Living with Atrial septal defect, ostium primum type
A rare heart condition with a hole in the wall between the upper heart chambers, present from birth.
Understanding Atrial septal defect, ostium primum type
The hole is only at the atrial level. It is present from before birth and noticed in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Shortness of breath with activity
- Tiredness
- Heart murmur
- Palpitations (heart pounding or fluttering)
- Frequent respiratory infections
- Leaky heart valves (mitral or tricuspid regurgitation)
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 TLL1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
GARD says changes in the TLL1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: asd ostium primum type; asd, ostium primum type; atrial septal defect ostium primum; atrioventricular defect with atrial shunting only; incomplete atrioventricular canal defect with isolated atrial component; incomplete atrioventricular septal defect with isolated atrial component
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Atrial septal defect, ostium primum type.
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