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Familial isolated restrictive cardiomyopathy

Disease definition

A rare genetic cardiac disease characterized by restrictive ventricular filling due to high ventricular stiffness that results in severe diastolic dysfunction in the absence of dilated or hypertrophied ventricles.


Classification level: Disorder
  • Synonym(s):
    • Familial or idiopathic restrictive cardiomyopathy
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Not applicable or Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: I42.5
  • ICD-11: BC43.2Y
  • OMIM: 115210  609578  612422  615248  617047  619433
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Genetic Testing

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
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