Living with Aortic aneurysm, familial thoracic 4
An inherited condition in which the large blood vessel leaving the heart (the aorta) can weaken and stretch.
Understanding Aortic aneurysm, familial thoracic 4
The aorta can become weakened and stretched, which can cause a bulge (aneurysm) or a tear in the vessel wall (dissection). These changes can begin in childhood or not occur until late in life, even within one family. Aneurysms often cause no symptoms. Other arteries can be affected too.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bulge in the upper aorta (thoracic aortic aneurysm)
- Tear in the inner wall of the aorta (aortic dissection)
- Narrowing of the arteries to the brain
- Narrowing of the carotid artery in the neck
- Sudden, severe chest or back pain (with dissection)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 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
- A doctor familiar with rare conditions, plus specialists as needed
- 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
GARD says familial TAAD is inherited in an autosomal dominant way, meaning one changed copy of the gene can be enough to cause it. GARD doesn't list the specific gene in this record.
Also known as: aat4; aortic aneurysm, familial thoracic type 4; aortic aneurysm/aortic dissection and patent ductus arteriosus; familial thoracic aortic aneurysm and aortic dissection caused by mutation in myh11; myh11 familial thoracic aortic aneurysm and aortic dissection; myh11-related thoracic aortic aneurysms and aortic dissections
Patient organizations
- The Marfan FoundationAortic aneurysm, familial thoracic 4 · United States
- The John Ritter Foundation for Aortic HealthAortic aneurysm, familial thoracic 4 · United States
You are more than your diagnosis
Perspectives from people navigating life with Aortic aneurysm, familial thoracic 4.
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