Orphanet: Congenital aortic valve stenosis
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Congenital aortic valve stenosis

Disease definition

A rare aortic malformation of variable severity and clinical presentation. Clinical presentations range from a neonatal severe presentation often associated with sudden cardiac death, to a slowly progressive stenosis that presents later with cardiac murmur, chest pain, dizziness, and loss of consciousness with exercise-induced exacerbations. Echocardiography reveals atresia or dysplasia of the aortic valve most commonly associated with a bicuspid morphology, restricted left ventricular outflow, and left ventricular hypertrophy.

ORPHA:3093

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: Q23.0
  • OMIM: -
  • UMLS: C0152417
  • MeSH: -
  • GARD: -
  • MedDRA: 10010371

Detailed information

Professionals

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