Bulat A. Ziganshin, MD, Allison E

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Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting Bulat A. Ziganshin, MD, Allison E. Bailey, BS, Celinez Coons, Daniel Dykas, BS, Paris Charilaou, MD, Lokman H. Tanriverdi, Lucy Liu, BS, Maryann Tranquilli, RN, Allen E. Bale, MD, John A. Elefteriades, MD The Annals of Thoracic Surgery Volume 100, Issue 5, Pages 1604-1611 (November 2015) DOI: 10.1016/j.athoracsur.2015.04.106 Copyright © 2015 The Society of Thoracic Surgeons Terms and Conditions

Fig 1 Panel of 21 tested genes. Note that TRFBR1, TGFBR2, SMAD2, and TGBβ2 genes appear in both lists (syndromic on the left, and non-syndromic on the right), so that the total number of genes tested is 21. (TAAD = thoracic aortic aneurysm and dissection.) The Annals of Thoracic Surgery 2015 100, 1604-1611DOI: (10.1016/j.athoracsur.2015.04.106) Copyright © 2015 The Society of Thoracic Surgeons Terms and Conditions

Fig 2 Summary of whole exome sequencing results. Note that 1 patient had both a variant of unknown significance among the thoracic aortic aneurysm and dissection (TAAD) genes and an incidental finding. The Annals of Thoracic Surgery 2015 100, 1604-1611DOI: (10.1016/j.athoracsur.2015.04.106) Copyright © 2015 The Society of Thoracic Surgeons Terms and Conditions

Fig 3 Pedigrees of 2 families who underwent comprehensive genetic testing. (A) A deleterious MYLK mutation was found in 6 out of 10 tested family members. (B) A variant of unknown significance was identified in the TGFBR1 gene, which segregated with disease. The Annals of Thoracic Surgery 2015 100, 1604-1611DOI: (10.1016/j.athoracsur.2015.04.106) Copyright © 2015 The Society of Thoracic Surgeons Terms and Conditions