Abstract

Objective: The Williams-Beuren Syndrome is a rare genetic disorder. Congenital heart disease is common in these patients and the most important cause of mortality and morbidity. The cardiovascular findings and clinical follow-up of patients with Williams sydrome were evaluated in this study.

Material and Methods: Between January 2011 and November 2017, 12 subjects with the Williams-Beuren syndrome admitted to our Department of Pediatric Cardiology were evaluated.

Results: Congenital heart diseases were presented in 83% of the patients. The most common cardiac anomaly was pulmonary stenosis. There was pulmonary stenosis in 60% of our patients, aortic stenosis in 50%, ventricular septal defect in 30%, and atrial septal defect in 20%. There was hypertrophic cardiomyopathy in one case, aortic coarctation in one case and mitral valve prolapse in one case. As regards an additional abnormality, there was hypothyroidism in 50%, idiopathic hypercalcemia in 50%, nephrolithiasis in 16%, and hernias in 34% of the patients with Williams-Beuren syndrome.

Conclusion: Congenital heart diseases are common in patients with the Williams-Beuren syndrome. Even when there are no clinical signs and symptoms, cardiac evaluation of patients with the Williams-Beuren syndrome provides an early diagnosis and prevents the development of irreversible complications that may occur in the future. These patients should be monitored at regular intervals in terms of the associated multisystem disorders.

Keywords: Çocuk, Doğumsal kalp hastalığı

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Copyright and license

Copyright © 2020 The Author(s). This is an open access article distributed under the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.

How to cite

1.
Gürses D. Clinical and Echocardiographic Evaluation of Children with Williams-Beuren Syndrome. Turk J Pediatr Dis [Internet]. 2020 Mar. 18 [cited 2025 Aug. 23];14(2):124-8. Available from: https://turkjpediatrdis.org/article/view/702