Evidence map›Paper›PMID 25497880›Full record

ArticleJournal of the American Heart Association2014

Phenotypic analysis of arrhythmogenic cardiomyopathy in the Hutterite population: role of electrocardiogram in identifying high-risk desmocollin-2 carriers.

Jorge A Wong, Henry J Duff, Tiffany Yuen, Louis Kolman, Derek V Exner, Sarah G Weeks, Brenda Gerull

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of the American Heart Association, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.4field-weighted citation impact, top 32% 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

4 citing papers in PubMed, 12 citations in OpenAlex.

  1. Specification of frequency criteria for secondary findings genes to improve variant classification concordance.Genetics in medicine : official journal of the American College of Medical Genetics · 2026
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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

7 authors at 2 institutions in 1 country.

Jorge A WongLibin Cardiovascular Institute of Alberta & Department of Cardiac Sciences, University of Calgary, Alberta, Canada (J.A.W., H.J.D., T.Y., L.K., D.V.E., S.G.W., B.G.).
Henry J DuffLibin Cardiovascular Institute of Alberta & Department of Cardiac Sciences, University of Calgary, Alberta, Canada (J.A.W., H.J.D., T.Y., L.K., D.V.E., S.G.W., B.G.).
Tiffany YuenLibin Cardiovascular Institute of Alberta & Department of Cardiac Sciences, University of Calgary, Alberta, Canada (J.A.W., H.J.D., T.Y., L.K., D.V.E., S.G.W., B.G.).
Louis KolmanLibin Cardiovascular Institute of Alberta & Department of Cardiac Sciences, University of Calgary, Alberta, Canada (J.A.W., H.J.D., T.Y., L.K., D.V.E., S.G.W., B.G.).
Derek V ExnerLibin Cardiovascular Institute of Alberta & Department of Cardiac Sciences, University of Calgary, Alberta, Canada (J.A.W., H.J.D., T.Y., L.K., D.V.E., S.G.W., B.G.).
Sarah G WeeksLibin Cardiovascular Institute of Alberta & Department of Cardiac Sciences, University of Calgary, Alberta, Canada (J.A.W., H.J.D., T.Y., L.K., D.V.E., S.G.W., B.G.).
Brenda GerullLibin Cardiovascular Institute of Alberta & Department of Cardiac Sciences, University of Calgary, Alberta, Canada (J.A.W., H.J.D., T.Y., L.K., D.V.E., S.G.W., B.G.).
Libin Cardiovascular Institute of Alberta · CAUniversity of Calgary · CA

Funding

Canadian Institutes of Health Research
6 · The paper itself

Abstract

backgroundThe p.Gln554X mutation in desmocollin-2 (DSC2) is prevalent in ≈10% of the Hutterite population. While the homozygous mutation causes severe biventricular arrhythmogenic right ventricular cardiomyopathy, the phenotypic features and prognosis of heterozygotes remain incompletely understood. METHODS AND

resultsEleven homozygotes (mean age 32±8 years, 45% female), 28 heterozygotes (mean age 40±15 years, 50% female), and 22 mutation-negatives (mean age 43±17 years, 41% female) were examined. Diagnostic testing was performed as per the arrhythmogenic right ventricular cardiomyopathy modified Task Force Criteria. Inverted T waves in the right precordial leads on ECG were seen in all homozygotes but not in their counterparts (P<0.001). Homozygotes had higher median daily premature ventricular complex burden than did heterozygotes or mutation-negatives (1407 [IQR 1080 to 2936] versus 2 [IQR 0 to 6] versus 6 [IQR 0 to 214], P=0.0002). Ventricular tachycardia was observed in 60% of homozygotes but in none of the remaining individuals (P<0.001). On cardiac magnetic resonance imaging, homozygotes had significantly larger indexed end-diastolic volumes (right ventricular: 122±24 versus 83±17 versus 83±12 mL/m(2), P<0.0001; left ventricular: 93±18 versus 76±13 versus 80±11 mL/m(2), P=0.0124) and lower ejection fraction values compared with heterozygotes and mutation-negatives (right ventricular ejection fraction: 41±9% versus 59±9% versus 61±6%, P<0.0001; left ventricular ejection fraction: 53±8% versus 65±5% versus 64±5%, P<0.0001). Most affected individuals lacked right ventricular wall motion abnormalities. Thus, few met cardiac magnetic resonance imaging task force criteria.

conclusionsThe ECG reliably identifies homozygous p.Gln554X carriers and may be useful as an initial step in the screening of high-risk Hutterites. The cardiac phenotype of heterozygotes appears benign, but further prospective follow-up of their arrhythmic risk is needed.

Indexed as

ElectrocardiographyMutationAdolescentAdultAlbertaArrhythmogenic Right Ventricular DysplasiaDeath, Sudden, CardiacDesmocollinsDNA Mutational AnalysisEthnicityFemaleGenetic Predisposition to DiseaseHeterozygoteHomozygoteHumansMagnetic Resonance ImagingDesmocollinsDSC2 protein, humanarrhythmogenic cardiomyopathyarrhythmogenic right ventricular cardiomyopathy/dysplasiaECG screeningHutterite populationrisk stratificationsudden cardiac death

Identifiers

PMID25497880
PMCPMC4338736
OpenAlexW2097061926

What OpenQuestion holds

Textmetadata
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.