Clinical characteristics of a familial inherited myxomatous valvular dystrophy mapped to Xq28

Journal of the American College of Cardiology

Volumn 35, Issue 7, 2000, Pages 1890-1897

  Trochu, Jean Noël ^a   Kyndt, Florence ^b   Schott, Jean Jacques ^b   Gueffet, Jean Pierre ^a   Probst, Vincent ^a   Bénichou, Bernard ^b,c   Le Marec, Hervé ^a,b  

^a CHU de Nantes   (France)

^b INSERM   (France)

^c NANTES UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8;

ADOLESCENT; ADULT; AORTA VALVE DISEASE; AORTA VALVE REGURGITATION; ARTICLE; BLOOD ANALYSIS; CHILD; CHROMOSOME XQ; CLINICAL FEATURE; CONTROLLED STUDY; DYSTROPHY; FAMILIAL DISEASE; FEMALE; GENE LOCATION; GENE MAPPING; GENE MUTATION; HAPLOTYPE; HEART MURMUR; HEART MYXOMA; HEART VALVE SURGERY; HEMIZYGOSITY; HEMOPHILIA A; HUMAN; MAJOR CLINICAL STUDY; MALE; MITRAL VALVE DISEASE; MITRAL VALVE PROLAPSE; MITRAL VALVE REGURGITATION; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; TRANSTHORACIC ECHOCARDIOGRAPHY; VALVULAR HEART DISEASE; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; CHROMOSOME MAPPING; FEMALE; HEART NEOPLASMS; HEART VALVES; HETEROZYGOTE; HUMANS; LINKAGE (GENETICS); MALE; MYXOMA; X CHROMOSOME;

EID: 0034036313     PISSN: 07351097     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0735-1097(00)00617-3     Document Type: Article

References (28)

1. Dietz H.C., Cutting G.R., Pyeritz R.E., et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 352:1991;337-339.
2. Superti-Furga A., Gugler E., Gitzelmann R., Steinmann B. Ehlers-Danlos syndrome type IV a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen . J Biol Chem. 263:1988;6226-6232.
3. Savage D., Garrison R.J., Devereux R.B., et al. Mitral valve prolapse in the general population. I. Epidemiologic features the Framingham study . Am Heart J. 106:1983;571-576.
4. Wooley C.F., Baker P.B., Kolibash A.J., Kilman J.W., Sparks E.A., Boudoulas H. The floppy, myxomatous mitral valve, mitral valve prolapse, and mitral regurgitation. Prog Cardiovasc Dis. 33:1991;397-433.
5. Morales A.R., Romanelli R., Boucek R.J., Tate L.G., Alvarez R.T., Davis J.T. Myxomatous heart disease an assessment of extravalvular cardiac pathology in severe mitral valve prolapse . Hum Pathol. 23:1992;129-137.
6. Devereux R.B., Brown T.W., Kramer-Fox R., Sachs I. Inheritance of mitral valve prolapse effects of age and sex on gene expression . Ann Intern Med. 97:1982;826-832.
7. Pini R., Greppi B., Kramer-Fox R., Roman M.J., Deveruex R.B. Mitral valve dimensions and motion and familial transmission of mitral valve prolapse with and without leaflet billowing. J Am Coll Cardiol. 12:1988;1423-1431.
8. Levy D., Savage D. Prevalence and clinical features of mitral valve prolapse. Am Heart J. 113:1987;1281-1290.
9. Devereux R.B., Hawkins I., Kramer-Fox R., et al. Complications of mitral valve prolapse. Disproportionate occurrence in men and older patients. Am J Med. 81:1986;751-758.
10. Monteleone O.L., Fagan L.F. Possible X-linked congenital heart disease. Circulation. 39:1969;611-614.
11. Wordsworth P., Ogilvie D., Akhras F., Jackson G., Sykes B. Genetic segregation analysis of familial mitral prolapse shows no linkage of fibrillar collagen genes. Br Heart J. 61:1989;300-306.
12. Henney A.M., Tsipouras P., Schwartz R.C., Child A.H., Devereux R.B., Leech G.J. Genetic evidence that mutations in the COL1A1, COL1A2, COL3A1 or COL5A2 collagen genes are not responsible for mitral valve prolapse. Br Heart J. 61:1989;292-299.
13. Kyndt F., Schott J., Trochu J.N., et al. Mapping of X-linked Myxomatous valvular dystrophy to chromosome Xq28. Am J Hum Genet. 62:1988;627-632.
14. Henry W.L., DeMaria A., Gramiak R., et al. Report of the American Society of Echocardiography committee on nomenclature and standards in two-dimensional echocardiography. Circulation. 62:1980;212-217.
15. Weissman N.J., Pini R., Roman M.J., et al. In vivo mitral valve morphology and motion in mitral valve prolapse. Am J Cardiol. 73:1994;1080-1088.
16. Devereux R.B., Kramer-Fox R., Shear M.K., Kligfield P., Pini R., Savage D.D. Diagnosis and classification of severity of mitral valve prolapse methodologic, biologic and prognostic considerations . Am Heart J. 113:1987;1265-1280.
17. Miyatake K., Izumi S., Okamoto M., et al. Semiquantitative grading of severity of mitral regurgitation by real-time two dimensional Doppler flow image technique. J Am Coll Cardiol. 7:1986;82-88.
18. Yoshida K., Yoshikawa J., Shakudo M., et al. Color Doppler evaluation of valvular regurgitation in normal subjects. Circulation. 78:1988;840-847.
19. Helmcke F., Nanda N.C., Hsiung M.C., et al. Color Doppler assessment of mitral regurgitation with orthogonal planes. Circulation. 7:1987;175-183.
20. Dolan M.S., Castello R., St Vrain J.A., Aguirre F., Labovitz A.J. Quantitation of aortic regurgitation by Doppler echocardiography a practical approach . Am Heart J. 129:1995;1014-1020.
21. Malkowski M.J., Boudoulas H., Wooley C.F., Guo R., Pearson A.C., Gray P.G. Spectrum of structural abnormalities in floppy mitral valve echocardiographic evaluation. Am Heart J. 132:(1 Pt 1):1996;145-151.
22. Allen W.M., Matloff J.M., Fishbein M.C. Myxomatous degeneration of the aortic valve and isolated severe aortic regurgitation. Am J Cardiol. 55:1985;439-444.
23. Tonnemacher D., Reid C., Kawanishi D., et al. Frequency of myxomatous degeneration of the aortic valve as a cause of isolated aortic regurgitation severe enough to warrant aortic valve replacement. Am J Cardiol. 60:1987;1194-1196.
24. Newbury-Ecob R.A., Zucollo J.M., Rutter N., Young I.D. Sex linked valvular dysplasia. J Med Genet. 30:1993;873-874.
25. Glesby M.J., Pyeritz R.E. Association of mitral valve prolapse and systemic abnormalities of connective tissue. A phenotypic continuum. JAMA. 262:1989;523-528.
26. Rogan K.M., Sears-Rogan P., Virmani R., Pyeritz R.E. Familial myxomatous valvular disease. Am J Cardiol. 63:1989;1149-1151.
27. Shell W.E., Walton J.A., Clifford M.E., Willis P.W. 3d. The familial occurrence of the syndrome of mid-late systolic click and late systolic murmur. Circulation. 39:1969;327-337.
28. Rizzon P., Biasco G., Brindicci G., Mauro F. Familial syndrome of midsystolic click and late systolic murmur. Br Heart J. 35:1973;245-259.