Birgül VARAN, İlkay ERDOĞAN, Mehmet Emre ARI, Murat ÖZKAN

A rare cardiovascular finding in two cases with Williams syndrome: recurrent coarctation of aorta

Williams sendromu 7. kromozomda çoklu gen delesyonusonucunda oluşan genetik bir bozukluktur. Olguların çoğusporadiktir ve tipik yüz görünümü, kardiyak anomalilerve mental retardasyon mevcuttur. En sık supravalvüleraort darlığı ve pulmoner arteriyel darlık olmak üzere,olguların yaklaşık %80inde kardiyovasküler anomalilergörülmektedir. Bu yazıda yaşamın ilk beş ayında iki kerecerrahi ve iki kere perkütan balon dilatasyonu gerekli olan,aort koarktasyonunun hızlı ilerleyen formu görülen ikipediatrik olgu sunuldu.

Williams sendromlu iki olguda nadir bir kardiyovasküler bulgu: Tekrarlayan aort koarktasyonu

Williams syndrome is a genetic disorder caused bymultiple gene deletions on chromosome 7. The majorityof the cases is sporadic and has typical facial appearance,cardiac anomalies and mental retardation. Cardiovascularanomalies are present in about 80% of the cases, mostfrequently supravalvular aortic stenosis and pulmonaryarterial stenosis. In this article, we report two pediatriccases with a rapidly progressive form of aortic coarctation,each of whom required two surgeries and two percutaneousballoon dilatations within the first five months of life.

PDF

___

1. 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.
2. Del Pasqua A, Rinelli G, Toscano A, Iacobelli R, Digilio C, Marino B, et al. New findings concerning cardiovascular manifestations emerging from long-term follow-up of 150 patients with the Williams-Beuren-Beuren syndrome. Cardiol Young 2009;19:563-7.
3. Williams JC, Barratt-Boyes BG, Lowe JB. Supravalvular aortic stenosis. Circulation 1961;24:1311-8.
4. Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P, et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet 1993;5:11-6.
5. Collins RT, Kaplan P, Somes GW, Rome JJ. Cardiovascular abnormalities, interventions, and long-term outcomes in infantile Williams syndrome. J Pediatr 2010;156:253-8.
6. Keating MT. Genetic approaches to cardiovascular disease. Supravalvular aortic stenosis, Williams syndrome, and long- QT syndrome. Circulation 1995;92:142-7.
7. Collins RT, Kaplan P, Rome JJ. Stenosis of the thoracic aorta in Williams syndrome. Pediatr Cardiol 2010;31:829-33.
8. Sugayama SM, Moisés RL, Wagënfur J, Ikari NM, Abe KT, Leone C, et al. [Article in English, Portuguese] Williams- Beuren syndrome: cardiovascular abnormalities in 20 patients diagnosed with fluorescence in situ hybridization. Arq Bras Cardiol 2003;81:462-73.
9. Hallidie-Smith KA, Karas S. Cardiac anomalies in Williams- Beuren syndrome. Arch Dis Child 1988;63:809-13.
10. Narin N, Ozyürek R, Bakiler AR, Parlar A, Arcasoy M, Köprübaşi F. Williams syndrome and subaortic stenosis. Clin Genet 1993;44:223.
11. Committee on Genetics. American Academy of Pediatrics: Health care supervision for children with Williams syndrome. Pediatrics 2001;107:1192-204.
12. Hall EK, Glatz J, Kaplan P, Kaplan BS, Hellinger J, Ernst L, et al. A case report of rapid progressive coarctation and severe middle aortic syndrome in an infant with Williams syndrome. Congenit Heart Dis 2009;4:373-7.
13. Arrington C, Tristani-Firouzi M, Puchalski M. Rapid progression of long-segment coarctation in a patient with Williams syndrome. Cardiol Young 2005;15:312-4.
14. Marks JL, Mitchell MB, Campbell DN, Toews WH. Composite aortoplasty for recurrent coarctation after neonatal repair in Williams syndrome. Ann Thorac Surg 2004;77:319-21.