Rare diseases · Sign or symptom
Cardiomyopathy
Disease of the heart muscle
HP:0001638
What it means
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
In everyday care
Most people with this sign do not have a rare disease — it appears in common conditions far more often. These general reference pages cover the same topic:
Rare diseases that can present with this104
Very common80–99%
8Common30–79%
22- Acquired generalized lipodystrophy
- American trypanosomiasis
- ATTRV30M amyloidosis
- Autosomal recessive progressive external ophthalmoplegia
- Carnitine palmitoyl transferase II deficiency, neonatal form
- Friedreich ataxia
- Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
- GM1 gangliosidosis type 1
- Hardikar syndrome
- HEC syndrome
- His bundle tachycardia
- Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
- Hypocalcemic vitamin D-dependent rickets
- Koolen-De Vries syndrome
- Lethal infantile mitochondrial myopathy
- Malonic aciduria
- Mitochondrial trifunctional protein deficiency
- Neutral lipid storage disease with ichthyosis
- Neutral lipid storage disease with myopathy
- Pearson syndrome
- Primary triglyceride deposit cardiomyovasculopathy
- Yunis-Varon syndrome
Sometimes5–29%
50- 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
- 3-methylglutaconic aciduria type 4
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
- AGel amyloidosis
- ALG1-CDG
- Alpha-B crystallin-related late-onset myopathy
- Anoctamin-5-related limb-girdle muscular dystrophy R12
- Antiphospholipid syndrome
and 42 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions, and Orphanet separately records 8 diseases where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.