Rare diseases · Sign or symptom
Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle
HP:0001639
What it means
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed 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 this87
Very common80–99%
14- Cardiomyopathy-cataract-hip spine disease syndrome
- Cardiomyopathy-hypotonia-lactic acidosis syndrome
- Combined oxidative phosphorylation defect type 23
- Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
- Danon disease
- Glycogen storage disease due to acid maltase deficiency, infantile onset
- HSD10 disease, neonatal type
- Infantile spasms-broad thumbs syndrome
- Isolated complex I deficiency
- Mitochondrial DNA-related cardiomyopathy and hearing loss
- Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
- Neurofibromatosis-Noonan syndrome
- Noonan syndrome with multiple lentigines
- Pituitary gigantism
Common30–79%
19- Acyl-CoA dehydrogenase 9 deficiency
- AL amyloidosis
- Alpha-N-acetylgalactosaminidase deficiency type 3
- ATTRV122I amyloidosis
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- Costello syndrome
- Donohue syndrome
- Eosinophilic granulomatosis with polyangiitis
- Isolated ATP synthase deficiency
- Isolated succinate-CoQ reductase deficiency
- Leigh syndrome
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Microphthalmia with linear skin defects syndrome
- Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
- Multiple mitochondrial dysfunctions syndrome type 2
- Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
- Noonan syndrome-like disorder with loose anagen hair
- TMEM70-related mitochondrial encephalo-cardio-myopathy
- X-linked Emery-Dreifuss muscular dystrophy
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. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Cardiomyopathy, hypertrophic · HCM
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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.