Canan AYABAKAN, Özlem SARISOY, Rıza TÜRKÖZ, Kürşad TOKEL, Emre ÖZKER, Can VURAN, Bülent SARITAŞ

Williams sendromlu hastaların kardiyak patolojileri ve klinik izlemi

Ağustos 2008 - Ağustos 2011 tarihleri arasında Williams sendromlu dokuz hasta (3 kız, 6 erkek; ort. yaş 19±29 ay) kliniğimize başvurdu. Hastaların vücut ağırlıkları 9454±5880 g idi. Hastaların ikisinde supravalvüler aortdarlığı (sAS), birinde periferik pulmoner darlık (PPS),birinde supravalvüler PS (sPS), ikisinde sAS ve sPS, üçünde sAS ve iki taraflı PPS saptandı. İki hasta ameliyatedilmedi. Dört hastaya sAS ve PPS, bir hastaya sAS ilevalvüler ve sPS, bir hastaya sPS ve PPS, bir hastaya sAS ameliyatı yapıldı. Gradyanlarda azalma olmakla birlikte,izlemde artış saptanmadı.

Cardiac pathologies and clinical follow-up of patients with Williams syndrome

Between August 2008 and August 2011, nine patients (3 girls, 6 boys; mean age 19±29 months) were admitted to our clinic with Williams syndrome. The mean body weight of the patients was 9454±5880 g. Two patients had supravalvular aortic stenosis (sAS), one had periferal pulmonary stenosis (PPS), one had supravalvular PS (sPS), two had sAS and sPS, and three had sAS and bilateral PPS. Two patients were not operated. Four patients were operated for sAS and PPS, one patient for sAS, valvular and sPS, one patient for PPS and sPS, and one patient for sAS operation. The gradients were decreased and remained unchanged during follow-up.

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1. De Rubens Figueroa J, Rodríguez LM, Hach JL, Del Castillo Ruíz V, Martínez HO. Cardiovascular spectrum in Williams- Beuren syndrome: the Mexican experience in 40 patients. Tex Heart Inst J 2008;35:279-85.
2. Gandy KL, Tweddell JS, Pelech AN. How we approach peripheral pulmonary stenosis in Williams-Beuren syndrome. Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2009:118-21.
3. Burn J. Williams syndrome. J Med Genet 1986;23:389-95.
4. Pober BR, Johnson M, Urban Z. Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome. J Clin Invest 2008;118:1606-15.
5. Pham PP, Moller JH, Hills C, Larson V, Pyles L. Cardiac catheterization and operative outcomes from a multicenter consortium for children with williams syndrome. Pediatr Cardiol 2009;30:9-14.
6. Hickey EJ, Jung G, Williams WG, Manlhiot C, Van Arsdell GS, Caldarone CA, et al. Congenital supravalvular aortic stenosis: defining surgical and nonsurgical outcomes. Ann Thorac Surg 2008;86:1919-27.
7. Albacker TB, Payne DM, Dancea A, Tchervenkov C. Management of supravalvar aortic stenosis and severely depressed left ventricular function in a neonate with Williams syndrome. Eur J Cardiothorac Surg 2009;35:915-6.
8. Collins RT 2nd, Kaplan P, Rome JJ. Stenosis of the thoracic aorta in Williams syndrome. Pediatr Cardiol 2010;31:829-33.
9. Scheiber D, Fekete G, Urban Z, Tarjan I, Balaton G, Kosa L, et al. Echocardiographic findings in patients with Williams-Beuren syndrome. Wien Klin Wochenschr 2006;118:538-42.
10. Wang CC, Hwu WL, Wu ET, Lu F, Wang JK, Wu MH. Outcome of pulmonary and aortic stenosis in Williams- Beuren syndrome in an Asian cohort. Acta Paediatr 2007;96:906-9.
11. Baykan A, Onan SH, Sezer S, Akalın H, Özkırış A, Ceyran H, et al. Williams-Beuren sendromlu 31 olgunun retrospektif değerlendirilmesi. Erciyes Tıp Dergisi 2009;31:185-90.
12. Eroglu AG, Babaoglu K, Oztunc F, Saltik L, Demir T, Ahunbay G, et al. Echocardiographic follow-up of children with supravalvular aortic stenosis. Pediatr Cardiol 2006;27:707-12.
13. Miyamura H, Watanabe H, Tatebe S, Eguchi S. Spontaneous regression of peripheral pulmonary artery stenosis in Williams syndrome. Jpn Circ J 1996;60:311-4.