persistent truncus arteriosus
Findings
No curated finding names persistent truncus arteriosus yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death.
Definition from the Mondo Disease Ontology (MONDO:0018072), read 2026-09-29. CC BY 4.0.
Features
36 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.
- Truncus arteriosusHPO · MondoHP:0001660
- Obligate (100% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Very frequent (80% to 99% of cases)
- Abnormal heart valve morphologyHPOHP:0001654
- Very frequent (80% to 99% of cases)
- Abnormal heart valve physiologyHPOHP:0031653
- Very frequent (80% to 99% of cases)
- CyanosisHPOHP:0000961
- Very frequent (80% to 99% of cases)
- TachycardiaHPOHP:0001649
- Very frequent (80% to 99% of cases)
Show the remaining 24
- TachypneaHPOHP:0002789
- Frequent (30% to 79% of cases)
- Ventricular septal defectHPOHP:0001629
- Frequent (30% to 79% of cases)
- Aberrant right subclavian arteryHPOHP:0031632
- Occasional (5% to 29% of cases)
- Abnormal coronary artery morphologyHPOHP:0006704
- Occasional (5% to 29% of cases)
- Abnormal facial shapeHPOHP:0001999
- Occasional (5% to 29% of cases)
- Abnormal lung lobationHPOHP:0002101
- 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.
- PLXND1HGNC:9107
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: persistent truncus arteriosus
- Also called
- common aorticopulmonary trunkcommon arterial trunkcommon truncus arteriosuspersistent truncus arteriosus (disease)TACTruncus Arteriosus