Familial thoracic aortic aneurysm and aortic dissection
Synonyms: Familial TAAD | Familial non-syndromic thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm dissection or dilatation affecting one or more aortic segments (aortic root ascending aorta arch or descending aorta) in the absence of any other associated disease. Depending on the size location and progression rate of dilatation/dissection patients may be asymptomatic or may present dyspnea cough jaw neck chest or back pain head neck or upper limb edema difficulty swallowing voice hoarseness pale skin faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Familial thoracic aortic aneurysm and aortic dissection?
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Advocacy Organizations
The Marfan Foundation
The Marfan Foundation is a nonprofit organization that saves lives and improves the quality of life of individuals with genetic aortic and vascular conditions including Marfan, Loeys-Dietz, and Vascular Ehlers-Danlos syndromes.
Clinical Trials
For a list of clinical trials in this disease area, please click here.