Familial thoracic aortic aneurysm and aortic dissection

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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 June 2024

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