Evidence map›Paper›PMID 40525281›Full record

ArticleCirculation2025

Family Screening in Relatives at Risk for Plakophilin-2-Associated Arrhythmogenic Right Ventricular Cardiomyopathy.

Steven A Muller, Babken Asatryan, Alessio Gasperetti, Maarten J Cramer, Ahmad S Amin, Peter Loh, Richard T Carrick, Moniek G P J Cox, Pim van der Harst, Marish I F J Oerlemans and 8 more

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Article in Circulation, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing 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

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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

7 citing papers in PubMed.

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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

18 authors.

Steven A MullerDivision of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD (S.A.M., B.A., A.G., R.T.C., C.T., B.M., S.L.Z., H.C., C.A.J.).ORCID 0000-0002-2674-8709
Babken AsatryanDivision of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD (S.A.M., B.A., A.G., R.T.C., C.T., B.M., S.L.Z., H.C., C.A.J.).ORCID 0000-0002-0050-5717
Alessio GasperettiDivision of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD (S.A.M., B.A., A.G., R.T.C., C.T., B.M., S.L.Z., H.C., C.A.J.).ORCID 0000-0003-3432-070X
Maarten J CramerDepartment of Cardiology, University Medical Center Utrecht, Netherlands (S.A.M., M.J.C., P.L., P.v.d.H., M.I.F.J.O., A.S.J.M.t.R.).ORCID 0000-0002-6041-6759
Ahmad S AminMember of the European Reference Network for rare, low prevalence and complex diseases of the heart: ERN GUARD-Heart' (S.A.M., M.J.C., A.S.A., P.L., P.v.d.H., M.I.F.J.O., S.-C.Y., J.P.v.T., A.S.J.M.t.R.).ORCID 0000-0002-1600-7907
Peter LohDepartment of Cardiology, University Medical Center Utrecht, Netherlands (S.A.M., M.J.C., P.L., P.v.d.H., M.I.F.J.O., A.S.J.M.t.R.).ORCID 0000-0002-3263-9007
Richard T CarrickDivision of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD (S.A.M., B.A., A.G., R.T.C., C.T., B.M., S.L.Z., H.C., C.A.J.).ORCID 0000-0001-5589-1216
Moniek G P J CoxHeart Center, University Medical Center Groningen, Department of Cardiology, University of Groningen, Netherlands (M.G.P.J.C.).ORCID 0000-0003-2825-8428
Pim van der HarstDepartment of Cardiology, University Medical Center Utrecht, Netherlands (S.A.M., M.J.C., P.L., P.v.d.H., M.I.F.J.O., A.S.J.M.t.R.).ORCID 0000-0002-2713-686X
Marish I F J OerlemansDepartment of Cardiology, University Medical Center Utrecht, Netherlands (S.A.M., M.J.C., P.L., P.v.d.H., M.I.F.J.O., A.S.J.M.t.R.).ORCID 0000-0003-3166-518X
Crystal TichnellDivision of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD (S.A.M., B.A., A.G., R.T.C., C.T., B.M., S.L.Z., H.C., C.A.J.).ORCID 0000-0003-3465-294X
Sing-Chien YapMember of the European Reference Network for rare, low prevalence and complex diseases of the heart: ERN GUARD-Heart' (S.A.M., M.J.C., A.S.A., P.L., P.v.d.H., M.I.F.J.O., S.-C.Y., J.P.v.T., A.S.J.M.t.R.).ORCID 0000-0003-4520-2725
Brittney MurrayDivision of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD (S.A.M., B.A., A.G., R.T.C., C.T., B.M., S.L.Z., H.C., C.A.J.).
Stefan L ZimmermanDivision of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD (S.A.M., B.A., A.G., R.T.C., C.T., B.M., S.L.Z., H.C., C.A.J.).ORCID 0000-0002-9422-6742
J Peter van TintelenMember of the European Reference Network for rare, low prevalence and complex diseases of the heart: ERN GUARD-Heart' (S.A.M., M.J.C., A.S.A., P.L., P.v.d.H., M.I.F.J.O., S.-C.Y., J.P.v.T., A.S.J.M.t.R.).ORCID 0000-0003-3854-6749
Hugh CalkinsDivision of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD (S.A.M., B.A., A.G., R.T.C., C.T., B.M., S.L.Z., H.C., C.A.J.).ORCID 0000-0002-9262-9433
Anneline S J M Te Riele *Department of Cardiology, University Medical Center Utrecht, Netherlands (S.A.M., M.J.C., P.L., P.v.d.H., M.I.F.J.O., A.S.J.M.t.R.).ORCID 0000-0002-4694-4790
Cynthia A James *Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD (S.A.M., B.A., A.G., R.T.C., C.T., B.M., S.L.Z., H.C., C.A.J.).ORCID 0000-0001-8040-4600

Funding

PATHOPHYSIOLOGY OF MYOCARDIAL DISEASEST32HL007227 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI Chulan Kwon, WENDY S POST · 1985 to 2026
$21.2M
NHLBI NIH HHS L30 HL165535NHLBI NIH HHS T32 HL007227
6 · The paper itself

Abstract

backgroundPenetrance and risk of ventricular arrhythmias (VAs) in arrhythmogenic right ventricular cardiomyopathy (ARVC) are increasingly recognized as being genotype specific. Therefore, genotype-informed family screening protocols may lead to safer and more personalized recommendations than the current one-size-fits-all screening recommendations. We aimed to develop a safe, evidence-based plakophilin-2 (

methodsWe included 295 relatives (41% male; age 30.9 years [18.0-47.7 years]) with a pathogenic or likely pathogenic

resultsAt baseline, 110 relatives (37%) had definite ARVC. During 8.5 years (4.2-12.9 years) of follow-up, 62 of 185 relatives (34%) without definite ARVC at baseline progressed to definite ARVC diagnosis, and 35 of 295 of all relatives (12%) had VA. VAs occurred only in relatives who previously fulfilled definite ARVC diagnosis. Relatives with borderline ARVC (fulfillment of one minor criterion plus the major family history criterion) progressed 5 times faster in the multistate model to definite ARVC diagnosis and compared with genotype-positive/phenotype-negative (G+/P-) relatives (ie, major family history criterion alone). Relatives 20 to 40 years of age had increased risk for developing definite ARVC (hazard ratio, 2.23;

conclusionsAn evidence-based longitudinal screening algorithm that integrates age, symptoms, and baseline clinical phenotype may improve patient care and improve efficiency of clinical resource allocation.

Indexed as

Arrhythmogenic Right Ventricular DysplasiaPlakophilinsAdolescentAdultAlgorithmsFemaleGenetic Predisposition to DiseaseGenetic TestingHumansMaleMiddle AgedPedigreePhenotypeRisk FactorsYoung AdultPKP2 protein, humanPlakophilinscardiomyopathiesdeath, sudden, cardiacgeneticsgenotypeprecision medicine

Identifiers

PMID40525281
PMCPMC12240474

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