Overview
Rare disease with thoracic aortic aneurysm and aortic dissection (sometimes called familial thoracic aortic aneurysm and dissection, or familial TAAD) refers to a group of inherited conditions where the large blood vessel that carries blood from the heart (the aorta) becomes weakened and stretched in the chest area. When the aorta wall weakens, it can balloon outward (aneurysm) or tear (dissection), both of which can be life-threatening emergencies. This condition is caused by genetic changes that affect the structure or function of the aortic wall. The aorta is made up of layers of tissue including smooth muscle cells and connective tissue proteins like collagen and elastin. When genes controlling these components are faulty, the aorta gradually loses its strength and elasticity. Many people with this condition have no symptoms until the aneurysm becomes large or a dissection occurs, which is why screening and early detection in at-risk families is so important. Treatment focuses on monitoring the size of the aorta with regular imaging, controlling blood pressure with medications to reduce stress on the aortic wall, and performing preventive surgery when the aorta reaches a dangerous size. Beta-blockers and angiotensin receptor blockers (such as losartan) are commonly used medications. Lifestyle modifications, including avoiding intense physical exertion and contact sports, are also recommended. With proper surveillance and timely intervention, many patients can live full and active lives.
Key symptoms:
Enlargement (aneurysm) of the aorta in the chestSudden tearing chest pain (aortic dissection)Sharp pain between the shoulder bladesHigh blood pressureHeart murmurAortic valve leaking (aortic regurgitation)Shortness of breathFainting or lightheadednessAbnormal twisting or tortuosity of blood vesselsIn some forms, mild joint flexibility or stretchy skinBrain aneurysms in certain genetic subtypesLivedo reticularis (mottled skin pattern) in some subtypesIris flocculi (eye findings) in certain subtypes
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Rare disease with thoracic aortic aneurysm and aortic dissection.
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Specialists
View all specialists →No specialists are currently listed for Rare disease with thoracic aortic aneurysm and aortic dissection.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Rare disease with thoracic aortic aneurysm and aortic dissection.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which specific gene mutation do I have, and what does that mean for my risk level?,How often should I have imaging of my aorta, and what type of imaging is best for me?,At what aortic size would you recommend preventive surgery in my case?,What medications should I take to protect my aorta, and are there any I should avoid?,What physical activities and exercises are safe for me?,Should my family members be tested, and how should we arrange that?,Are there any clinical trials or new treatments I should know about?
Common questions about Rare disease with thoracic aortic aneurysm and aortic dissection
What is Rare disease with thoracic aortic aneurysm and aortic dissection?
Rare disease with thoracic aortic aneurysm and aortic dissection (sometimes called familial thoracic aortic aneurysm and dissection, or familial TAAD) refers to a group of inherited conditions where the large blood vessel that carries blood from the heart (the aorta) becomes weakened and stretched in the chest area. When the aorta wall weakens, it can balloon outward (aneurysm) or tear (dissection), both of which can be life-threatening emergencies. This condition is caused by genetic changes that affect the structure or function of the aortic wall. The aorta is made up of layers of tissue in
How is Rare disease with thoracic aortic aneurysm and aortic dissection inherited?
Rare disease with thoracic aortic aneurysm and aortic dissection follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.