Evidence map›Paper›PMID 40200748›Full record

ArticleFuture cardiology2025

Cardiomyopathy genetic testing: insights into demographics, counseling, and cascade screening.

Quan M Bui, Elizabeth Silver, Alessia Argiro, Sarah Murray, Lauren Korty, Jorge Silva Enciso, Marcus A Urey, Neil C Chi, Kimberly N Hong, Eric D Adler

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Future cardiology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. Article
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

10 authors.

Quan M BuiDivision of Cardiovascular Medicine, University of California, San Diego, CA, USA.
Elizabeth SilverDivision of Cardiovascular Medicine, University of California, San Diego, CA, USA.
Alessia ArgiroCardiomyopathy Unit, University of Florence, Florence, Italy.
Sarah MurrayDivision of Laboratory and Genomic Medicine, Department of Pathology, University of California, San Diego, CA, USA.
Lauren KortyDivision of Genetic Counseling, University of California, San Diego, CA, USA.
Jorge Silva EncisoDivision of Cardiovascular Medicine, University of California, San Diego, CA, USA.
Marcus A UreyDivision of Cardiovascular Medicine, University of California, San Diego, CA, USA.
Neil C ChiDivision of Cardiovascular Medicine, University of California, San Diego, CA, USA.
Kimberly N HongDivision of Cardiovascular Medicine, University of California, San Diego, CA, USA.
Eric D AdlerDivision of Cardiovascular Medicine, University of California, San Diego, CA, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGenetic testing (GT) is clinically indicated for patients with suspected inherited cardiomyopathy (CM) but is underutilized.

methodsThis single-center study included patients with CM who underwent outpatient GT from 2018 to 2023. Data were collected from the medical record.

resultsA total of 306 patients were included, with a mean age of 62 years and were predominantly male (63%) and White (59%). Heart failure (92%) cardiologists were most likely to order testing, followed by general cardiology (5%) providers at tertiary hospital clinics (89%). The most common phenotypes were hypertrophic (30%), amyloid (29%) and dilated (21%). There were 17% of patients who had a positive test and 53% of patients who had a variant of uncertain significance. Patients with a positive family history had a significantly higher positive yield compared to those without (

conclusionsOutpatient GT for CM was primarily ordered by heart failure cardiologists in tertiary hospital clinics. Cascade screening was low, which may reflect the limited use of genetic counselors. Further research is needed to understand implementation barriers to GT.

Indexed as

CardiomyopathiesGenetic CounselingGenetic TestingAdultAgedFemaleHumansMaleMiddle AgedPhenotypeRetrospective Studiesbiomarkerscardiac genesCardiomyopathiesheart failurepersonalized medicine

Identifiers

PMID40200748
PMCPMC12026082

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Registered trials

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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.