Orphanet: Endocardial fibroelastosis
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Endocardial fibroelastosis

Disease definition

Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia.

ORPHA:2022

Classification level: Disorder
  • Synonym(s):
    • Endomyocardial fibroelastosis
  • Prevalence: Unknown
  • Inheritance: Unknown 
  • Age of onset: Neonatal
  • ICD-10: I42.4
  • ICD-11: BC43.3
  • OMIM: 226000
  • UMLS: C0014117
  • MeSH: -
  • GARD: 2121  6336
  • MedDRA: 10014663

  A summary on this disease is available in Deutsch (2006) Español (2006) Français (2006) Italiano (2006) Nederlands (2006)

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Further information on this disease

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.