Evidence map›Paper›PMID 21723241›Full record

ArticleHeart rhythm2011

Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations.

Barbara Bauce, Alessandra Rampazzo, Cristina Basso, Elisa Mazzotti, Ilaria Rigato, Alexandros Steriotis, Giorgia Beffagna, Alessandra Lorenzon, Marzia De Bortoli, Kalliopi Pilichou and 7 more

Open access · hybridAbstract readComparative Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Heart rhythm, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
29citing papers in PubMed, 4 pooled it
3.3field-weighted citation impact, top 7% 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

29 citing papers in PubMed, 4 syntheses or guidelines pooled it, 86 citations in OpenAlex.

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

17 authors at 2 institutions in 2 countries.

Barbara BauceDepartment of Cardiac, Thoracic and Vascular Sciences, University of Padua, Padua, Italy. barbara.bauce@unipd.it
Alessandra Rampazzo
Cristina Basso
Elisa Mazzotti
Ilaria Rigato
Alexandros Steriotis
Giorgia Beffagna
Alessandra Lorenzon
Marzia De Bortoli
Kalliopi Pilichou
Martina Perazzolo Marra
Francesco Corbetti
Luciano Daliento
Sabino Iliceto
Domenico Corrado
Gaetano Thiene
Andrea Nava
University of Padua · ITThe Cardiac and Vascular Institute · US

Funding

Telethon GGP09293
6 · The paper itself

Abstract

backgroundArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease carrying a risk of sudden death. Information about the clinical features during childhood and the age at disease onset is scanty.

objectiveThe aim of the study was to describe the ARVC phenotype as its initial clinical manifestation in a pediatric population (<18 years) with desmosomal gene mutations.

methodsFifty-three ARVC desmosomal gene mutation carriers (mean age 12.3 ± 3.9 years) were investigated by electrocardiogram (ECG), signal-averaged ECG, 24-hour Holter, echocardiogram, and contrast-enhanced cardiac magnetic resonance (CMR).

resultsNone of the children ≤10 years old fulfilled the 1994 criteria, as opposed to six (33%) aged 11-14 years and eight aged >14 years (42%). At the end of follow-up (9 ± 7 years), 21 (40%) fulfilled the 1994 diagnostic criteria (mean age 16 ± 4 years). By using the 2010 criteria in subjects aged ≤18 years, 53% were unaffected, versus 62% by using the traditional criteria. More than two-thirds of affected subjects had moderate-severe forms of the disease. Contrast-enhanced CMR was performed in 21 (40%); of 13 unaffected gene mutation carriers, six showed ARVC morphological and/or tissue abnormalities.

conclusionIn pediatric ARVC mutation carriers, a diagnosis was achieved in 40% of cases, confirming that the disease usually develops during adolescence and young adulthood. The 2010 modified criteria seem to be more sensitive than the 1994 ones in identifying familial pediatric cases. Contrast-enhanced CMR can provide diagnostic information on gene mutation carriers not fulfilling either traditional or modified criteria. Management of asymptomatic gene mutation carriers remains the main clinical challenge.

Indexed as

EchocardiographyElectrocardiographyMutationAdolescentArrhythmogenic Right Ventricular DysplasiaChildDesmosomesDiagnosis, DifferentialDNADNA Mutational AnalysisFemaleFollow-Up StudiesHumansMagnetic Resonance Imaging, CineMalePedigreeDNA

Identifiers

PMID21723241
PMCPMC3205183
OpenAlexW2153263794

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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.