Living with Aortic arch defects
Differences in how the curved part of the main heart vessel formed before birth, sometimes pressing on the airway or food pipe.
Understanding Aortic arch defects
They happen when parts of the early blood vessel system in the embryo shrink or stay when they shouldn't. This leads to many possible differences. Some cause physical problems and some do not. Problems can include pressure on the windpipe or food pipe and unusual blood flow. GARD lists onset in childhood.
Signs & symptoms
GARD doesn't list specific symptoms for this condition, but its summary describes these possible problems:
- Pressure on the windpipe and airways (tracheobronchial compression)
- Pressure on the food pipe (esophageal compression)
- Unusual blood flow patterns
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 heart and blood vessel specialists and lung and breathing specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Heart and blood vessel specialists (cardiologists); Lung and breathing specialists (pulmonologists)
- 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 these defects result from unusual development of parts of the early (embryonic) blood vessel system. It doesn't list a gene or inheritance pattern.
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 Aortic arch defects.
Explore research for Aortic arch defects
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