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Familial thoracic aortic aneurysm and aortic dissection
Disease definition
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- Synonym(s):
- Familial TAAD
- Familial non-syndromic thoracic aortic aneurysm and aortic dissection
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Childhood, Adolescent, Adult
- ICD-10: I71.2
- OMIM: 132900 607086 607087 609192 610168 611788 613780 614816 615436 615582 616166 617168
- UMLS: -
- MeSH: -
- GARD: 2249
- MedDRA: -
Detailed information
Article for general public
Professionals
- Emergency guidelines
- Français (2017, pdf)
- Anesthesia guidelines
- Czech (2013)
- English (2013)
- Español (2013)
- Clinical practice guidelines
- English (2019)
- Guidance for genetic testing
- English (2015)
- Clinical genetics review
- English (2017)
Additional information