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

Year 2022, , 159 - 163, 30.05.2022

Hande Kaymakcalan Leyla Yalcınkaya Emrah Nıkerel Yalim Yalcın Weilai Dong Adife Gulhan Ercan Sencıcek

https://doi.org/10.5472/marumj.1120570

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.

Keywords

Congenital heart disease, Genetics, Genetic counseling

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