Clinical, demographic and genetic features of patients with congenital heart disease: A single center experience

Abstract

Objective: We aimed to evaluate the demographic and clinical characteristics of children with congenital heart disease (CHD) in a private pediatric cardiovascular genetics clinic in Istanbul from January 2016 to July 2018 and increase the awareness and emphasize the importance of genetic counseling in CHD.

Patients and Methods: One hundred and seventeen patients (50 female, 67 male) from 3 days of age to 25 years of age in 17 months period ( January 2016 to July 2018) were retrospectively analyzed. Data included age, sex, echocardiography results, extracardiac features, genetic test results, consanguinity and any family member with heart disease. Pearson’s chi-squared test with 1 degree of freedom and 5% significance was used for correlations.

Results: Consanguinity rate was 23.9%. Most common diagnosis was Tetralogy of Fallot (TOF) followed by atrial septal defect (ASD) and ventricular septal defect (VSD) equally. 30 patients had genetic testing which revealed a diagnosis in 36.6 % of the patients. 6 patients had DiGeorge, one had Renpenning,one had Kabuki syndrome. We had one NODAL, one MYH7 and one MYH6 variant.

Conclusion: Genetic testing in CHD has a high diagnostic yield. Genetic counseling can help diagnostic, prognostic, and therapeutic and family planning decision making.