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Start free with EleplanFamilial isolated restrictive cardiomyopathy
ORPHA:75249Disease
Also called Familial or idiopathic restrictive cardiomyopathy
What it is
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.
Key facts
- Age of onset
- All ages
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Classified as
- Disease
Signs and symptoms
Common30–79%
4Sometimes5–29%
12- Atrial fibrillation
- Dyspnea
- Hepatomegaly
- Hypertrophic cardiomyopathy
- Mitral regurgitation
- Orthopnea
- Peripheral edema
- Postnatal growth retardation
and 4 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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