Cardiovascular spectrum in Williams-Beuren syndrome: The Mexican experience in 40 patients

Texas Heart Institute Journal

Volumn 35, Issue 3, 2008, Pages 279-285

  De Rubens Figueroa, Jesús ^a   Olivares Rodríguez, Luz María ^a   Pablos Hach, José Luis ^a   Del Castillo Ruíz, Victoria ^a   Osnaya Martínez, Héctor ^a  

^a INSTITUTO NACIONAL DE PEDIATRÍA   (Mexico)

Author keywords

Aortic coarctation; Aortic valve stenosis, supravalvular; Child; Elastin genetics; Face abnormalities; Facial expression; Gene deletion; Heart defects, congenital diagnosis; Hypercalcemia; Mental retardation; Mexico epidemiology; Psychomotor performance

Indexed keywords

ADOLESCENT; AORTA SUPRAVALVULAR STENOSIS; AORTOPLASTY; ARTICLE; BICUSPID AORTIC VALVE; CARDIOVASCULAR MALFORMATION; CHILD; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; FEMALE; HEART SURGERY; HUMAN; INFANT; MALE; MEXICO; PULMONARY ARTERY STENOSIS; WILLIAMS BEUREN SYNDROME;

ADOLESCENT; AORTIC STENOSIS, SUPRAVALVULAR; AORTIC VALVE; AORTOGRAPHY; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 7; CONSTRICTION, PATHOLOGIC; CROSS-CULTURAL COMPARISON; CROSS-SECTIONAL STUDIES; DUCTUS ARTERIOSUS, PATENT; FEMALE; HEART DEFECTS, CONGENITAL; HEART SEPTAL DEFECTS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; MEXICO; PULMONARY ARTERY; RETROSPECTIVE STUDIES; WILLIAMS SYNDROME;

EID: 56049128203     PISSN: 07302347     EISSN: 15266702     Source Type: Journal    
DOI: None     Document Type: Article

References (52)

