This case highlights that sporadic supravalvular aortic stenosis can occur in isolation without William's syndrome, emphasizing the importance of clinical and echocardiographic recognition.
Isolated supravalvar aortic stenosis merits consideration in young heart failure; leaves open the full spectrum of non-syndromic etiologies.
Supravalvular aortic stenosis, characterized by narrowing of the ascending aorta above the valve, is the least common form of left ventricular outflow tract obstruction and is usually associated with William's syndrome. We present a case of a 27-year-old male with isolated supravalvar aortic stenosis (SVAS) presenting with heart failure. This case underscores the fact that in rare cases sporadic SVAS can occur in isolation without the classic findings of William's syndrome and highlighting the importance of integration of clinical and echocardiographic recognition for definitive management.
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Cuenza et al. (2015) studied this question.
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