Materials Map

Discover the materials research landscape. Find experts, partners, networks.

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The Materials Map is an open tool for improving networking and interdisciplinary exchange within materials research. It enables cross-database search for cooperation and network partners and discovering of the research landscape.

The dashboard provides detailed information about the selected scientist, e.g. publications. The dashboard can be filtered and shows the relationship to co-authors in different diagrams. In addition, a link is provided to find contact information.

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The Materials Map is still under development. In its current state, it is only based on one single data source and, thus, incomplete and contains duplicates. We are working on incorporating new open data sources like ORCID to improve the quality and the timeliness of our data. We will update Materials Map as soon as possible and kindly ask for your patience.

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Publications (1/1 displayed)

  • 2022Importance of genetic testing in unexplained cardiac arrest58citations

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Fournier, Anne
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Green, Martin
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2022

Co-Authors (by relevance)

  • Fournier, Anne
  • Green, Martin
  • Seifer, Colette
  • Antiperovitch, Pavel
  • Arbour, Laura
  • Cadrin-Tourigny, Julia
  • Cheung, Christopher
  • Laksman, Zachary
  • Talajic, Mario
  • Healey, Jeff
  • Angaran, Paul
  • Simpson, Christopher
  • Tadros, Rafik
  • Macintyre, Ciorsti
  • Gollob, Michael
  • Leather, Richard
  • Alqarawi, Wael
  • Khan, Habib
  • Roberts, Jason D.
  • Davies, Brianna
  • Steinberg, Christian
  • Guerra, Peter G.
OrganizationsLocationPeople

article

Importance of genetic testing in unexplained cardiac arrest

  • Fournier, Anne
  • Green, Martin
  • Seifer, Colette
  • Antiperovitch, Pavel
  • Arbour, Laura
  • Cadrin-Tourigny, Julia
  • Cheung, Christopher
  • Laksman, Zachary
  • Talajic, Mario
  • Healey, Jeff
  • Angaran, Paul
  • Lettre, Guillaume
  • Simpson, Christopher
  • Tadros, Rafik
  • Macintyre, Ciorsti
  • Gollob, Michael
  • Leather, Richard
  • Alqarawi, Wael
  • Khan, Habib
  • Roberts, Jason D.
  • Davies, Brianna
  • Steinberg, Christian
  • Guerra, Peter G.
Abstract

<jats:title>Abstract</jats:title><jats:sec><jats:title>Aims</jats:title><jats:p>Genetic testing is recommended in specific inherited heart diseases but its role remains unclear and it is not currently recommended in unexplained cardiac arrest (UCA). We sought to assess the yield and clinical utility of genetic testing in UCA using whole-exome sequencing (WES).</jats:p></jats:sec><jats:sec><jats:title>Methods and results</jats:title><jats:p>Survivors of UCA requiring external defibrillation were included from the Cardiac Arrest Survivor with Preserved Ejection fraction Registry. Whole-exome sequencing was performed, followed by assessment of rare variants in previously reported cardiovascular disease genes. A total of 228 UCA survivors (mean age at arrest 39 ± 13 years) were included. The majority were males (66%) and of European ancestry (81%). Following advanced clinical testing at baseline, the likely aetiology of cardiac arrest was determined in 21/228 (9%) cases. Whole-exome sequencing identified a pathogenic or likely pathogenic (P/LP) variant in 23/228 (10%) of UCA survivors overall, increasing the proportion of ‘explained’ cases from 9% only following phenotyping to 18% when combining phenotyping with WES. Notably, 13 (57%) of the 23 P/LP variants identified were located in genes associated with cardiomyopathy, in the absence of a diagnosis of cardiomyopathy at the time of arrest.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>Genetic testing identifies a disease-causing variant in 10% of apparent UCA survivors. The majority of disease-causing variants was located in cardiomyopathy-associated genes, highlighting the arrhythmogenic potential of such variants in the absence of an overt cardiomyopathy diagnosis. The present study supports the use of genetic testing including assessment of arrhythmia and cardiomyopathy genes in survivors of UCA.</jats:p></jats:sec>

Topics
  • impedance spectroscopy
  • size-exclusion chromatography