familial thoracic aortic aneurysm and aortic dissection
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.
MONDO:0017310
Marfan and Marfan-related disorder
excluded_subClassOf
MONDO:0003847
hereditary disease
is_a
MONDO:0005385
vascular disorder
is_a
Erdheim disease
exact
FTAAD
exact
familial TAAD
exact
familial aortic dissection
exact
familial non-syndromic TAAD
exact
familial thoracic aortic aneurysm and aortic dissection
exact
nonsyndromic HTAD
exact
nonsyndromic familial thoracic aortic aneurysm and dissection
exact
nonsyndromic heritable thoracic aortic disease
exact
ns-FTAAD
exact
nsHTAD
exact
SPAC4A8.05c SPCC645.05c SPBC32H8.12c