HEREDITARY THORACIC AORTIC DISEASE - SIGNIFICANCE OF DISEASE IDENTIFICATION

Abstract

The hereditary thoracic aortic disease (HTAD) is a group of conditions of congenital aortic chest wall weakness, associated with a predisposition to aortic dilatation, aneurysm and their acute complications - aortic dissection and rupture. Nearly 20% of all patients with TAD have a genetic predisposition and additional lifetime risk factors (e.g., arterial hypertension) provoke clinical manifestation of the disease. HTAD can be syndromic or non-syndromic; there are at least 16 genes, known to be associated with it. Identification of the familial (hereditary) form of the disease enables early detection of other family members at-risk for aortic accidents. In some families, the exact genetic defect can be identified, thus definitively confirming the diagnosis, and sought for in further relatives. Individuals at an increased risk of aortopathy are subject to regular follow-ups and timely aortic replacement before lethal acute complication occur.