Eshanika Manchanda - Department of Neonatology
Williams syndrome (WS) is a rare multisystem genetic condition that is characterized by unique physical features, cognitive and developmental delays, poor growth, and cardiovascular abnormalities. A significant medical problem that can occur in this condition is cardiovascular disease consisting of mainly aortic stenosis and peripheral pulmonary stenosis with possible associated hypercalcemia and other ion disruptions. Another complication involves the hardening of the heart’s own blood suppliers, the coronary arteries, which are stenotic in ~25% of patients with WS. This hardening of arteries may lead to myocardial ischemia - a lack of oxygenated blood supply to the heart. These patients also face a greater risk of sudden cardiac death, especially when under anesthesia. To detect heart problems like coronary artery stenosis (CAS) and monitor heart health, medical facilities often use noninvasive techniques like Electrocardiograms (EKG/ECG), especially in WS patients who are at risk for anesthesia-related complications. However, in cases involving coronary artery stenosis in patients with WS, this study concluded that these patients do not exhibit the typical ECG indicators of myocardial ischemia, meaning ECGs can’t be reliably used to detect CAS.
While ongoing research studies are attempting to find new noninvasive screening tools to properly observe coronary artery stenosis in Williams syndrome, management of this condition is important to decrease the risk of life-threatening complications. In terms of properly managing cardiovascular issues, there is an effort to obtain anesthesia consultations, survey serum calcium levels, conduct cardiology evaluations, and check blood pressure before sedation and surgical procedures. Despite these efforts, the need remains for a noninvasive screening tool to prevent the risk of missing an underlying heart problem in people with Williams Syndrome.
References:
Borregaard B, Bruvik SM, Dahl J, et al. Psychometric Properties of the Kansas City Cardiomyopathy Questionnaire in a Surgical Population of Patients With Aortic Valve Stenosis. Am J Cardiol. 2023;209:165-172. doi:10.1016/j.amjcard.2023.09.068
Morris CA. Williams Syndrome. 1999 Apr 9 [Updated 2023 Apr 13]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1249/#
Edited By: Firas Batrash, Editor-in-Chief
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