abnormality. J Am Coll Cardiol 1988 11 : 1010 1019.
20. Levine RA, Triulzi MO, Harrigan P, Weyman AE : The relationship of mitral annular shape to the diagnosis of mitral valve prolapse. Circulation 1987 75 : 756 767.
21. De Paepe A, Devereux RB, Dietz HC, et al : Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996 62 : 417 426.
22. Korkko J, Kaitila I, Lonnqvist L, et al : Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. J Med Genet 2002 39 : 34 41.
23. 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 : 353 358.
24. Freed LA, Levy D, Levine RA, et al : Prevalence and clinical outcome of mitral-valve prolapse. N Engl J Med 1999 341 : 1 7.
25. Devereux RB, Kramer-Fox R, Shear MK, et al : Diagnosis and classification of severity of mitral valve prolapse: Methodologic, biologic, and prognostic considerations. Am Heart J 1987 113 : 1265 1280.
26. Levy D, Savage D : Prevalence and clinical features of mitral valve prolapse. Am Heart J 1987 113 : 1281 1290.
27. De Backer J, Loeys B, Devos D, Dietz H, De Sutter J, De Paepe A : A critical analysis of minor cardiovascular criteria in the diagnostic evaluation of patients with Marfan syndrome. Genet Med 2006 8 : 401 408.
28. Lopez VM, Perez AB, Moises VA, et al : Serial clinical and echocardiographic evaluations of children with Marfan syndrome. Arq Bras Cardiol 2005 85 : 314 318.
29. Nasuti JF, Zhang PJ, Feldman MD, et al : Fibrillin and other matrix proteins in mitral valve prolapse syndrome. Ann Thorac Surg 2004 77 : 532 536.
30. Morse RP, Rockenmacher S, Pyeritz RE, et al : Diagnosis and management of infantile marfan syndrome. Pediatrics 1990 86 : 888 895.
31. 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.
32. Yetman AT, Huang P, Bornemeier RA, et al : Comparison of outcome of the Marfan syndrome in patients diagnosed at age 6 years of age. Am J Cardiol 2003 91 : 102 3.
33. Palz M, Tiecke F, Booms P, et al : Clustering of mutations associated with mild Marfan-like phenotypes in the 3′ region of FBN1 suggests a potential genotype-phenotype correlation. Am J Med Genet 2000 91 : 212 221.
34. Milewicz DM, Grossfield J, Cao SN, et al : A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome. J Clin Invest 1995 95 : 2373 2378.
35. Nijbroek G, Sood S, McIntosh I, et al : Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. Am J Hum Genet 1995 57 : 8 21.
36. Müller S, Müller L, Laufer G, et al : Comparison of three-dimensional imaging to transesophageal echocardiography for preoperative evaluation in mitral valve prolapse. Am J Cardiol 2006 98 : 243 248.