Abstract
Amaç: Down sendromu sık rastlanan kromozomal hastalıklardan biridir. Bu hastalarda doğumsal kalp hastalıkları sık görülmekte ve sendromdaki en önemli mortalite ve morbidite nedenini oluşturmaktadır. Çalışmada, Çocuk Kardiyoloji Ünitemize Down sendromu tanısı ile başvuran hastaların demografik özellikleri, eşlik eden doğumsal kalp hastalıkları ve ek anomalileri değerlendirildi.Gereç ve Yöntemler: Ocak 2010-Aralık 2015 tarihleri arasında Çocuk Kardiyoloji Bölümüne başvuran Down Sendromlu toplam 107 olgunun verileri değerlendirildi.Bulgular: Down sendromlu hastaların %77.5’in de doğumsal kalp hastalığı mevcuttu. Bu hastaların %49.3’ün de sekundum tip atriyal septal defekt, %33.7’sinde ventriküler septal defekt, %18.1’inde komplet tip atriyoventriküler septal defekt, %10.8’inde patent duktus arteriyosuz, %3.7’sinde biküspit aortik kapak saptandı. Birer olguda ise pulmoner stenoz, aort koarktasyonu ve fallot tetralojisi vardı. Eşlik eden ek anomalilere bakıldığında; hastaların %38.3’ün dehipotiroidi, %6.5’inde görme bozukluğu, %5.6’sında işitme problemleri, %3.7’sinde inmemiş testis vardı. Hipotiroidisi olan hastalarda kardiyak defektlerin daha fazla olduğu gözlendi (p<0.05).Sonuç: Down sendromlu hastalarda doğumsal kalp hastalıkları sık görülmektedir. Klinik belirti ve bulgu olmasa da bu çocukların kardiyak açıdan değerlendirmesi, erken tanıyı sağlayacak ve ileride ortaya çıkabilecek geri dönüşümsüz komplikasyonların gelişmesini engelleyecektir.
Keywords
References
- Pavarino Bertelli EC, Biselli JM, Bonfim D, Goloni-Bertollo EM. Clinical profile of children with Down syndrome treated in a genetics outpatient service in the southeast of Brazil. Rev Assoc Med Bras 2009;55:547-52.
- Asim A, Kumar A, Muthuswamy S, Jain S, Agarwalet S. Down syndrome: An insight of the disease. J Biomed Sci 2015;22:41.
- Acar M, Zorlu P, Tos T, Koca SB, Şenel S. Down sendromlu hastaların demografi̇k ve kli̇ni̇k özelli̇kleri̇ni̇n değerlendi̇ri̇lmesi̇: Tek merkez deneyimi. Türkiye Çocuk Hast Derg 2014;2:71-4.
- Bermudez BE, Medeiros SL, Bermudez MB, Novadzki IM, Magdalena NI. Down syndrome: Prevalence and distribution of congenital heart disease in Brazil. Sao Paulo Med J 2015;133: 521-4.
- Alp MN, Oral D, Budak T. Down sendromu ön tanılı 584 olguda sitogenetik çalışma. Dicle Tıp Dergisi 2007;34:283-9.
Abstract
Objective: Down syndrome is one of the most common chromosomal disorders. Congenital heart diseases in patients with Down syndrome are seen frequently and the most important cause of morbidity and mortality in this syndrome. In this study, the demographic characteristics, comorbid diseases and congenital heart anomalies of patients with Down syndrome admitted to our Pediatric Cardiology Department were evaluated.Material and Methods: The data of 107 subjects with Down syndrome admitted to our Pediatric Cardiology Department between January 2010 and December 2015 were evaluated.Results: Congenital heart diseases were presented in 77.5% of the patients with Down syndrome. There was a secundum atrial septal defect in 49.3%, ventricular septal defect in 33.7%, complete type atrioventricular septal defect in 18.1%, patent ductus arteriosus in 10.8%, and bicuspid aortic valve in 3.7%. There was pulmonary stenosis in one case, aorta coarctation in one case and Tetralogy of Fallot in one case. As regards an additional abnormality; there was hypothyroidism in 38.3%, visual impairment in 6.5%, hearing problems in 5.6%, and undescended testicle in 3.7% of the patients with Down syndrome. Cardiac defects were observed more frequently in patients with hypothyroidism than without hypothyroidism (p<0.05).conclusion: Congenital heart diseases are common in patients with Down syndrome. Even when there are no clinical signs and symptoms, cardiac evaluation of patients with Down syndrome provides early diagnosis and prevents the development of irreversible complications that may arise in the future
Keywords
References
- Pavarino Bertelli EC, Biselli JM, Bonfim D, Goloni-Bertollo EM. Clinical profile of children with Down syndrome treated in a genetics outpatient service in the southeast of Brazil. Rev Assoc Med Bras 2009;55:547-52.
- Asim A, Kumar A, Muthuswamy S, Jain S, Agarwalet S. Down syndrome: An insight of the disease. J Biomed Sci 2015;22:41.
- Acar M, Zorlu P, Tos T, Koca SB, Şenel S. Down sendromlu hastaların demografi̇k ve kli̇ni̇k özelli̇kleri̇ni̇n değerlendi̇ri̇lmesi̇: Tek merkez deneyimi. Türkiye Çocuk Hast Derg 2014;2:71-4.
- Bermudez BE, Medeiros SL, Bermudez MB, Novadzki IM, Magdalena NI. Down syndrome: Prevalence and distribution of congenital heart disease in Brazil. Sao Paulo Med J 2015;133: 521-4.
- Alp MN, Oral D, Budak T. Down sendromu ön tanılı 584 olguda sitogenetik çalışma. Dicle Tıp Dergisi 2007;34:283-9.
Details
| Other ID | JA65JH55DR |
|---|---|
| Journal Section | Research Article |
| Authors | |
| Publication Date | June 1, 2017 |
| Submission Date | June 1, 2017 |
| Published in Issue | Year 2017 Volume: 11 Issue: 2 |
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The publication language of Turkish Journal of Pediatric Disease is English.
Manuscripts submitted to the Turkish Journal of Pediatric Disease will go through a double-blind peer-review process. Each submission will be reviewed by at least two external, independent peer reviewers who are experts in the field, in order to ensure an unbiased evaluation process. The editorial board will invite an external and independent editor to manage the evaluation processes of manuscripts submitted by editors or by the editorial board members of the journal. The Editor in Chief is the final authority in the decision-making process for all submissions. Articles accepted for publication in the Turkish Journal of Pediatrics are put in the order of publication taking into account the acceptance dates. If the articles sent to the reviewers for evaluation are assessed as a senior for publication by the reviewers, the section editor and the editor considering all aspects (originality, high scientific quality and citation potential), it receives publication priority in addition to the articles assigned for the next issue.
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