Abstract
Amaç: Williams-Beuren Sendromu nadir görülen genetik bir hastalıktır. Bu hastalarda doğumsal kalp hastalıkları sık görülmekte ve sendromdaki en önemli mortalite ve morbidite nedenini oluşturmaktadır. Çalışmamızda, Williams sendromu tanısı ile takip edilen hastalarımızın kardiyovasküler bulguları ve klinik izlemleri değerlendirildi.
Gereç ve Yöntemler: Ocak 2011- Kasım 2017 tarihleri arasında Çocuk Kardiyoloji Bölümü tarafından Williams Sendrom tanısı koyulan toplam 12 olgu değerlendirildi.
Bulgular: Hastaların %83’ünde doğumsal kalp hastalığı mevcuttu. En sık görülen kardiyak anomali pulmoner stenozdu. Hastaların %60’ında pulmoner stenoz, %50’sinde aort stenozu, %30’unda ventriküler septal defekt, %20’sinde atriyal septal defekt saptandı. Birer olguda hipertrofik kardiyomiyopati, aort koarktasyonu ve mitral kapak prolapsusu vardı. Eşlik eden ek anomalilere bakıldığında; hastaların %50’sinde hipotiroidi, %50’sinde idiyopatik hiperkalsemi, %16’sında nefrolitiyazis, %34’ünde herni saptandı.
Sonuç: Williams sendromlu hastalarda doğumsal kalp hastalıkları sık görülmektedir. Klinik belirti ve bulgu olmasa da bu çocukların kardiyak açıdan değerlendirilmesi, erken tanıyı sağlayacak ve ileride ortaya çıkabilecek geri dönüşümsüz komplikasyonların gelişmesini engelleyecektir. Bu hastalar; eşlik edebilecek çoklu sistemik bozukluklar açısından belirli aralıklarla izlenmelidir.
Keywords
References
- 1. Williams JCP, Barratt-Boyes BG, Lowe JB. Supravalvular aortic stenosis. Circulation 1961;24:1311-8.
- 2. Beuren AJ, Apitz J, Harmjanz D. Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation 1962;26:1235-40.
- 3. Sugayama SMM, Moises RL, Wagenfur J. Williams-Beuren syndrome: Cardiovascular abnormalities in 20 patients diagnosed with fluorescence in situ hybridization. Arq Bras Cardiol 2003; 81:462-73.
- 4. Morris CA, Demsey AS, Leonard CO. Natural history of Williams syndrome: Physical characteristics. J Pediatr 1988;113:318-26.
- 5. Figuero J, Rodriguez L, Hach J. Cardiovascular spectrum in Williams-Beuren syndrome: The Mexican experience in 40 patients. Tex Heart Inst J 2008;35:279-85.
Abstract
References
- 1. Williams JCP, Barratt-Boyes BG, Lowe JB. Supravalvular aortic stenosis. Circulation 1961;24:1311-8.
- 2. Beuren AJ, Apitz J, Harmjanz D. Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation 1962;26:1235-40.
- 3. Sugayama SMM, Moises RL, Wagenfur J. Williams-Beuren syndrome: Cardiovascular abnormalities in 20 patients diagnosed with fluorescence in situ hybridization. Arq Bras Cardiol 2003; 81:462-73.
- 4. Morris CA, Demsey AS, Leonard CO. Natural history of Williams syndrome: Physical characteristics. J Pediatr 1988;113:318-26.
- 5. Figuero J, Rodriguez L, Hach J. Cardiovascular spectrum in Williams-Beuren syndrome: The Mexican experience in 40 patients. Tex Heart Inst J 2008;35:279-85.
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Internal Diseases |
| Journal Section | ORIGINAL ARTICLES |
| Authors | |
| Publication Date | March 18, 2020 |
| Submission Date | September 13, 2018 |
| Published in Issue | Year 2020 Volume: 14 Issue: 2 |
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, with at least 6 original articles in each issue, 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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