Living with Sinus venosus atrial septal defect
A rare heart condition present at birth in which there is a gap in the wall between the upper heart chambers.
Understanding Sinus venosus atrial septal defect
The defect lies in the shared wall between the superior vena cava (a large vein that brings blood to the heart) and the right-sided pulmonary veins (which carry blood from the lungs). It is usually linked to an abnormal connection of some pulmonary veins, which sends extra blood from the left side of the heart to the right. It starts during pregnancy, at birth or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Tiredness
- Shortness of breath with exercise
- Less ability to exercise
- Pounding or fluttering heartbeat (palpitations)
- Heart murmur
- Abnormal blood flow from the lungs
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 CITED2 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 lists changes in the CITED2 gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough.
Also known as: asd, sinus venosus type; atrial septal defect, sinus venosus type; sinus venosus asd; sinus venosus atrial septal defects; sinus venosus 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 Sinus venosus atrial septal defect.
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