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.
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