Cardiology in the Young

Original Articles

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

Osman Ozdemira1 c1, Rana Olgunturka2, Kadri Karaera3, Mehmet Ali Erguna3, Fatma Sedef Tunaoglua2, Serdar Kulaa2 and Ferda Emriye Percina3

a1 Department of Paediatric Cardiology, Kecioren Training and Research Hospital, Ankara, Turkey

a2 Department of Paediatric Cardiology, Ankara, Turkey

a3 Department of Medical Genetics, Gazi University, School of Medicine, Ankara, Turkey


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.

(Received April 27 2009)

(Accepted October 18 2009)

(Online publication March 04 2010)


c1 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:


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