Evidence map›Paper›PMID 38275387›Full record

ReviewBiomedicines2023

Utility of Genetic Testing in Patients with Transthyretin Amyloid Cardiomyopathy: A Brief Review.

Ana-Maria Merino-Merino, Jorge Labrador-Gomez, Ester Sanchez-Corral, Pedro-David Delgado-Lopez, Jose-Angel Perez-Rivera

Open access · goldAbstract readReview
In one paragraph

Review in Biomedicines, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.8field-weighted citation impact, top 26% 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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Article
  3. 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

5 authors at 1 institution in 1 country.

Ana-Maria Merino-MerinoCardiology Department, Universitary Hospital of Burgos, 09006 Burgos, Spain.
Jorge Labrador-GomezHaematology Department, Universitary Hospital of Burgos, 09006 Burgos, Spain.ORCID 0000-0002-3696-0287
Ester Sanchez-CorralCardiology Department, Universitary Hospital of Burgos, 09006 Burgos, Spain.
Pedro-David Delgado-LopezNeurosurgery Department, Universitary Hospital of Burgos, 09006 Burgos, Spain.
Jose-Angel Perez-RiveraCardiology Department, Universitary Hospital of Burgos, 09006 Burgos, Spain.ORCID 0000-0003-1451-1445
Hospital Universitario de Burgos · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Transthyretin amyloid cardiomyopathy (ATTR-CM) is an increasingly diagnosed condition. Although wild-type transthyretin amyloidosis (ATTRwt) is the most common ATTR-CM, hereditary transthyretin amyloidosis (ATTRv) may also occur. Currently, genetic testing for transthyretin pathogenic variants is recommended for patients with a confirmed clinical diagnosis of ATTR-CM. In fact, confirmation of this autosomal dominant pathogenic variant prompts genetic counselling and allows early identification of affected relatives. Additionally, in the presence of an ATTR-CM-associated polyneuropathy, specific drugs targeting transthyretin can be used. In this paper, we review the utility of genetic testing for the detection of pathogenic variants among patients harboring ATTR-CM and its impact on the natural history of the disease.

Indexed as

family screeninggeneticstransthyretin amyloidosis

Identifiers

PMID38275387
PMCPMC10813439
OpenAlexW4390058811

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.