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

Fecha de publicación:

Autores de IIS La Fe

Participantes ajenos a IIS La Fe

  • Gago-Diaz, M
  • Ramos-Luis, E
  • Zoppis, S
  • Sobrino, B
  • Amigo, J
  • Blanco-Verea, A
  • Carracedo, A
  • Brion, M

Grupos

Abstract

Acute 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 geneaEuroi assay as a diagnostic tool for acute thoracic aortic dissection autopsy cases. Massive 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. From 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. This 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.

Datos de la publicación

ISSN/ISSNe:
0937-9827, 1437-1596

INTERNATIONAL JOURNAL OF LEGAL MEDICINE  SPRINGER

Tipo:
Article
Páginas:
1211-1219
Factor de Impacto:
1,210 SCImago ℠
Cuartil:
Q1 SCImago ℠

Citas Recibidas en Web of Science: 11

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Keywords

  • Acute thoracic aortic disease; Candidate genes; Molecular autopsy; Massive parallel sequencing

Proyectos asociados

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ESTUDIO DE MICRORNAS IMPLICADOS EN LOS SISTEMAS HEMOSTÁTICO, PROTEOLÍTICO Y ANGIOGÉNICO: SU RELACIÓN CON LA TROMBOSIS Y LA PATOLOGÍA ENDOMETRIAL.

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CARACTERIZACION METABOLOMICA DE LA MIOCARDIOPATIA ARRITMOGENICA

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2013_0126_CRC_METABOLOMICA_ZORIO . FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2013

COMPREHENSIVE, INTEGRATIVE AND GENOMIC APPROACH TO THE UNDERSTANDING AND TREATMENT OF CANCER AND LEUKEMIA.

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2013_0454_CRC_ZORIO . ASTRAZENECA FARMACÉUTICA SPAIN, S.A.; FUNDACION ESPAÑOLA DE TROMBOSIS Y HEMOSTASIA . 2014

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CB16/11/00261 . INSTITUTO DE SALUD CARLOS III . 2017

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