Living with Atrial septal defect 7
An extremely rare inherited heart condition with a hole between the upper chambers and electrical rhythm differences.
Understanding Atrial septal defect 7
The hole is most often the ostium secundum type. It comes with conduction problems like atrioventricular block, atrial fibrillation, or right bundle branch block.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hole in the wall between the upper heart chambers
- Heart rhythm problems (arrhythmia)
- Bundle branch block (delayed electrical signals)
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 NKX2-5 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 NKX2-5 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 with or without atrioventricular conduction defects; atrial heart septal defect caused by mutation in nkx2-5; atrial heart septal defect type 7; atrial septal defect 7 with atrioventricular conduction defects; atrial septal defect 7 without atrioventricular conduction defects; atrial septal defect 7, with or without av conduction defects
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 7.
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