Floppy mitral valve/mitral valve prolapse and genetics

Journal of Heart Valve Disease

Volumn 16, Issue 6, 2007, Pages 590-595

  Yosefy, Chaim ^a   Barak, Asaf Ben ^a  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ANGIOTENSIN 2 RECEPTOR; COLLAGEN TYPE 3; COLLAGEN TYPE 3 A1; FIBRILLIN 1; LOSARTAN; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2; UNCLASSIFIED DRUG; UROKINASE;

ARTICLE; CHROMOSOME 15Q; DISEASE ASSOCIATION; DNA POLYMORPHISM; EHLERS DANLOS SYNDROME; FRAGILE X SYNDROME; GENETIC ANALYSIS; HEREDITARY CONNECTIVE TISSUE DISEASE; HUMAN; KIDNEY POLYCYSTIC DISEASE; LOEYS DIETZ SYNDROME; MARFAN SYNDROME; MISSENSE MUTATION; MITRAL VALVE PROLAPSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; RENIN ANGIOTENSIN ALDOSTERONE SYSTEM; STICKLER SYNDROME;

CONNECTIVE TISSUE DISEASES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HEART DEFECTS, CONGENITAL; HUMANS; MITRAL VALVE PROLAPSE;

EID: 37149042730     PISSN: 09668519     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (42)

