Evidence map›Paper›PMID 36754525›Full record

ReviewJACC. Heart failure2023

Approaches to Genetic Screening in Cardiomyopathies: Practical Guidance for Clinicians.

Amy R Kontorovich

Open access · greenAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in JACC. Heart failure, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed, 1 pooled it
5.5field-weighted citation impact, top 3% 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

22 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.

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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

1 author at 1 institution in 1 country.

Amy R KontorovichCenter for Inherited Cardiovascular Diseases, Icahn School of Medicine at Mount Sinai, New York, New York, USA. Electronic address: amy.kontorovich@mountsinai.org.
Icahn School of Medicine at Mount Sinai · US

Funding

Elucidation of the role of human genetic factors underlying viral myocarditis susceptibilityK23HL140083 · NHLBI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KONTOROVICH, AMY R. · 2018 to 2022
$952k
NHLBI NIH HHS K23 HL140083
6 · The paper itself

Abstract

Patients and families benefit when the genetic etiology of cardiomyopathy is elucidated through a multidisciplinary approach including genetic counseling and judicious use of genetic testing. The yield of genetic testing is optimized when performed on a proband with a clear phenotype, and interrogates genes that are validated in association with that specific form of cardiomyopathy. Variants of uncertain significance are frequently uncovered and should not be overinterpreted. Identifying an impactful genetic variant as the cause of a patient's cardiomyopathy can have important prognostic impact, and enable streamlined cascade testing to highlight at risk relatives. Certain genotypes are associated with unique potential cardiac and noncardiac risk factors and may dictate personalized approaches to treatment.

Indexed as

CardiomyopathiesHeart FailureGenetic CounselingGenetic Predisposition to DiseaseGenetic TestingHumansPhenotypecardiomyopathygenetic counselinggeneticsgenetic testing

Identifiers

PMID36754525
PMCPMC10191168
OpenAlexW4319303596

What OpenQuestion holds

Textmetadata
LicenceTDM
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.