Evidence map›Paper›PMID 33282382›Full record

ArticleJournal of thoracic disease2020

Acute Stanford type B aortic dissection-who benefits from genetic testing?

Philipp Erhart, Laura Gieldon, Marius Ante, Daniel Körfer, Tim Strom, Caspar Grond-Ginsbach, Dittmar Böckler

Open access · diamondAbstract read
In one paragraph

Article in Journal of thoracic disease, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.0field-weighted citation impact, top 20% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

8 citing papers in PubMed, 12 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Genetic Variation inJournal of cardiovascular development and disease · 2022
    Article
  7. Association of genetic variants inFrontiers in genetics · 2022
    Article
  8. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 2 institutions in 1 country.

Philipp ErhartDepartment of Vascular and Endovascular Surgery, Ruprechts-Karls University Heidelberg, Im Neuenheimer Feld 420, 69120 Heidelberg, Germany.
Laura GieldonInstitute of Human Genetics, Ruprecht-Karls University Heidelberg, Im Neuenheimer Feld 440, 69120 Heidelberg, Germany.
Marius AnteDepartment of Vascular and Endovascular Surgery, Ruprechts-Karls University Heidelberg, Im Neuenheimer Feld 420, 69120 Heidelberg, Germany.
Daniel KörferDepartment of Vascular and Endovascular Surgery, Ruprechts-Karls University Heidelberg, Im Neuenheimer Feld 420, 69120 Heidelberg, Germany.
Tim StromInstitute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Caspar Grond-GinsbachDepartment of Vascular and Endovascular Surgery, Ruprechts-Karls University Heidelberg, Im Neuenheimer Feld 420, 69120 Heidelberg, Germany.
Dittmar BöcklerDepartment of Vascular and Endovascular Surgery, Ruprechts-Karls University Heidelberg, Im Neuenheimer Feld 420, 69120 Heidelberg, Germany.
Heidelberg University · DEHelmholtz Zentrum München · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundStanford type B aortic dissection is a rare, life-threatening complex phenotype associated with several modifiable and genetic risk factors. In the current study of a hospital-based, consecutive series of aortic dissection patients we propose a selection based on age and family history of aortic disease for genetic testing and detection of causative gene variants.

methodsIn this single center cohort study from 2013 to 2018 patients with acute Stanford type B aortic dissections were consecutively treated and analyzed by next generation sequencing based on selection criteria (age of disease onset ≤45 years and/or positive familial history for aortic disease) to detect genome-wide pathogenic variants in protein-coding sequences and to identify large copy number variants (CNV). Variants in a predefined panel of 30 genes associated with the familial thoracic aortic aneurysm and dissection (TAAD) syndrome were evaluated.

resultsFrom 105 patients nine matched selection criteria for genetic testing. Next-generation sequencing analysis revealed causal variants in

conclusionsSelection of patients on the basis of young age and familial inheritance of aortic disease favors the identification of disease-causing genetic variants in a clinical cohort of patients with Stanford type B aortic dissection.

Indexed as

Aortic dissection type Bconnective tissue disordergenetic testingprecision medicinethoracic aortic aneurysm and dissection (TAAD)

Identifiers

PMID33282382
PMCPMC7711383
OpenAlexW3095128678

What OpenQuestion holds

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LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.