1. Boudoulas H, Wooley CF (ed.), Mitral Valve: Floppy Mitral Valve, Mitral Valve Prolapse, Mitral Valvular Regurgitation, 2nd edition. Futura Publishing Company, Armonk New York, 2000:725
2. Barlow JB, Pocock WA. The significance of aortic injection systolic murmurs. Am Heart J 1962;64:149-158
3. Barlow JB, Bosman CK. Aneurysmal protrusion of the posterior leaflet of the mitral valve. An auscultatory-electrocardiographic syndrome. Am Heart J 1966;71:166-178
4. Boudoulas H, Wooley CF. Mitral Valve, Floppy Mitral Valve, Mitral Valve Prolapse, Mitral Valvular Regurgitation, 2nd edn, revised. Futura Publishing Company, Armonk, New York, 2000.
5. Devereux RB, Hawkins I, Kramer-Fox R, et al. Complications of mitral valve prolapse. Disproportionate occurrence in men and older patients. Am J Med 1986;81:751-758
6. Perloff JK, Child JS. Clinical and epidemiologic issue in mitral valve prolapse: Overview and perspective. Am Heart J 1987;113:1324-1332
7. Wilson W, Taubert KA, Gewitz M, et al. Prevention of infective endocarditis: Guidelines from the American Heart Association. A guideline from the American Heart Association Rheumatic Fever, Endocarditis and Kawasaki Disease Committee, Council on Cardiovascular Disease in the Young, and the Council on Clinical Cardiology, Council on Cardiovascular Surgery and Anesthesia, and the Quality of Care and Outcomes Research Interdisciplinary Working Group. J Am Dent Assoc 2007;138:739-745, 747-760
8. Bonow RO, Carabello B, de Leon AC et al. ACC/AHA Guidelines for the management of patients with Valvular Heart Disease. Executive Summary. A report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Committee on Management of Patients With Valvular Heart Disease). J Heart Valve Dis 1998;7:672-707
9. Vohra J, Sathe S, Warren R. Tatoulis J, Hunt D. Malignant ventricular arrhythmias in patient with mitral valve prolapse and mild mitral regurgitation. Pacing Clin Electrophysiol. 1993;16:387-393
10. Corrado D, Basso C, Nava A Rossi L, Thiene G. Sudden death in young people with apparently isolated mitral valve prolapse. G Ital Cardiol 1997;28:600-602
11. Barletta GA, Gagliardi R, Benvenuti L, Fantini F. Cerebral ischemic attacks as a complication of aortic and mitral valve prolapse. Stroke 1985;16:219-223
12. Orencia AJ, Petty JW, Khandheria BK, et al. Risk of stroke with mitral valve prolapse in population-based cohort study Stroke 1995;26:7-13
13. Gilon D, Buonanno FS, Joffe MM, et al. Lack of evidence of an association between mitral-valve prolapse and stroke in young patients. N Engl J Med 1999;341:48-50
14. Blum A, Shapira Y, Yeganh S, Rabinkov M. Mitral valve prolapse and thromboembolic events. Isr Med Assoc J 2001;3:282-283
15. Abinader EG, Rokey R, Goldhammer E, Kuo LC, Said E. Prevalence of atrial septal aneurysm in patients with mitral valve prolapse. Am J Cardiol 1988;62:1139-1140
16. Devereux RB, Kramer-Fox R, Shear MK, Kligfield P, Pini R, Savage DD. Diagnosis and classification of severity of mitral valve prolapse: Methodologic, biologic and prognostic considerations. Am Heart J 1987;113:1265-1280
17. Levine RA, Stathogiannis E, Newell JB, Harrigan P, Weyman AE. 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
18. Levine RA, Handschumacher MD, Sanfilippo AJ, et al. Three-dimensional echocardiographic reconstruction of the mitral valve, with implications for the diagnosis of mitral valve prolapse. Circulation 1989;80:589-598
19. Savage DD, Garrison RJ, Devereux RB, et al. Mitral valve prolapse in the general population. 1. Epidemiologic features: The Framingham Study. Am Heart J 1983;106:571-576
20. Freed LA, Levy D, Levine RA, et al. Prevalence and clinical outcome of mitral-valve prolapse. N Engl J Med 1999;341:1-7
21. Boudoulas H, Kolibash AJ, Baker P, King BD, Wooley CF. Mitral valve prolapse and the mitral valve prolapse syndrome: A diagnostic classification and pathogenesis of symptoms. Am Heart J 1989;118:796-818
22. Hayek E, Gring CN, Griffin BP. Mitral valve prolapse. Lancet 2005;365:507-518
23. Strahan NV, Murphy EA, Fortuin NJ, Come PC, Humphries JO. Inheritance of the mitral valve prolapse syndrome. Discussion of a three-dimensional penetrance model. Am J Med 1983;74:967-972
24. Devereux RB, Brown WT. Genetics of mitral valve prolapse. Prog Med Genet 1983;5:139-161
25. Monteleone PL, Fagan LF. Possible X-linked congenital heart disease. Circulation 1969;39:611-614
26. Disse S, Abergel E, Berrebi A, et al. Mapping of a first locus for autosomal dominant myxomatous mitral-valve prolapse to chromosome 16p11.2-p12.1. Am J Hum Genet 1999;65:1238-1241
27. Freed LA, Acierno JS, Jr., Dai D, et al. A locus for autosomal dominant mitral valve prolapse on chromosome 11p15.4. Am J Hum Genet 2003;72:1551-1559
28. Nesta F, Leyne M, Yosefy C, et al. New locus for autosomal dominant mitral valve prolapse on chromosome 13: Clinical insights from genetic studies. Circulation 2005;112:1924-1926
29. Trochu JN Kyndt F, Schott JJ, et al. Clinical characteristics of a familial inherited myxomatous valvular dystrophy mapped to Xq28. J Am Coll Cardiol 2000;35:1890-1897
30. Kyndt F, Schott JJ, Trochu JN, et al. Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28. Am J Human Genet 1998;62:627-632
31. Szombathy T, Janoskuti L, Szalai C, et al. Angiotensin II type 1 receptor gene polymorphism and mitral valve prolapse syndrome. Am Heart J 2000;139:101-105
32. Chou HT, Hung JS, Chen YT, Shi YR, Tsai FJ. Association between angiotensin gene M235T polymorphism and mitral valve prolapse syndrome in Taiwan Chinese. J Heart Valve Dis 2002;11:830-836
33. Chou HT, Chen YT, Shi YR, Tsai FJ. Association between angiotensin I-converting enzyme gene insertion/deletion polymorphism and mitral valve prolapse syndrome. Am Heart J 2003;145:169-173
34. Chou TH, Chen YT, Wu JY, Tsai FJ. Association between urokinase-plasminogen activator gene T4065C polymorphism and risk of mitral valve prolapse. Int J Cardiol 2004;96:165-170
35. Glesby MJ, Pyeritz RE. Association of mitral valve prolapse and systemic abnormalities of connective tissue. A phenotypic continuum. JAMA 1989;262:523-528
36. 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
37. 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
38. Mizuguchi T, Collod-Beroud G, Akyama T, et al. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet 2004;36:855-860
39. Chou HT, Hung JS, Chen YT, Wu JY, Tsai FJ. Association between COL3A1 collagen gene exon 31 polymorphism and risk of floppy mitral valve/ mitral valve prolapse. Int J Cardiol 2004;95:299-305
40. Boileau C, Jondeau G, Mizuguchi T, Matsumoto N. Molecular genetics of Marfan syndrome. Curr Opin Cardiol 2005;20:194-200
41. Jaffe AS, Geltman EM, Rodey GE, Uitto J. Mitral valve prolapse: A consistent manifestation of type IV Ehlers-Danlos syndrome. The pathogenetic role of the abnormal production of type III collagen. Circulation 1981;64:121-125
42. Dolan AL, Mishra MB, Chambers JB, Grahame R. Clinical and echocardiographic survey of the Ehlers-Danlos syndrome. Br J Rheumatol 1997;36:459-462