Abstract
Heritable Thoracic Aortic Disease (HTAD) is caused by mutation of a gene that confers a high risk for thoracic aortic aneurysms and dissections. Syndromic HTAD are associated with systemic manifestations and include Marfan, Loeys-Dietz, vascular Ehlers Danlos and Turner Syndromes. The purpose of this review is to summarize the pathophysiology, cardiovascular imaging features and management of HTAD. Imaging plays an important role in screening for aortic dilatation and monitoring progression. Echocardiogram, Computed tomography and Magnetic resonance imaging are the commonly used modalities. Based on consensus guidelines, prophylactic aortic replacement is indicated when a certain threshold diameter is reached.
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