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Ebstein malformation

Disease definition

Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction.

ORPHA:1880

  • Synonym(s):
    • Ebstein anomaly of the tricuspid valve
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: All ages
  • ICD-10: Q22.5
  • OMIM: 224700
  • UMLS: C0013481
  • MeSH: -
  • GARD: 6313
  • MedDRA: 10014075

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