Imaging of Heritable Thoracic Aortic Disease.

Felipe Sanchez Tijmes, Gauri Rani Karur

Journal: Seminars in roentgenology 2022;57(4):364-379

PMID: 36265988

Full Text on Elsevier Science View on PubMed

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.

Address: Department of Medical Imaging, Peter Munk Cardiac Centre, Toronto General Hospital, University Health Network, University of Toronto, 585 University Avenue, 1 PMB-298, Toronto, Ontario, Canada; Department of Medical Imaging, Clinica Santa Maria, Universidad de los Andes, Avenida Santa Maria 500, Santiago, Ontario, Chile. Electronic address: [email protected].; Department of Medical Imaging, Peter Munk Cardiac Centre, Toronto General Hospital, University Health Network, University of Toronto, 585 University Avenue, 1 PMB-298, Toronto, Ontario, Canada. Electronic address: [email protected].

DOI: 10.1053/j.ro.2022.07.004

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MeSH Terms: Humans, Aortic Dissection, Aortic Aneurysm, Thoracic, Mutation, Aortic Diseases, Diagnostic Imaging