Genetic study on cardiac septal defects in children with congenital heart diseases

Abstract

This present study included 30 patients with congenital cardiac septal defects (18 females, 12 males) who were recruited from the cardiology outpatient clinic of Cairo University Children’s hospital (CUCH) and the clinical genetics clinic at the National Research Centre (NRC). In addition to a group of 30 non- cardiac age matching children as a control group. The age of patients in this study ranged from 1 month to 17 years of average age of 2.275 years ± (3.44 SD). The main aim of the study is to determine whether NKx2.5 gene mutations are responsible for the cardiac septal defects among the patients of the studied sample. All cases in the current study were subjected to complete history taking with special emphasis on consanguinity and family history of similar condition. Echocardiogram was performed to all patients in order to diagnose the cardiac septal defect. Karyotyping was done to all patients to diagnose chromosomal abnormalities. FISH analysis for 22q microdeletion was done to some selected patients. Mutation screening of NKX2.5 gene was performed to all patients. Analysis of all molecular results was performed using bioinformatics. Positive consanguinity was found in 53% of cases. Advanced paternal age was found in 33%, while advanced maternal age was found in 13 % of cases. Positive family history of similar condition was reported in only 10% of cases where autosomal recessive inheritance of the disease could be suspected. On echocardiographic examination; ventricular septal defects were the most common pathological phenotype representing more than 36% of cases.