Abstract:

Williams-Beuren syndrome is a rare genetic disease. In these patients, infarctional heart disease is common and causes significant mortality and morbidity in the syndrome. In our study, we evaluated the cardiovascular findings and clinical observations of our patients followed by the diagnosis of Williams syndrome.  Tools and Methods: A total of 12 incidents diagnosed with Williams syndrome were assessed by the Children’s Cardiology Department between January 2011 and November 2017.  Results: 83% of patients had congenital heart disease. The most common cardiac anomaly was pulmonary stenosis. In 60% of patients, pulmonary stenosis, in 50% aortal stenosis, in 30% ventricular septal defect and in 20% atrial septal defect were detected. In one case there was hypertrophic cardiomyopathy, aortal coarctation and mitral cover prolapsus. With regard to the accompanying additional anomalies, 50 percent of patients were diagnosed with hypothyroidism, 50 percent with idiopathic hypercalcemia, 16 percent with nefrolithiasis, and 34 percent with herni.  The result: Parental heart disease is common in patients with Williams syndrome. Although there are no clinical signs and findings, cardiovascular assessment of these children will provide early diagnosis and prevent the development of irreversible complications that may occur in the future. These patients should be monitored at certain intervals in terms of multiple systemic disorders that may be accompanied.

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