/familial thoracic aortic aneurysm and aortic dissection

familial thoracic aortic aneurysm and aortic dissection

Rare Disease

MONDO:0019625

Also Known As

Erdheim diseaseFTAADfamilial TAADfamilial aortic dissectionfamilial non-syndromic TAADfamilial thoracic aortic aneurysm and aortic dissectionnonsyndromic HTADnonsyndromic familial thoracic aortic aneurysm and dissectionnonsyndromic heritable thoracic aortic diseasens-FTAADnsHTAD

Definition

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.