Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2017-04-08

AUTHORS

Marina Gago-Díaz, Eva Ramos-Luis, Silvia Zoppis, Esther Zorio, Pilar Molina, Aitana Braza-Boïls, Juan Giner, Beatriz Sobrino, Jorge Amigo, Alejandro Blanco-Verea, Ángel Carracedo, María Brion

ABSTRACT

BackgroundAcute thoracic aortic dissections and ruptures, the main life-threatening complications of the corresponding aneurysms, are an important cause of sudden cardiac death. Despite the usefulness of the molecular diagnosis of these conditions in the clinical setting, the corresponding forensic field remains largely unexplored. The main goal of this study was to explore and validate a new massive parallel sequencing candidate gene​ assay as a diagnostic tool for acute thoracic aortic dissection autopsy cases.Materials and methodsMassive parallel sequencing of 22 thoracic aortic disease candidate genes performed in 17 cases of thoracic aortic dissection using AmpliSeq and Ion Proton technologies. Genetic variants were filtered by location, type, and frequency at the Exome Aggregation Consortium and an internal database and further classified based on the American College of Medical Genetics and Genomics (ACMG) recommendations published in 2015. All prioritized results were confirmed by traditional sequencing.ResultsFrom the total of 10 potentially pathogenic genetic variants identified in 7 out of the 17 initial samples, 2 of them were further classified as pathogenic, 2 as likely pathogenic, 1 as possibly benign, and the remaining 5 as variants of uncertain significance, reaching a molecular autopsy yield of 23%, approximately.ConclusionsThis massive parallel sequencing candidate gene approach proved useful for the molecular autopsy of aortic dissection sudden cardiac death cases and should therefore be progressively incorporated into the forensic field, being especially beneficial for the anticipated diagnosis and risk stratification of any other family member at risk of developing the same condition. More... »

PAGES

1211-1219

References to SciGraph publications

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  • Journal

    TITLE

    International Journal of Legal Medicine

    ISSUE

    5

    VOLUME

    131

    Clinical Trials linked to this publication

    Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s00414-017-1583-9

    DOI

    http://dx.doi.org/10.1007/s00414-017-1583-9

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1084517774

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/28391405


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