Supravalvular aortic stenosis (SVAS) is a rare condition characterized by narrowing of the ascending aorta above its origin. When associated with other arterial stenoses, a connective tissue disorder is implied. Accompanied by a distinctive phenotype consisting of mental retardation, behavioural traits ("cocktail" personality) and an elfin facies, is pathognomonic for the diagnosis of Williams-Beuren syndrome (WBS).
We present a case of WBS who in addition to SVAS, developed renovascular hypertension secondary to bilateral renal artery stenosis.
This 17 year old patient has mild mental retardation, and underwent repair of SVAS at the age of 3. Hypertension was first diagnosed at age 13. Evaluation showed narrowing of bilateral renal arteries. Blood pressure was controlled with Angiotensin Converting Enzyme Inhibitors (ACE-I) and Calcium Channel Blockers (CCB).
Upon current addmition, at the age of 17, physical examination was evident for typical facial dysmorphism. Magnetic resonance angiography (MRA) revealed stenosis of the left aortic arch, descending aorta, both pulmonary arteries and critical stenosis of both renal arteries. The patient underwent percutaneous angiography of the renal arteries (PTRA) with dilatation and stent insertion. Currently, blood pressure is within normal limits on no medications.
WBS, a rare genetic syndrome, has a wide phenotypic spectrum. It is a multisystem condition consisting of connective tissue abnormalities, multiple vascular anomalies and a characteristic neurodevelopmental and behavioural profile. The combination of an elfin facies, mental retardation and multiple arterial stenoses, in particular SVAS, should alert the physician to its diagnosis.
