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.

Also known as: Erdheim disease, FTAAD, familial TAAD, familial aortic dissection, familial non-syndromic TAAD, familial thoracic aortic aneurysm and aortic dissection, nonsyndromic HTAD, nonsyndromic familial thoracic aortic aneurysm and dissection

12 clinical trials for this condition and its sub-types.