dc.contributor.author | Kaymakcalan, Hande | |
dc.contributor.author | Yalcinkaya, Leyla | |
dc.contributor.author | Nikerel, Emrah | |
dc.contributor.author | Yalcin, Yalim | |
dc.contributor.author | Dong, Weilai | |
dc.contributor.author | Sencicek, Adife Gulhan Ercan | |
dc.date.accessioned | 2022-11-04T19:55:40Z | |
dc.date.available | 2022-11-04T19:55:40Z | |
dc.date.issued | 2022 | |
dc.identifier.issn | 1309-9469 | |
dc.identifier.uri | https://doi.org/10.5472/marumj.1120570 | |
dc.identifier.uri | http://hdl.handle.net/11446/4594 | |
dc.description.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,onc 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.description.sponsorship | Yale Center for Mendelian Genomics [UM1HG006504]; National Human Genome Research Institute; National Heart, Lung, and Blood Institute | en_US |
dc.description.sponsorship | This work was supported by The Yale Center for Mendelian Genomics (UM1HG006504) which is funded by the National Human Genome Research Institute and National Heart, Lung, and Blood Institute. | en_US |
dc.language.iso | eng | en_US |
dc.publisher | Marmara Univ, Fac Medicine | en_US |
dc.relation.ispartof | Marmara Medical Journal | en_US |
dc.identifier.doi | 10.5472/marumj.1120570 | en_US |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.subject | Congenital heart disease | en_US |
dc.subject | Genetics | en_US |
dc.subject | Genetic counseling | en_US |
dc.subject | De-Novo Mutations | en_US |
dc.subject | 22q11.2 Deletion | en_US |
dc.subject | Variants | en_US |
dc.title | Clinical, demographic and genetic features of patients with congenital heart disease : A single center experience | en_US |
dc.type | article | en_US |
dc.identifier.issue | 2 | en_US |
dc.identifier.volume | 35 | en_US |
dc.identifier.startpage | 159 | en_US |
dc.identifier.endpage | 163 | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.department-temp | [Kaymakcalan, Hande] Demiroglu Bilim Univ, Sch Med, Dept Med Genet, Istanbul, Turkey; [Yalcinkaya, Leyla] Bilkent Univ, Fac Sci, Dept Mol Biol & Genet, Ankara, Turkey; [Nikerel, Emrah] Yeditepe Univ, Fac Engn, Genet & Bioengn Dept, Istanbul, Turkey; [Yalcin, Yalim] Demiroglu Bilim Univ, Sch Med, Dept Pediat, Pediat Cardiol Unit, Istanbul, Turkey; [Dong, Weilai; Sencicek, Adife Gulhan Ercan] Yale Univ, Sch Med, Dept Genet, New Haven, CT 06510 USA; [Dong, Weilai] Rockefeller Univ, Lab Human Genet & Genom, 1230 York Ave, New York, NY 10021 USA; [Sencicek, Adife Gulhan Ercan] Masonic Med Res Inst, Biomed Res & Translat Med, Utica, NY USA | en_US |
dc.identifier.scopus | 2-s2.0-85132074147 | en_US |
dc.identifier.wos | WOS:000806472400007 | en_US |
dc.authorscopusid | 15032986100 | |
dc.authorscopusid | 57226030133 | |
dc.authorscopusid | 55212161400 | |
dc.authorscopusid | 57207543931 | |
dc.authorscopusid | 57198896351 | |
dc.authorscopusid | 9242823300 | |