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HEC syndrome

Disease definition

A rare syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evience of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia is reported. There have been no further descriptions in the literature since 1995.

ORPHA:2119

Classification level: Disorder
  • Synonym(s):
    • Hydrocephalus-endocardial fibroelastosis-cataract syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 600559
  • UMLS: C1833607
  • MeSH: -
  • GARD: 2620
  • MedDRA: -
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