Hostname: page-component-cd9895bd7-gxg78 Total loading time: 0 Render date: 2024-12-26T22:55:06.113Z Has data issue: false hasContentIssue false
  • English
  • Français

Fibrillin-1 gene intron 56 polymorphism in Turkish children with mitral valve prolapse*

Published online by Cambridge University Press:  04 March 2010

Osman Ozdemir ,
Rana Olgunturk ,
Kadri Karaer ,
Mehmet Ali Ergun ,
Fatma Sedef Tunaoglu ,
Serdar Kula  and
Ferda Emriye Percin
Osman Ozdemir*
Affiliation:
Department of Paediatric Cardiology, Kecioren Training and Research Hospital, Ankara, Turkey
Rana Olgunturk
Affiliation:
Department of Paediatric Cardiology, Ankara, Turkey
Kadri Karaer
Affiliation:
Department of Medical Genetics, Gazi University, School of Medicine, Ankara, Turkey
Mehmet Ali Ergun
Affiliation:
Department of Medical Genetics, Gazi University, School of Medicine, Ankara, Turkey
Fatma Sedef Tunaoglu
Affiliation:
Department of Paediatric Cardiology, Ankara, Turkey
Serdar Kula
Affiliation:
Department of Paediatric Cardiology, Ankara, Turkey
Ferda Emriye Percin
Affiliation:
Department of Medical Genetics, Gazi University, School of Medicine, Ankara, Turkey
*
Correspondence to: Osman Ozdemir, Kecioren Egitim ve Arastirma Hastanesi, Sanatoryum Caddesi, Pinarbasi Mahallesi, Ardahan Sokak, No 1, Kecioren, Ankara, Turkey, 06280. Tel: +90 532 6281209; Fax: +90 312 3569002; E-mail: [email protected]
Get access Rights & Permissions [Opens in a new window]

Abstract

Objective

Mitral valvar prolapse is the most common anomaly of the mitral valve apparatus throughout childhood. Fibrillin is one of the structural components of the elastin-associated microfibrils found in the mitral valve. A case-controlled study has performed to investigate the relationship between fibrillin 1 gene intron 56 polymorphism and risk of mitral valvar prolapse in Turkish children.

Patients and methods

A total of 77 patients with mitral valvar prolapse diagnosed by clinical evaluation and echocardiography and 89 normal children of same age and sex were studied. The fibrillin-1 gene intron 56 polymorphism was identified by the polymerase chain reaction-based restriction analysis.

Results

There was a significant difference in the distribution of fibrillin-1 gene intron 56 genotypes (p = 0.0001) and allelic frequency (p = 0.0001) between the cases and the controls.

Conclusions

Patients with mitral valvar prolapse have higher frequencies of fibrillin-1 gene intron 56 GC genotypes. Healthy children have higher frequencies of fibrillin-1 gene intron 56 CC genotypes. We speculate that the higher frequency of fibrillin-1 gene intron 56 G-allele increases the risk of mitral valvar prolapse.

Keywords

Fibrillinopathiesgenetic disorderscardiac valve diseases
Type
Original Articles
Information
Cardiology in the Young , Volume 20 , Issue 2 , April 2010 , pp. 173 - 177
Copyright
Copyright © Cambridge University Press 2010

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Footnotes

*

There is no financial support or relationships that may pose conflict of interest.

References

1.Boudoulas, H, Sparks, E, Wooley, CF. The floppy mitral valve, mitral valve prolapse, and mitral valvular regurgitation. In: Allen HD, Driscoll DJ, Shaddy RE, Feltes TF (eds). Moss and Adams’ Heart Disease in Infants, Children, and Adolescents: Including the Fetus and Young Adult, Vol. 2, 7th edition. Lippincott Williams & Wilkins, Philadelphia, 2008, pp 946–968.Google Scholar
2.Freed, LA, Levy, D, Levine, RA, et al. Prevalence and clinical outcome of mitral valve prolapse. N Eng J Med 1999; 341: 1–7.CrossRefGoogle ScholarPubMed
3.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: 1242–1251.CrossRefGoogle ScholarPubMed
4.Freed, LA, Acierno, JS, Dai, D, et al. A locus for autosomal dominant mitral valve prolapse on chromosome 11p15.4. Am J Hum Genet 2003; 72: 1551–1559.CrossRefGoogle ScholarPubMed
5.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: 2022–2030.CrossRefGoogle ScholarPubMed
6.Glesby, MJ, Pyeritz, RE. Association of mitral valve prolapse and systemic abnormalities of connective tissue. A phenotypic continuum. JAMA 1989; 262: 523–528.CrossRefGoogle ScholarPubMed
7.Tamura, K, Fukuda, Y, Ishizaki, M, Masuda, Y, Yamanaka, N, Ferrans, VJ. Abnormalities in elastic fibers and other connective-tissue components of floppy mitral valve. Am Heart J 1995; 129: 1149–1158.CrossRefGoogle ScholarPubMed
8.Robinson, PN, Arteaga-Solis, E, Baldock, C, et al. The molecular genetics of Marfan syndrome and related disorders. J Med Genet 2006; 43: 769–787.CrossRefGoogle ScholarPubMed
9.Loeys, BL, Matthys, DM, De Paepe, AMD. Genetic fibrillinopathies: new insights in molecular diagnosis and clinical management. Acta Clinica Belgica 2002; 58: 233–241.Google Scholar
10.Freed, LA, Benjamin, EJ, Levy, D, et al. Mitral valve prolapse in the general population: the benign nature of echocardiographic features in the Framingham Heart Study. J Am Coll Cardiol 2002; 40: 1298–1304.CrossRefGoogle ScholarPubMed
11.Mechleb, BK, Kasasbeh, ES, Iskandar, SB, Schoondyke, JW, Garcia, ID. Mitral valve prolapse: relationship of echocardiography characteristics to natural history. Echocardiography 2006; 23: 434–437.CrossRefGoogle ScholarPubMed
12.Edwards, WD. Cardiac anatomy and examination of cardiac specimens. In: Allen HD, Driscoll DJ, Shaddy RE, Feltes TF (eds). Moss and Adams’ Heart Disease in Infants, Children, and Adolescents: Including the Fetus and Young Adult, Vol. 1, 7th edition. Lippincott Williams & Wilkins, Philadelphia, 2008, pp 2–34.Google Scholar
13.Kyndt, F, Schott, JJ, Trochu, JN, et al. Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28. Am J Hum Genet 1998; 62: 627–632.CrossRefGoogle ScholarPubMed
14.Weyman, AE, Scherrer-Crosbie, M. Marfan syndrome and mitral valve prolapse. J Clin Invest 2004; 114: 1543–1546.CrossRefGoogle ScholarPubMed
15.Chou, HT, Shi, YR, Hsu, Y, Tsai, FJ. Association between fibrillin 1 gene exon 15 and 27 polymorphisms and risk of mitral valve prolapse. J Heart Valve Dis 2003; 12: 475–481.Google ScholarPubMed