In one paragraphArticle in Circulation. Arrhythmia and electrophysiology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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0citing papers in PubMed
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What it found
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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 registryThe trial behind it
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3 · Its place in the literatureWho cites it
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4 · The recordCorrections and comments
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5 · Who and what moneyAuthors and funding
17 authors.
Steven A MullerDivision of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD (S.A.M., B.M., C.T., R.T.C., A.G., B.A., S.L.Z., H.C., C.A.J.).ORCID 0000-0002-2674-8709 Brittney MurrayDivision of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD (S.A.M., B.M., C.T., R.T.C., A.G., B.A., S.L.Z., H.C., C.A.J.).
Crystal TichnellDivision of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD (S.A.M., B.M., C.T., R.T.C., A.G., B.A., S.L.Z., H.C., C.A.J.).
Arman SalavatiDepartment of Cardiology, University Medical Center Utrecht, the Netherlands (S.A.M., A.S., P.L., P.v.d.H., M.J.C., M.I.F.J.O., A.S.J.M.t.R.).ORCID 0009-0008-5557-0023 Peter LohDepartment of Cardiology, University Medical Center Utrecht, the Netherlands (S.A.M., A.S., P.L., P.v.d.H., M.J.C., 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.M., C.T., R.T.C., A.G., B.A., 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, the Netherlands (M.G.P.J.C.).ORCID 0000-0003-2825-8428 Pim van der HarstDepartment of Cardiology, University Medical Center Utrecht, the Netherlands (S.A.M., A.S., P.L., P.v.d.H., M.J.C., M.I.F.J.O., A.S.J.M.t.R.).ORCID 0000-0002-2713-686X Maarten J CramerDepartment of Cardiology, University Medical Center Utrecht, the Netherlands (S.A.M., A.S., P.L., P.v.d.H., M.J.C., M.I.F.J.O., A.S.J.M.t.R.).ORCID 0000-0002-6041-6759 Marish I F J OerlemansDepartment of Cardiology, University Medical Center Utrecht, the Netherlands (S.A.M., A.S., P.L., P.v.d.H., M.J.C., M.I.F.J.O., A.S.J.M.t.R.).ORCID 0000-0003-3166-518X Alessio GasperettiDivision of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD (S.A.M., B.M., C.T., R.T.C., A.G., B.A., S.L.Z., H.C., C.A.J.).ORCID 0000-0003-3432-070X Babken AsatryanDivision of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD (S.A.M., B.M., C.T., R.T.C., A.G., B.A., S.L.Z., H.C., C.A.J.).ORCID 0000-0002-0050-5717 Stefan L ZimmermanDivision of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD (S.A.M., B.M., C.T., R.T.C., A.G., B.A., 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., A.S., P.L., P.v.d.H., M.J.C., M.I.F.J.O., 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.M., C.T., R.T.C., A.G., B.A., S.L.Z., H.C., C.A.J.).ORCID 0000-0002-9262-9433 Cynthia A James *Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD (S.A.M., B.M., C.T., R.T.C., A.G., B.A., S.L.Z., H.C., C.A.J.).ORCID 0000-0001-8040-4600 Anneline S J M Te Riele *Department of Cardiology, University Medical Center Utrecht, the Netherlands (S.A.M., A.S., P.L., P.v.d.H., M.J.C., M.I.F.J.O., A.S.J.M.t.R.).ORCID 0000-0002-4694-4790 Funding
PATHOPHYSIOLOGY OF MYOCARDIAL DISEASEST32HL007227 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI Chulan Kwon, WENDY S POST · 1985 to 2026
$21.2MNHLBI NIH HHS L30 HL165535NHLBI NIH HHS T32 HL007227
6 · The paper itselfAbstract
backgroundCurrent guidelines recommend regular screening for first-degree relatives of gene-elusive arrhythmogenic right ventricular cardiomyopathy (ARVC) patients using a similar regimen as for genotype-positive/phenotype-negative relatives. However, the multifactorial nature of gene-elusive ARVC may necessitate a different approach. This study aimed to determine the yield of cardiac screening in first-degree relatives of ARVC probands without a validated genetic cause.
methodsWe included all first-degree relatives of probands who (1) met the 2010 Task Force Criteria, (2) underwent next-generation sequencing that included all genes with at least moderate evidence for ARVC causation per Clinical Genome Resource appraisal (validated ARVC genes), and (3) had no pathogenic/likely pathogenic (P/LP) variants identified in these genes. The primary and secondary end points were definite ARVC by the 2010 Task Force Criteria and ventricular arrhythmia, respectively.
resultsWe included 44 relatives (39.0 [22.3-45.8] years; 36% male) from 24 families. In 4 (17%) families, a P/LP variant was identified in a different cardiomyopathy/arrhythmia gene (
conclusionsThese findings highlight the importance of managing first-degree relatives of ARVC probands without a validated genetic cause similarly to genotype-positive ARVC relatives. Furthermore, using a broad cardiomyopathy and arrhythmia gene panel in ARVC probands, rather than limiting testing to validated ARVC genes alone, is warranted.
Indexed as
Arrhythmogenic Right Ventricular DysplasiaGenetic TestingMutationAdultDNA Mutational AnalysisFemaleGenetic Predisposition to DiseaseHeredityHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedPedigreePhenotypePredictive Value of TestsRisk Factorsarrhythmogenic right ventricular dysplasiaasymptomatic diseasesdeath, sudden, cardiacearly diagnosisprecision medicinetachycardia
Identifiers
PMID42389803
PMCPMC13336274
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