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Down Sendromlu Çocukların Klinik ve Ekokardiyografik Değerlendirmesi

Year 2017, Volume: 11 Issue: 2, 116 - 119, 01.06.2017

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.

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.

Clinical and Echocardiographic Evaluation of Children with Down Syndrome

Year 2017, Volume: 11 Issue: 2, 116 - 119, 01.06.2017

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

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.
There are 5 citations in total.

Details

Other ID JA65JH55DR
Journal Section Research Article
Authors

Özlem Gül This is me

Dolunay Gürses This is me

Mustafa Doğan This is me

Publication Date June 1, 2017
Submission Date June 1, 2017
Published in Issue Year 2017 Volume: 11 Issue: 2

Cite

Vancouver Gül Ö, Gürses D, Doğan M. Clinical and Echocardiographic Evaluation of Children with Down Syndrome. Türkiye Çocuk Hast Derg. 2017;11(2):116-9.


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