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aortic supravalvular stenosis
Also see aortic valvular stenosis.
Classification:
- two major types:
1) diaphragmatic (aortic sclerosis)
2) localized narrowing immediately above aortic sinuses
- often associated with hypoplasia of ascending aorta
Etiology:
- sporadic
- autosomal dominant
- component of Williams-Beuren syndrome
Pathology:
1) dilated thick-walled coronary arteries
2) premature atherosclerosis
3) concentric hypertrophy of left ventricle may be present
Genetics:
- associated with defects in elastin [2] (autosomal dominant)
Clinical manifestations:
1) thrill in suprasternal notch & over carotid artery
2) systolic murmur without click
3) loud A2
Related
aortic valvular stenosis (AS)
coarctation of the aorta
Williams-Beuren syndrome
General
vascular disease (vasculopathy)
developmental disorder
Database Correlations
OMIM 185500
References
- Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed)
Lippincott-Raven, Philadelphia, 1998, pg 39-40
- OMIM :accession 185500