RT Book, Section A1 Regalado, Ellen S. A1 Guo, Dong-Chuan A1 Milewicz, Dianna M. A2 Murray, Michael F. A2 Babyatsky, Mark W. A2 Giovanni, Monica A. A2 Alkuraya, Fowzan S. A2 Stewart, Douglas R. SR Print(0) ID 1102699585 T1 Thoracic Aortic Aneurysms and Acute Aortic Dissections T2 Clinical Genomics: Practical Applications in Adult Patient Care YR 2014 FD 2014 PB McGraw-Hill Education PP New York, NY SN 9780071622448 LK accessmedicine.mhmedical.com/content.aspx?aid=1102699585 RD 2024/03/29 AB Disease summary:Thoracic aortic aneurysms (TAAs) are an enlargement of the aortic root, ascending aorta, or both; thoracic aneurysms can also involve the descending thoracic aorta but are not the focus of this chapter. Thoracic aortic dissections can originate at the ascending aorta (termed as type A dissection by the Stanford classification) or at the descending aorta just distal to the origin of the left subclavian artery (termed as type B dissection). This chapter reviews the heritable bases of thoracic aortic aneurysms and aortic dissections (TAAD), which are typically considered as a single genetic entity.Approximately 20% of individuals with TAAD but without an identified genetic syndrome also have a first-degree relative with TAAD (termed familial thoracic aortic aneurysm and dissection or FTAAD).FTAAD is primarily inherited in an autosomal dominant pattern with reduced penetrance and variable expressivity.The clinical presentation of FTAAD is variable in terms of age of onset, aortic disease presentation, and associated features such as bicuspid aortic valve, patent ductus arteriosus, other arterial aneurysms, and occlusive vascular disease leading to early-onset stroke and coronary artery disease (CAD).The clinical heterogeneity is due to underlying genetic heterogeneity, with seven genes identified to date for FTAAD.