Evidence map›Paper›PMID 25398255›Full record

ReviewClinical research in cardiology : official journal of the German Cardiac Society2015

Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy.

Mireia Alcalde, Oscar Campuzano, Georgia Sarquella-Brugada, Elena Arbelo, Catarina Allegue, Sara Partemi, Anna Iglesias, Antonio Oliva, Josep Brugada, Ramon Brugada

Abstract readReview
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In one paragraph

Review in Clinical research in cardiology : official journal of the German Cardiac Society, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 pooled it
–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

7 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Clinical outcomes associated with sarcomere mutations in hypertrophic cardiomyopathy: a meta-analysis on 7675 individuals.Clinical research in cardiology : official journal of the German Cardiac Society · 2018
    Pooled it
  2. Long-time "real-life" performance of the subcutaneous ICD in patients with electrical heart disease or idiopathic ventricular fibrillation.Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacing · 2016
    Trial
  3. Observational
  4. Article
  5. Article
  6. Long-term follow-up of subcutaneous ICD systems in patients with hypertrophic cardiomyopathy: a single-center experience.Clinical research in cardiology : official journal of the German Cardiac Society · 2016
    Article
  7. Limitations in S-ICD therapy: reasons for system explantation.Clinical research in cardiology : official journal of the German Cardiac Society · 2015
    Article
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

10 authors.

Mireia AlcaldeCardiovascular Genetics Centre, IDIBGI-University of Girona, C/Pic de Peguera 11, 17003, Girona, Spain.
Oscar Campuzano
Georgia Sarquella-Brugada
Elena Arbelo
Catarina Allegue
Sara Partemi
Anna Iglesias
Antonio Oliva
Josep Brugada
Ramon Brugada

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Arrhythmogenic right ventricular cardiomyopathy is an inherited cardiac entity characterized by right ventricular, or biventricular, fibrofatty replacement of myocardium. Structural alterations may lead to sudden cardiac death, mainly in young males during exercise. Autosomal dominant pattern of inheritance is reported in most parts of pathogenic genetic variations identified. Currently, 13 genes have been associated with the disease but nearly 40 % of clinically diagnosed cases remain without a genetic diagnosis. New genetic technologies allow further genetic analysis, generating a significant amount of genetic data in novel genes, which is often classified as of ambiguous significance. We focus on genetic advances of arrhythmogenic right ventricular cardiomyopathy, helping clinicians to interpret and translate genetic data into clinical practice.

Indexed as

Arrhythmogenic Right Ventricular DysplasiaDesmoglein 2Genetic MarkersGenetic Predisposition to DiseaseGenetic TestingGenetic VariationHumansPlakophilinsDesmoglein 2DSG2 protein, humanGenetic MarkersPKP2 protein, humanPlakophilins

Identifiers

What OpenQuestion holds

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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.