Objective: There is evidence that most congenital cardiac anomalies are associated with failures during heart development or process of determination of left-right axis. CFC1 gene, which belongs to EGF-CFC gene family, is a gene responsible for left-right axis. Also, mutation of CFC1 gene has been detected in individuals with complex cardiac disease without heterotaxia. The purpose of this study is to determine the R78W polymorphism frequency of CFC1 gene in congenital cyanotic cardiac diseases and patients with dextrocardia and situs anomaly.
Methods: Hundred and seven patients with cyanotic congenital heart disease at the age range of 0-16 years were included in the study. The diagnoses were confirmed by clinical and laboratory (ECG, chest x-ray, echocardiography, cardiac catheterisation) examinations. Age matched 100 normal children were included as controls. R78W polymorphism of CFC1 gene was evaluated using PCR with restriction analysis technique in both groups.
Results: R78W polymorphism frequency of CFC1 gene could not be shown in patient and control groups.
Conclusion: In this study, R78W polymorphism of CFC1 gene was not detected in 207 events which include patient and control groups. This result is parallel to the findings of the literature which indicates that this polymorphism is rare in caucasians and usually detected in African-Americans and Asians. As this mutation is rarely detected in congenital cardiac defects, it may not be directly related to the etiology of this disease group. Following investigations with larger groups and/or meta-analysis of the previous studies will bring solutions to this issue.