Hypercalcemia-Supravalvar Aortic Stenosis
📋Overview
Hypercalcemia-Supravalvar Aortic Stenosis is a legacy term that refers to a clinical presentation involving elevated blood calcium levels (hypercalcemia) combined with supravalvar aortic stenosis, a narrowing of the ascending aorta above the aortic valve. Supravalvar aortic stenosis is most commonly associated with Williams syndrome, a genetic disorder characterized by cardiovascular abnormalities, distinctive facial features, and developmental delays. The modern preferred terminology separates these findings: hypercalcemia is considered a metabolic abnormality, while supravalvar aortic stenosis is a congenital heart defect often seen in Williams syndrome.
Medical codes (for reference)
UMLS CUI: C0175702Codes are provided for reference and interoperability. They are not a diagnosis.
Found an Error?
Help us keep this information accurate. If you notice any incorrect details, please submit a correction request.