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Familial aortic dissection

Disease definition

Familial aortic dissection is the term used to describe rupture of the aortic wall at the level of the media, resulting in the formation of a false channel and deviation of part of the aortic flux. Familial predisposition to thoracic aortic aneurysms and type A dissections (concerning the ascending aorta and/or the aortic arch) has been demonstrated in around 19% of patients presenting with thoracic aortic dissections and several loci have been identified so far (16p12.2-p13.13, 3p24-25). This predisposition is transmitted in an autosomal dominant manner.

ORPHA:229

  • Synonym(s):
    • Annuloaortic ectasia
    • Cystic medial necrosis of aorta
    • Erdheim disease
  • Prevalence: -
  • Inheritance: -
  • Age of onset: All ages
  • ICD-10: I71.0
  • OMIM: 607086
  • UMLS: -
  • MeSH: -
  • GARD: 1654
  • MedDRA: -

Additional information

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