Living with Familial thoracic aortic aneurysm and aortic dissection
An inherited condition in which the large artery leaving the heart (aorta) can stretch, bulge or tear.
Understanding Familial thoracic aortic aneurysm and aortic dissection
The aorta can stretch (dilatation), form a bulge (aneurysm), or tear between its layers (dissection). When and whether this occurs varies, even within a family, from childhood to late in life. Aneurysms usually cause no symptoms, but depending on size and location may cause pain, hoarseness, or breathing problems. A dissection usually causes sudden severe chest or back pain.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Chest pain
- Enlarged aorta or aortic tear
- Leaking aortic valve (aortic regurgitation)
- Enlarged heart (cardiomegaly)
- Breathlessness with activity
- High blood pressure
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 autoimmune and inflammatory disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
The Marfan Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: The Marfan Foundation
- 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 The Marfan Foundation and other patient organizations
- 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 genes cause it. It is autosomal dominant, which means one changed copy of a gene is enough. GARD doesn't name a gene.
Also known as: erdheim disease; familial aortic dissection; familial non-syndromic taad; familial non-syndromic thoracic aortic aneurysm and aortic dissection; familial taad; familial taad (thoracic aortic aneurysm aortic dissection)
Patient organizations
- The Marfan FoundationFamilial thoracic aortic aneurysm and aortic dissection · United States
- The John Ritter Foundation for Aortic HealthFamilial thoracic aortic aneurysm and aortic dissection · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial thoracic aortic aneurysm and aortic dissection.
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