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Supravalvular aortic stenosis

Disease definition

A rare aortic malformation characterized by the narrowing of the aorta lumen (close to its origin) associated or not with stenosis of other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (left ventricle in case of aorta involvement, right ventricle in case of pulmonary artery involvement).


Classification level: Disorder
  • Synonym(s):
    • SVAS
  • Prevalence: 1-5 / 10 000
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: Q25.3
  • ICD-11: LA8A.3
  • OMIM: 185500
  • UMLS: C0003499
  • MeSH: D021921
  • GARD: 743
  • MedDRA: 10042598
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