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

Authors : Hande KAYMAKCALAN, Leyla YALCINKAYA, Emrah NIKEREL, Yalim YALCIN, Weilai DONG, Adife Gulhan ERCAN SENCICEK

Pages : 159-163

Doi:10.5472/marumj.1120570

View : 11 | Download : 6

Publication Date : 2022-05-30

Article Type : Research Paper

Abstract :Objective: We aimed to evaluate the demographic and clinical characteristics of children with congenital heart disease insert ignore into journalissuearticles values(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 insert ignore into journalissuearticles values(50 female, 67 male); from 3 days of age to 25 years of age in 17 months period insert ignore into journalissuearticles values( 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 insert ignore into journalissuearticles values(TOF); followed by atrial septal defect insert ignore into journalissuearticles values(ASD); and ventricular septal defect insert ignore into journalissuearticles values(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.
Keywords : Congenital heart disease, Genetics, Genetic counseling