Rare diseases · Sign or symptom

Hypoplastic left ventricle

Underdeveloped left heart

HP:0004383

What it means

A severe congenital heart defect characterized by underdevelopment of the left ventricle.

This feature most often occurs as part of the Hypoplastic left heart syndrome (HLHS), which may comprise additional malfmorations atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta. If present, the additional features should be coded with the corresponding HPO terms.

Rare diseases that can present with this32

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: Heart left ventricle hypoplasia · Left ventricular hypoplasia

Hypoplastic left ventricle

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This 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.