hypoplastic left heart syndrome
Findings
No curated finding names hypoplastic left heart syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis.
Definition from the Mondo Disease Ontology (MONDO:0004933), read 2026-09-29. CC BY 4.0.
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Hypoplastic left ventricleHPOHP:0004383
- Very frequent (80% to 99% of cases)
- Hypoplastic aortic archHPOHP:0012304
- Frequent (30% to 79% of cases)
- Abnormality of chromosome segregationHPOHP:0002916
- Occasional (5% to 29% of cases)
- Atrial septal defectHPOHP:0001631
- Occasional (5% to 29% of cases)
- Mitral atresiaHPOHP:0011560
- Occasional (5% to 29% of cases)
- Mitral stenosisHPOHP:0001718
- Occasional (5% to 29% of cases)
- Patent ductus arteriosusHPOHP:0001643
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DENND5BHGNC:28338
- Limited · Ambry Genetics · Autosomal dominant · 2024
Where it sits
Other names
1 name
Resolves to: hypoplastic left heart syndrome
- Also called
- HLHS