aortic supravalvular stenosis

Introduction

Also see aortic valvular stenosis.

Classification

• two major types:
• diaphragmatic (aortic sclerosis)
• localized narrowing immediately above aortic sinuses
  • often associated with hypoplasia of ascending aorta

Etiology

• sporadic
• autosomal dominant
• component of Williams-Beuren syndrome

Pathology

• dilated thick-walled coronary arteries
• premature atherosclerosis
• concentric hypertrophy of left ventricle may be present

Genetics

• associated with defects in elastin (autosomal dominant)

Clinical manifestations

• thrill in suprasternal notch & over carotid artery
• systolic murmur without click
• loud A2

More general terms

• vascular disease (vasculopathy)
• developmental disorder

Additional terms

• aortic valvular stenosis (AS)
• coarctation of the aorta
• Williams-Beuren syndrome; Williams syndrome

Database

• OMIM: https://mirror.omim.org/entry/185500