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persistent truncus arteriosus (TAC) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

persistent truncus arteriosus

MONDO:0018072

Also known as:TACTruncus Arteriosuscommon aorticopulmonary trunk

Find Clinical TrialsTrials

Overview

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.

Clinical Trials4 registered · 4 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Truncus arteriosus; and very common findings: Cyanosis, Abnormal heart morphology, Tachycardia, and Abnormal heart valve (abnormal heart valve morphology) and others. 36 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	13	Abnormal heart morphology, Tachycardia, Abnormal heart valve (abnormal heart valve morphology)

Diagnosis

Biomarker and diagnostic research for persistent truncus arteriosus has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 5 very common features, 8 common features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

4 clinical trials registered, 4 recruiting. Interventions under study include other interventions, medical devices, and procedural interventions. Pipeline includes 3 NA. Research is sponsored by a mix of industry and academic institutions.

136 publications have been identified in PubMed for persistent truncus arteriosus. Research spans Case Report / Case Series (36%), Clinical Trial Publication (18%), and Basic Science / Preclinical (14%).

Research Type	Count	% of Total
Patient case studies	49

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:3384

GARD

Genetic and Rare Diseases Info Center

GARD:16627

Questions for Your Care Team

→Are any of the 4 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

persistent truncus arteriosus

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

A rare association of truncus arteriosus type II, common atrium, and severe left ventricular hypoplasia: a forensic autopsy case.

Simulations Predict Improved Valve Performance Without Direct Leaflet Intervention After Neonatal Truncus Arteriosus Repair.

persistent truncus arteriosus

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

A rare association of truncus arteriosus type II, common atrium, and severe left ventricular hypoplasia: a forensic autopsy case.

Simulations Predict Improved Valve Performance Without Direct Leaflet Intervention After Neonatal Truncus Arteriosus Repair.