Evidence map›Paper›PMID 39740200›Full record

ArticleESC heart failure2025

Early genetic screening and cardiac intervention in patients with cardiomyopathies in a multidisciplinary clinic.

Chandu Sadasivan, Luke R Gagnon, Deepan Hazra, Kaiming Wang, Erik Youngson, Jissy Thomas, Anita Y M Chan, D Ian Paterson, Finlay A McAlister, Tara Dzwiniel and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in ESC heart failure, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Impact of baroreflex activation on medical therapy optimization in heart failure: A single-center experience with electrophysiologist-led program.Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacing · 2026
    Article
  2. Staging of Fabry cardiomyopathy in clinical practice: an algorithm proposal.International journal of cardiology. Heart & vasculature · 2026
    Article
  3. Article
  4. Article
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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

13 authors.

Chandu SadasivanDivision of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.
Luke R GagnonDivision of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.
Deepan HazraDivision of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.
Kaiming WangDivision of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.
Erik YoungsonThe Alberta Strategy for Patient Oriented Research Support Unit (AbSPORU), Edmonton, AB, Canada.
Jissy ThomasDivision of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.
Anita Y M ChanDivision of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.
D Ian PatersonUniversity of Ottawa Heart Institute, Ottawa, ON, Canada.
Finlay A McAlisterThe Alberta Strategy for Patient Oriented Research Support Unit (AbSPORU), Edmonton, AB, Canada.
Tara DzwinielDepartment of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.
Wayne TymchakDivision of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.
Susan ChristianDepartment of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.
Gavin Y OuditDivision of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.

Funding

Heart and Stroke Foundation of Canada
6 · The paper itself

Abstract

aimsPatients with cardiomyopathies are a heterogeneous group of patients who experience high morbidity and mortality. Early cardiac assessment and intervention with access to genetic counselling in a multidisciplinary Cardiomyopathy Clinic may improve outcomes and prevent progression to advanced heart failure. METHODS AND

resultsOur prospective cohort study was conducted at a multidisciplinary Cardiomyopathy Clinic with 421 patients enrolled (42.5% female, median age 58 years), including 224 patients with dilated cardiomyopathy (DCM, 42.9% female, median age 57 years), 72 with hypertrophic cardiomyopathy (HCM, 43.1% female, median age 60 years), 79 with infiltrative cardiomyopathy (65.8% female, median age 70 years) and 46 who were stage A/at risk for genetic cardiomyopathy (54.3% female, median age 36 years). Patients were seen in follow-up at a median of 18 months. A pathogenic/likely pathogenic variant was identified in 28.5% of the total cohort, including 33.3% of the DCM cohort (28% TTN mutations) and 34.1% of the HCM cohort (60% MYBPC3 and 20% MYH7) who underwent genetic testing. The use of angiotensin-converting enzyme inhibitors/angiotensin receptor blockers/angiotensin receptor neprilysin inhibitor (48.3-69.5% of total cohort, P < 0.001), β-blockers (58.4-72.4%, P < 0.001), mineralocorticoid receptor antagonists (33.9-41.4%, P = 0.0014) and sodium/glucose cotransporter-2 inhibitors (5.3-27.9%, P < 0.001) all increased at follow-up. Precision-based therapies were also implemented, including tafamidis for transthyretin amyloidosis (n = 21), enzyme replacement therapy for Fabry disease (n = 14) and mavacamten (n = 4) for HCM. Optimization of medications and devices resulted in improvements in left ventricular ejection fraction (LVEF) from 27% to 43% at follow-up for DCM patients with reduced LVEF at baseline (P < 0.001) and reduction in left ventricular mass index (LVMI) from 156 g/m

conclusionOur study demonstrates that a multidisciplinary cardiomyopathy clinic can improve the clinical profiles of patients with diverse genetic cardiomyopathies.

Indexed as

CardiomyopathiesGenetic TestingMutationAdultAgedFemaleFollow-Up StudiesHumansMaleMiddle AgedProspective StudiesCardiac imagingCardiomyopathyGeneticsGenetic testingMedical therapyMultidisciplinary care

Identifiers

PMID39740200
PMCPMC12055407

What OpenQuestion holds

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LicenceCC BY-NC
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.