1. Morris CA, Demsey SA, Leonard CO, Dilts C, Blackburn BL. Natural history of Williams syndrome: physical characteristics. J Pediatr 1988;113(2):318-26.
2. Jones KL, Smith DW. The Williams elfin facies syndrome. A new perspective. J Pediatr 1975;86(5):718-23.
3. Preus M. The Williams syndrome: objective definition and diagnosis. Clin Genet 1984;25(5):422-8.
4. Greenberg F. Williams syndrome. Pediatrics 1989;84(5):922-3.
5. Cassidy SB, Allanson JE. Williams syndrome. In: Management of genetic syndromes. New York: Wiley-Liss; 2001. p. 517-32.
6. Taybi H, Lachman RS. In: Radiology of syndromes, metabolic disorders, and skeletal dysplasias. 4th ed. St. Louis: Mosby; 1996. p. 528-30.
7. Williams JC, Barratt-Boyes BG, Lowe JB. Supravalvular aortic stenosis. Circulation 1961;24:1311-8.
8. Rashkind WJ, Golinko R, Arcasoy M. Cardiac findings in idiopathic hypercalcemia of infancy. J Pediatr 1961;58:464-9.
9. Beuren AJ, Apitz J, Harmjanz D. Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation 1962;26:1235-40.
10. Beuren AJ, Schulze C, Eberle P, Harmjanz D, Apitz J. The syndrome of supravalvular aortic stenosis, peripheral pulmonary stenosis, mental retardation and similar facial appearance. Am J Cardiol 1964;13:471-83.
11. Gorlin RJ, Cohen MM, Levin LS. In: Syndromes of the head and neck. 3rd ed. New York: Oxford University Press; 1990. p. 143-8.
12. Ino T, Nishimoto K, Iwahara M, Akimoto K, Boku H, Kaneko K, et al. Progressive vascular lesions in Williams-Beuren syndrome. Pediatr Cardiol 1988;9(1):55-8.
13. Curran ME, Atkinson DL, Ewart AK, Morris CA, Leppert MF, Keating MT. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell 1993;73(1):159-68.
14. Ewart AK, Jin W, Atkinson D, Morris CA, Keating MT. Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. J Clin Invest 1994;93(3):1071-7.
15. 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(1):11-6.
16. Lashkari A, Smith AK, Graham JM Jr. Williams-Beuren syndrome: an update and review for the primary physician. Clin Pediatr (Phila) 1999;38(4):189-208.
17. Pascual-Castroviejo I, Pascual-Pascual SI, Moreno Granado F, Garcia-Guereta L, Gracia-Bouthelier R, Navarro Torres M, et al. Williams-Beuren syndrome: presentation of 82 cases [in Spanish]. An Pediatr (Barc) 2004;60(6):530-6.
18. Bird LM, Billman GF, Lacro RV, Spicer RL, Jariwala LK, Hoyme HE, et al. Sudden death in Williams syndrome: report of ten cases. J Pediatr 1996;129(6):926-31.
19. Black JA, Carter RE. Association between aortic stenosis and facies of severe infantile hypercalcaemia. Lancet 1963;2:745-9.
20. Jones KL. Williams syndrome: an historical perspective of its evolution, natural history, and etiology. Am J Med Genet Suppl 1990;6:89-96.
21. Sanchez Cascos A. Genetica cardiovascular. Madrid: Jarpyo Editores; 1985. p. 111-2.
22. Doty DB, Polansky DB, Jenson CB. Supravalvular aortic stenosis. Repair by extended aortoplasty. J Thorac Cardiovasc Surg 1977;74(3):362-71.
23. Friedman WF, Roberts WC. Vitamin D and the supravalvar aortic stenosis syndrome. The transplacental effects of vitamin D on the aorta of the rabbit. Circulation 1966;34(1):77-86.
24. Hallidie-Smith KA, Karas S. Cardiac anomalies in Williams-Beuren syndrome. Arch Dis Child 1988;63(7):809-13.
25. Conway EE Jr, Noonan J, Marion RW, Steeg CN. Myocardial infarction leading to sudden death in the Williams syndrome: report of three cases. J Pediatr 1990;117(4):593-5.
26. Nakanishi T, Iwasaki Y, Momma K, Imai Y. Supravalvular aortic stenosis, pulmonary artery stenosis, and coronary artery stenosis in twins. Pediatr Cardiol 1996;17(2):125-8.
27. Espino-Vela J. Estenosis supravalvular aortica. In: Cardiologia pediatrica. 3rd ed. Mexico City: Francisco Mendez Oteo; 1994. p. 284-5, 610.
28. Kitchiner D, Jackson M, Walsh K, Peart I, Arnold R. Prognosis of supravalve aortic stenosis in 81 patients in Liverpool (1960-1993). Heart 1996;75(4):396-402.
29. Arrington C, Tristani-Firouzi M, Puchalski M. Rapid progression of long-segment coarctation in a patient with Williams' syndrome. Cardiol Young 2005;15(3):312-4.
30. Ingelfinger JR, Newburger JW. Spectrum of renal anomalies in patients with Williams syndrome. J Pediatr 1991;119(5):771-3.
31. Kaplan P, Levinson M, Kaplan BS. Cerebral artery stenoses in Williams syndrome cause strokes in childhood. J Pediatr 1995;126(6):943-5.
32. Maisuls H, Alday LE, Thuer O. Cardiovascular findings in the Williams-Beuren syndrome. Am Heart J 1987;114(4 Pt 1):897-9.
33. Ottesen OE, Antia AU, Rowe RD. Peripheral vascular anomalies associated with the supravalvular aortic stenosis syndrome. Radiology 1966;86(3):430-5.
34. Pernot C, Worms AM, Marcon F, Admant P. Williams-Beuren facies with mental retardation and tetralogy of Fallot [in French]. Pediatrie 1984;39(1):53-8.
35. Soper R, Chaloupka JC, Fayad PB, Greally JM, Shaywitz BA, Awad IA, Pober BR. Ischemic stroke and intracranial multifocal cerebral arteriopathy in Williams syndrome. J Pediatr 1995;126(6):945-8.
36. Char F. Williams facies with portal vein aplasia and mental retardation. Birth Defects 1972;8:262-3.
37. Harris LC, Nghiem QX. Idiopathic hypercalcemia of infancy with interruption of the aortic arch. J Pediatr 1968;73(1):84-8.
38. Levy EP. Infantile hypercalcemia facies and mental retardation associated with atrial septal defect and anomalous pulmonary venous return. Birth Defects 1972;8:73-4.
39. Becker AE, Becker MJ, Edwards JE. Mitral valvular abnormalities associated with supravalvular aortic stenosis. Observations in 3 cases. Am J Cardiol 1972;29(1):90-4.
40. Bzduch V, Masura J. Supravalvar aortic stenosis - a constant feature of Williams-Beuren syndrome. Pediatr Cardiol 1993;14(1):66.
41. Narin N, Ozyurek R, Bakiler AR, Parlar A, Arcasoy M, Koprubasi F. Williams syndrome and subaortic stenosis. Clin Genet 1993;44(4):223.
42. Kim YM, Yoo SJ, Choi JY, Kim SH, Bae EJ, Lee YT. Natural course of supravalvar aortic stenosis and peripheral pulmonary arterial stenosis in Williams' syndrome. Cardiol Young 1999;9(1):37-41.
43. van Son JA, Edwards WD, Danielson GK. Pathology of coronary arteries, myocardium, and great arteries in supravalvular aortic stenosis. Report of five cases with implications for surgical treatment. J Thorac Cardiovasc Surg 1994;108(1):21-8.
44. Zalzstein E, Moes CA, Musewe NN, Freedom RM. Spectrum of cardiovascular anomalies in Williams-Beuren syndrome. Pediatr Cardiol 1991;12(4):219-23.
45. Actis Dato GM, La Torre M, Caimmi P, Actis Dato A Jr, Centofanti P, Ottino GM, Di Summa M. Williams-Beuren syndrome. Long-term results of surgical treatments in six patients. J Cardiovasc Surg (Torino) 1997;38(2):125-9.
46. Eronen M, Peippo M, Hiippala A, Raatikka M, Arvio M, Johansson R, Kahkonen M. Cardiovascular manifestations in 75 patients with Williams syndrome. J Med Genet 2002;39(8):554-8.
47. Wessel A, Pankau R, Kececioglu D, Ruschewski W, Bursch JH. Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome. Am J Med Genet 1994;52(3):297-301.
48. van Pelt NC, Wilson NJ, Lear G. Severe coronary artery disease in the absence of supravalvular stenosis in a patient with Williams syndrome. Pediatr Cardiol 2005;26(5):665-7.
49. Bruno E, Rossi N, Thuer O, Cordoba R, Alday LE. Cardiovascular findings, and clinical course, in patients with Williams syndrome. Cardiol Young 2003;13(6):532-6.
50. Devore LJ. Probabilidad y estadística para ingenieria y ciencias. 4th ed. Mexico: International Thomson Editores, ITP; 1998. p. 362-3.
51. Committee on Genetics. American Academy of Pediatrics: Health care supervision for children with Williams syndrome [published erratum appears in Pediatrics 109(2):329]. Pediatrics 2001;107(5):1192-204.
52. Espinoza RG, Corona E, Espino JV. Estenosis aortica supravalvular. Acta Pediatrica de Mexico 1984;5:3-11.