Rare diseases · Sign or symptom
Right ventricular dilatation
HP:0005133
What it means
Enlargement of the chamber of the right ventricle, which can be defined echocardiographically as a right ventricular to left ventricular ratio greater than 1:1.
Ventricular dilatation is to be distinguished from ventricular aneurysm, which refers to a diastolic as well as systolic outpouching of the ventricle containing endocardium, epicardium, and thin-wall non-contractile scarred myocardium, which mainly develop in the setting of a full-thickness infarct, replaced by fibrous tissue because of myocardial infarction.
Rare diseases that can present with this11
Sometimes5–29%
10- ALG9-CDG
- Atrial septal defect, coronary sinus type
- Atrial septal defect, ostium secundum type
- Atrial septal defect, sinus venosus type
- Chronic thromboembolic pulmonary hypertension
- Coronary arterial fistula
- Idiopathic/heritable pulmonary arterial hypertension
- Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
and 2 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 1 disease 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
Also called: Dilated heart right ventricle
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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.