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
It’s your single place to instantly
discover and read the research
that matters to you.
Enjoy affordable access to
over 12 million articles from more than
10,000 peer-reviewed journals.
All for just $49/month
Read as many articles as you need. Full articles with original layout, charts and figures. Read online, from anywhere.
Keep up with your field with Personalized Recommendations and Follow Journals to get automatic updates.
It’s easy to organize your research with our built-in tools.
Read from thousands of the leading scholarly journals from SpringerNature, Elsevier, Wiley-Blackwell, Oxford University Press and more.
All the latest content is available, no embargo periods.
“Hi guys, I cannot tell you how much I love this resource. Incredible. I really believe you've hit the nail on the head with this site in regards to solving the research-purchase issue.”Daniel C.
“Whoa! It’s like Spotify but for academic articles.”@Phil_Robichaud
“I must say, @deepdyve is a fabulous solution to the independent researcher's problem of #access to #information.”@deepthiw
“My last article couldn't be possible without the platform @deepdyve that makes journal papers cheaper.”@JoseServera