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Isolated obstruction of the right ventricular infundibulum in a patient with Williams' syndrome

Published online by Cambridge University Press:  22 December 2006

Victor E. Grech ,
Robert Xuereb  and
Joseph V. DeGiovanni
Victor E. Grech
Affiliation:
Department of Paediatrics, St. Luke's Hospital, Guardamangia, Malta
Robert Xuereb
Affiliation:
Department of Cardiology, St. Luke's Hospital, Guardamangia, Malta
Joseph V. DeGiovanni
Affiliation:
Department of Cardiology, Birmingham Children's Hospital, Birmingham, United Kingdom
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Abstract

Williams' syndrome is a rare condition that is associated with severe cardiovascular manifestations. We report a patient with Williams' syndrome who also has isolated obstruction of the right ventricular infundibulum, an association that, to the best of our knowledge, has not been previously reported.

Keywords

Heart defectscongenitalright ventricular outflow obstruction
Type
Brief Report
Information
Cardiology in the Young , Volume 17 , Issue 1 , February 2007 , pp. 105 - 106
Copyright
2007 Cambridge University Press

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References

Grimm T, Wesselhoeft H. The genetic aspects of Williams-Beuren syndrome and the isolated form of the supravalvular aortic stenosis. Investigation of 128 families. Z Kardiol 1980; 69: 168–172.Google Scholar
Bruno E, Rossi N, Thuer O, Cordoba R, Alday LE. Cardiovascular findings, and clinical course, in patients with Williams syndrome. Cardiol Young 2003; 13: 532–536.Google Scholar
Narin N, Ozyurek R, Bakiler AR, Parlar A, Arcasoy M, Koprubasi F. Williams syndrome and subaortic stenosis. Clin Genet 1993; 44: 223.Google Scholar
Hallidie-Smith KA, Karas S. Cardiac anomalies in Williams-Beuren syndrome. Arch Dis Child 1988; 63: 809–813.Google Scholar
Cortada X, Taysi K, Hartmann AF. Familial Williams syndrome. Clin Genet 1980; 18: 173–176.Google Scholar
Pankau R, Gosch A, Simeoni E, Wessel A. Williams-Beuren syndrome in monozygotic twins with variable expression. Am J Med Genet 1993; 47: 475–477.Google Scholar
Pober BR, Lacro RV, Rice C, Mandell V, Teele RL. Renal findings in 40 individuals with Williams syndrome. Am J Med Genet 1993; 46: 271–274.Google Scholar
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: 297–301.Google Scholar
Kaplan P, Levinson M, Kaplan BS. Cerebral artery stenoses in Williams syndrome cause strokes in childhood. J Pediatr 1995; 126: 943–945.Google Scholar