Living with Partial atrioventricular canal
A heart difference present from birth, with an opening between the upper heart chambers and a cleft in a heart valve.
Understanding Partial atrioventricular canal
There is an opening between the upper chambers of the heart (ostium primum defect) and a cleft in a heart valve on the left side. Blood flows between the chambers only at the upper level. GARD lists the onset as any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Heart murmur
- Shortness of breath with exertion
- Tiredness with exercise
- Leaking heart valve (mitral regurgitation)
- Pounding heartbeat (palpitations)
- Frequent respiratory infections
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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
Changes in the genes (also called variants) cause this condition. GARD doesn't list a specific gene.
Also known as: incomplete atrioventricular septal defect; incomplete avsd; partial atrioventricular canal defect; partial atrioventricular septal defect; partial atrioventricular septal defects; partial avc defect
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 Partial atrioventricular canal.
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