Marfan syndrome and mitral valve prolapse

Journal of Clinical Investigation

Volumn 114, Issue 11, 2004, Pages 1543-1546

  Weyman, Arthur E ^a   Scherrer Crosbie, Marielle ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN 1; TRANSFORMING GROWTH FACTOR BETA; ACTIN BINDING PROTEIN; FIBRILLIN;

ANIMAL MODEL; EXTRACELLULAR MATRIX; FIBER; GENETIC DISORDER; MARFAN SYNDROME; MITRAL VALVE; MITRAL VALVE PROLAPSE; MITRAL VALVE REGURGITATION; MOLECULAR MECHANICS; MUSCLE CELL; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; SYSTOLE; ANIMAL; GENETICS; HUMAN; METABOLISM; MOUSE; NOTE; PATHOLOGY; PATHOPHYSIOLOGY;

ANIMALS; HUMANS; MARFAN SYNDROME; MICE; MICROFILAMENT PROTEINS; MITRAL VALVE PROLAPSE; TRANSFORMING GROWTH FACTOR BETA;

EID: 15244351171     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI200423701     Document Type: Review

References (31)

1. Devereux, R.B., et al. 1987. Diagnosis and classification of severity of mitral valve prolapse: methodologic, biologic, and prognostic considerations. Am. Heart J. 113:1265-1280.
2. Chavez, A.M., and Cosgrove, D.M. 1988. Surgery for mitral prolapse. Herz. 13:400-404.
3. Shah, P.M., and Gramiak, R. 1970. Echocardiographic recognition of mitral valve prolapse [abstract]. Circulation. 42(Suppl. III):III-45.
4. Dillon, J.C., Haine, C.L., Chang, S., and Feigenbaum, H. 1971. Use of echocardiography in patients with prolapsed mitral valve. Circulation. 43:503-507.
5. Kerber, R.E., Isaeff, D.M., and Hancock, E.W. 1971. Echocardiographic patterns in patients with the syndrome of systolic click and late systolic murmur. N. Engl. J. Med. 284:691-693.
6. Levine, R.A., and Weyman, A.E. 1984. Mitral valve prolapse: a disease in search of, or created by, its definition. Echocardiography. 1:3-14.
7. Levine, R.A., Triulzi, M.O., Harrigan, P., and Weyman, A.E. 1987. The relationship of mitral annular shape to the diagnosis of mitral valve prolapse. Circulation. 75:756-767.
8. Levine, R.A., Stathogiannis, E., Newell, J.B., Harrigan, P., and Weyman, A.E. 1988. 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. 11:1010-1019.
9. Marks, A.R., Choong, C.Y., Sanfilippo, A.J., Ferre, M., and Weyman, A.E. 1989. Identification of high-risk and low-risk subgroups of patients with mitral-valve prolapse. N. Engl. J. Med. 320:1031-1036.
10. Freed, L.A., et al. 1999. Prevalence and clinical outcome of mitral-valve prolapse. N. Engl. J. Med. 341:1-7.
11. Levy, D., and Savage, D. 1987. Prevalence and clinical features of mitral valve prolapse. Am. Heart J. 113:1281-1290.
12. Hickey, A.J., and Wilcken, D.E. 1986. Age and the clinical profile of idiopathic mitral valve prolapse. Br. Heart J. 55:582-586.
13. Wilcken, D.E., and Hickey, A.J. 1988. Lifetime risk for patients with mitral valve prolapse of developing severe valve regurgitation requiring surgery. Circulation. 78:10-14.
14. Jeresaty, R.M. 1985. Mitral valve prolapse and ruptured chordae tendineae. Am. J. Cardiol. 55:138-142.
15. Dietz, H.C., et al. 1991. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 352:337-339.
16. Robinson, P.N., et al. 2002. Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Hum. Mut. 20:153-161.
17. Kyndt, F., et al. 1998. Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28. Am. J. Hum. Genet. 62:627-632.
18. Disse, S., et al. 1999. Mapping of a first locus for autosomal dominant myxomatous mitral-valve prolapse to chromosome 16p11.2-p12.1. Am. J. Hum. Genet. 65:1242-1251.
19. Freed, L.A., et al. 2003. A locus for autosomal dominant mitral valve prolapse on chromosome 11p15.4. Am. J. Hum. Genet. 72:1551-1559.
20. Mizuguchi, T., et al. 2004. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat. Genet. 36:855-860.
21. Kaartinen, V., and Warburton, D. 2003. Fibrillin controls TGFβ activation. Nat. Genet. 33:331-332.
22. Annes, J.P., Munger, J.S., and Rifkin, D.E. 2003. Making sense of latent TGFbeta activation. J. Cell. Sci. 116:217-224.
23. Blobe, G.C., Schiemann, W.P., and Lodish, H.F. 2000. Role of transforming growth factor beta in human disease. N. Engl. J. Med. 342:1350-1358.
24. Akhurst, R.J. 2004. TGF beta signaling in health and disease. Nat. Genet. 36:790-792.
25. Piek, E., Heldin, C.H., and Ten Dijke, P. 1999. Specificity, diversity, and regulation in TGF-beta superfamily signaling. FASEB J. 13:2105-2124.
26. Ng, C.M., et al. 2004. TGF-β-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. J. Clin. Invest. 114:1586-1592. doi:10.1172/JCI200422715.
27. Neptune, E.R., et al. 2003. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat. Genet. 33:407-411.
28. Davies, M.J., Moore, B.P., and Braimbridge, M.V. 1978. The floppy mitral valve. Study of incidence, pathology, and complications in surgical, necropsy, and forensic material. Br. Heart J. 40:468-481.
29. Yetman, A.T., Bornemeier, R.A., and McCrindle, B.W. 2003. Long-term outcome in patients with Marfan syndrome: is aortic dissection the only cause of sudden death? J. Am. Coll. Cardiol. 41:329-332.
30. Kartunnen, L., Raghunath, M., Lonnquvist, L., and Peltonen, L. 1994. A compound heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype. Am. J. Hum. Genet. 55:1083-1091.
31. Rabkin, E., et al. 2001. Activated interstitial myofibroblasts express catabolic enzymes and mediate matrix remodeling in myxomatous heart valves. Circulation. 104:2525-2532.