Evidence map›Paper›PMID 35900642›Full record

ReviewCurrent cardiology reports2022

Emerging Genotype-Phenotype Associations in Dilated Cardiomyopathy.

Joyce N Njoroge, Jennifer C Mangena, Chiaka Aribeana, Victoria N Parikh

Abstract readReview
PubMed Publisher
In one paragraph

Review in Current cardiology reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
3.1field-weighted citation impact, top 7% 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

11 citing papers in PubMed, 20 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

4 authors at 2 institutions in 1 country.

Joyce N NjorogeDivision of Cardiology, Department of Medicine, University of California San Francisco, San Francisco, CA, 94103, USA.
Jennifer C MangenaStanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, Falk CVRB room CV-154, 870 Quarry Road, Stanford, CA, 94305, USA.
Chiaka AribeanaStanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, Falk CVRB room CV-154, 870 Quarry Road, Stanford, CA, 94305, USA.
Victoria N ParikhStanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, Falk CVRB room CV-154, 870 Quarry Road, Stanford, CA, 94305, USA. vparikh@stanford.edu.
Stanford University · USUniversity of California, San Francisco · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purpose of reviewThe disease burden of inherited dilated cardiomyopathy (DCM) is large and likely underestimated. This population stands to benefit immensely from therapeutic approaches tailored to the underlying genetic causes. Here, we review recent advances in understanding novel genotype-phenotype relationships and how these can improve the care of patients with inherited DCM. RECENT

findingsIn the last several years, discovery of novel DCM-associated genes, gene-specific DCM outcomes, and nuanced information about variant-environment interactions have advanced our understanding of inherited DCM. Specifically, novel associations of genes with specific clinical phenotypes can help to assess sudden cardiac death risk and guide counseling around behavioral and environmental exposures that may worsen disease. Important expansions of the current genotype-phenotype profiling include the newly DCM-associated FLNC variant, prognostically significant LMNA, DSP inflammatory cardiomyopathy, and the highly penetrant features of RBM20 variants as well as the role of TTN variants in compounding the effects of environmental factors on toxin-mediated DCM. Future directions to improve diagnostic accuracy and prognostic improvement in DCM will center not just on identification of new genes, but also on understanding the interaction of known and novel variants in known DCM genes with patient genetic background and environment.

Indexed as

Cardiomyopathy, DilatedDeath, Sudden, CardiacGenetic Association StudiesHumansMutationPhenotypePrognosisDilated cardiomyopathyGenetic diseaseInherited cardiomyopathyPopulation genomicsPrecision medicine

Identifiers

PMID35900642
OpenAlexW4288429843

What OpenQuestion holds

Textmetadata
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.