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Familial 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.
ORPHA:91387
Classification level: Disorder
- Familial TAAD
- FTAAD
- Familial non-syndromic thoracic aortic aneurysm and aortic dissection
- Non-syndromic heritable thoracic aortic disease
- Hereditary thoracic aortic aneurysm and aortic dissection
- Hereditary TAAD
Source: PubMed ID 31842235
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant
Age of onset: Adolescent, Adult, Childhood
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
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