Echocardiographic findings in patients with Williams-Beuren syndrome

Wiener Klinische Wochenschrift

Volumn 118, Issue 17-18, 2006, Pages 538-542

  Scheiber, Dora ^a   Fekete, Gyorgy ^a   Urban, Zoltan ^b   Tarjan, Ildiko ^a   Balaton, Gergely ^a   Kosa, Lajos ^c   Nagy, Katalin ^c   Vajo, Zoltan ^c  

^a SEMMELWEIS UNIVERSITY OF MEDICINE   (Hungary)

^b UNIVERSITY OF HAWAII   (United States)

^c Svabhegy Children's Hospital   (Hungary)

Author keywords

Cardiology; Clinical diagnosis; Pediatric; Williams Beuren syndrome

Indexed keywords

ADOLESCENT; ADULT; AORTA SUPRAVALVULAR STENOSIS; ARTICLE; CARDIOVASCULAR DISEASE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE COURSE; ECHOCARDIOGRAPHY; FEMALE; HUMAN; MALE; MITRAL VALVE DISEASE; PULMONARY ARTERY STENOSIS; WILLIAMS BEUREN SYNDROME;

ADOLESCENT; ADULT; AGE FACTORS; AORTIC COARCTATION; CHILD; CHILD, PRESCHOOL; CONSTRICTION, PATHOLOGIC; DISEASE PROGRESSION; ECHOCARDIOGRAPHY; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MITRAL VALVE INSUFFICIENCY; MITRAL VALVE PROLAPSE; PULMONARY ARTERY; REMISSION, SPONTANEOUS; TIME FACTORS; WILLIAMS SYNDROME;

EID: 33750061304     PISSN: 00435325     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00508-006-0658-2     Document Type: Article

References (28)

1. Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P, et al (1993) Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nature Genet 5: 11-16
2. Hockenhull EL, Carette MJ, Metcalfe K, Donnai D, Read AP, Tassabehji M (1999) A complete physical contig and partial transcript map of the Williams syndrome critical region. Genomics 58 (2): 138-145
3. Urban Z, Helms C, Fekete G, Csiszar K, Bonnet D, Munnich A, et al (1996) 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. Am J Hum Genet 59 (4): 958-962
4. Dutly F, Schinzel A (1996) Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome. Hum Mol Genet 5 (12): 1893-1898
5. Sadler LS, Robinson LK, Verdaasdonk KR, Gingell R (1993) The Williams syndrome: evidence for possible autosomal dominant inheritance. Am J Med Genet 47: 468-470
6. Morris CA, Thomas IT, Greenberg F (1993) Williams syndrome: autosomal dominant inheritance. Am J Med Genet 47: 478-481
7. Ounap K, Laidre P, Bartsch O, Rein R, Lipping-Sitska M (1998) Familial Williams-Beuren syndrome. Am J Med Genet 80: 491-493
8. Greenberg F (1990) Williams syndrome professional symposium (suppl.). Am J Med Genet 6: 85-88
9. Williams JC, Barratt-Boyes BG, Lowe JB (1961) Supravalvular aortic stenosis. Circulation 24: 1311-1318
10. Beuren AJ, Apitz J, Harmjanz D (1962) Supravalvular aortic stenosis in association with mental retardation and certain facial appearance. Circulation 26: 1235-1240
11. Morris CA (1998) Genetic aspects of supravalvular aortic stenosis. Curr Opin Cardiol 13 (3): 214-219
12. Tarjan I, Balaton G, Balaton P, Vajo Z (2005) The role of dental evaluation and cephalometric analysis in the diagnosis of Williams-Beuren syndrome. Wien Klin Wochenschr 117 (5-6): 226-228
13. Brewer CM, Morrison N, Tolmie JL (1996) Clinical and molecular cytogenetic (FISH) diagnosis of Williams syndrome. Arch Dis Child 74 (1): 59-61
14. Tarjan I, Balaton G, Balaton P, Varbiro S, Vajo Z (2003) Facial and dental appearance of Williams syndrome. Postgrad Med J 79 (930): 241
15. Lopez-Rangel E, Maurice M, McGillivray B, Friedman JM (1992) Williams syndrome in adults. Am J Med Genet 44: 720-729
16. Wessel A, Pankau R, Kececioglu D, Ruschewski W, Bursch JH (1994) Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome. Am J Med Genet 52 (3): 297-301
17. Madisen L, Hoar DI, Holroyd CD, Crisp M, Hodes ME (1987) DNA banking: the effects of storage of blood and isolated DNA on the integrity of DNA. Am J Med Genet 27 (2): 379-390
18. Kaplan P, Levinson M, Kaplan BS (1995) Cerebral artery stenoses in Williams syndrome cause strokes in childhood. J Pediatr 126: 943-945
19. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380: 152-154
20. Foster K, Ferrell R, King-Underwood L, Povey S, Attwood J, Rennick R, Humphries SE, Henney AM (1993) Description of a dinucleotide repeat polymorphism in the human elastin gene and its use to confirm assignment of the gene to chromosome 7. Ann Hum Genet 57 (Pt 2): 87-96
21. Gilbert-Dussardier B, Bonneau D, Gigarel N, Le Merrer M, Bonnet D, Philip N, et al (1995) A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome. Am J Hum Genet 56: 542-544
22. Giddins NG, Finley J, Nanton MA, Roy DL (1989) The natural course of supravalvular aortic stenosis and peripheral pulmonary stenosis in Williams-Beuren's syndrome. Br Heart J 62: 315-319
23. Hallidie-Smith KA, Karas S (1988) Cardiac anomalies in Williams-Beuren syndrome. Arch Dis Child 63 (7): 809-813
24. Kim YM, Yoo SJ, Choi JY, Kim SH, Bae EJ, Lee YT (1999) Natural course of supravalvular aortic stenosis and peripheral pulmonary arterial stenosis in Williams-Beuren syndrome. Cardiol Young 9: 37-41
25. Wessel A, Gravenhorst V, Buchhorn R, Gosch A, Partsch CJ, Pankau R (2004) Risk of sudden death in the Williams-Beuren syndrome. Am J Med Genet A 127 (3): 234-237
26. Rose C, Wessel A, Pankau R, Partsch CJ, Bursch J (2001) Anomalies of the abdominal aorta in Williams-Beuren syndrome - another cause of arterial hypertension. Eur J Pediatr 160 (11): 655-658
27. Wessel A, Motz R, Pankau R, Bursch JH (1997) Arterial hypertension and blood pressure profile in patients with Williams-Beuren syndrome. Z Kardiol 86 (4): 251-257
28. Sadler LS, Pober BR, Grandinetti A, Scheiber D, Fekete G, Sharma AN, Urban Z (2001) Differences by sex in cardiovascular disease in Williams syndrome. J Pediatr 139 (6): 849-853