Living with Persistent truncus arteriosus
A heart condition present from birth in which one large blood vessel leaves the heart instead of two.
Understanding Persistent truncus arteriosus
In a typical heart, two vessels carry blood out. Here, one trunk leaves through a single valve, and the lung arteries branch from it. A hole between the lower heart chambers (ventricular septal defect) is also usually present. It is noticed in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Single large artery leaving the heart
- Hole between the lower heart chambers
- Bluish skin color (cyanosis)
- Fast breathing
- Fast heart rate
- Enlarged heart
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in PLXND1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Adult Congenital Heart Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: Adult Congenital Heart Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Adult Congenital Heart Association
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the PLXND1 gene cause this condition. GARD doesn't list an inheritance pattern.
Also known as: common aorticopulmonary trunk; common aortopulmonary trunk; common arterial trunk; common arterial trunk (truncus arteriosus); common truncus arteriosus; persistent truncus arteriosus (disease)
Patient organizations
- Adult Congenital Heart AssociationPersistent truncus arteriosus · United States
You are more than your diagnosis
Perspectives from people navigating life with Persistent truncus arteriosus.
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