Int J Legal Med (2017) 131:1211–1219 DOI 10.1007/s00414-017-1583-9 ORIGINAL ARTICLE Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection 1,2 1,2 1,2,3 4 Marina Gago-Díaz & Eva Ramos-Luis & Silvia Zoppis & Esther Zorio & 5 6 7 2 2 Pilar Molina & Aitana Braza-Boïls & Juan Giner & Beatriz Sobrino & Jorge Amigo & 1,2 2,7 1,2,8 Alejandro Blanco-Verea & Ángel Carracedo & María Brion Received: 19 February 2017 /Accepted: 27 March 2017 /Published online: 8 April 2017 Springer-Verlag Berlin Heidelberg 2017 Abstract College of Medical Genetics and Genomics (ACMG) Background Acute thoracic aortic dissections and ruptures, recommendations published in 2015. All prioritized results the main life-threatening complications of the corresponding were confirmed by traditional sequencing. aneurysms, are an important cause of sudden cardiac death. Results From the total of 10 potentially pathogenic genetic Despite the usefulness of the molecular diagnosis of these variants identified in 7 out of the 17 initial samples, 2 of them conditions in the clinical setting, the corresponding forensic were further classified as pathogenic, 2 as likely pathogenic, 1 field remains largely unexplored. The main goal of this study as possibly benign, and the remaining 5
International Journal of Legal Medicine – Springer Journals
Published: Apr 8, 2017
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