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

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buir.contributor.authorYalçınkaya, Leyla
dc.citation.epage163en_US
dc.citation.issueNumber2en_US
dc.citation.spage159en_US
dc.citation.volumeNumber35en_US
dc.contributor.authorKaymakçalan, Hande
dc.contributor.authorYalçınkaya, Leyla
dc.contributor.authorNikerel, Emrah
dc.contributor.authorYalçın, Yalim
dc.contributor.authorDong, Weilai
dc.date.accessioned2023-02-25T12:08:21Z
dc.date.available2023-02-25T12:08:21Z
dc.date.issued2022-05-30
dc.departmentDepartment of Molecular Biology and Geneticsen_US
dc.description.abstractObjective: 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.en_US
dc.identifier.doi10.5472/marumj.1120570en_US
dc.identifier.issn10191941
dc.identifier.urihttp://hdl.handle.net/11693/111736
dc.language.isoEnglishen_US
dc.publisherMarmara Universityen_US
dc.relation.isversionofhttps://dx.doi.org/10.5472/marumj.1120570en_US
dc.source.titleMarmara Medical Journalen_US
dc.subjectCongenital heart diseaseen_US
dc.subjectGeneticsen_US
dc.subjectGenetic counselingen_US
dc.titleClinical, demographic and genetic features of patients with congenital heart disease: A single center experienceen_US
dc.typeArticleen_US

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