Rare diseases · Sign or symptom
Dilated cardiomyopathy
Stretched and thinned heart muscle
HP:0001644
What it means
Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.
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 this62
Very common80–99%
11- Barth syndrome
- Carvajal syndrome
- Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
- Dilated cardiomyopathy with ataxia
- DK1-CDG
- Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
- Familial isolated dilated cardiomyopathy
- Heart-hand syndrome, Slovenian type
- Kidney tubulopathy-dilated cardiomyopathy syndrome
- Microcephaly-cardiomyopathy syndrome
- Sensorineural deafness with dilated cardiomyopathy
Common30–79%
14- 9q31.1q31.3microdeletion syndrome
- Acyl-CoA dehydrogenase 9 deficiency
- Alström syndrome
- Autosomal recessive Emery-Dreifuss muscular dystrophy
- DPM3-CDG
- Glycogen storage disease due to glycogen branching enzyme deficiency
- HJV or HAMP-related hemochromatosis
- Isolated ATP synthase deficiency
- Kallmann syndrome-heart disease syndrome
- Microphthalmia with linear skin defects syndrome
- Mitochondrial DNA-related cardiomyopathy and hearing loss
- Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
- Peripartum cardiomyopathy
- Progressive external ophthalmoplegia-myopathy-emaciation syndrome
Sometimes5–29%
29- 16q24.3microdeletion syndrome
- 1p36deletion syndrome
- Adult-onset nemaline myopathy
- Andersen-Tawil syndrome
- Arterial tortuosity syndrome
- Autosomal dominant Emery-Dreifuss muscular dystrophy
- Autosomal dominant progressive external ophthalmoplegia
- Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
and 21 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. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Cardiomyopathy, dilated · Congestive cardiomyopathy · DCM
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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.