Evidence map›Paper›PMID 41280527›Full record

ArticleHeart rhythm O22025

Clinical presentation and outcomes of patients with biallelic

Elodie Surget, Alexis Hermida, Alice Maltret, James Marchant, Isabelle Denjoy, Laure Champ-Rigot, Estelle Gandjbakhch, Charles Morgat, Alessandra Pia Porretta, Véronique Fressart and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Heart rhythm O2, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

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

1 citing paper in PubMed.

  1. Genetic loci responsible for atrioventricular block in children.Frontiers in cell and developmental biology · 2026
    Review
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

12 authors.

Elodie SurgetReference Center for Inherited Arrhythmic Syndromes, Hôpital Bichat, APHP, Université Paris Cité, Paris, France.
Alexis HermidaCentre hospitalier universitaire Amiens-Picardie, CHU Amiens, Amiens, France.
Alice MaltretDepartment of Congenital Heart Diseases, M3C-Marie Lannelongue, Hôpital Marie Lannelongue, Groupe Hospitalier Paris Saint Joseph, Le Plessis Robinson, France.
James MarchantDevelopment, Aging and Regeneration Program, Center for Genetic Disorders and Aging Research, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.
Isabelle DenjoyReference Center for Inherited Arrhythmic Syndromes, Hôpital Bichat, APHP, Université Paris Cité, Paris, France.
Laure Champ-RigotNormandie Univ, UNICAEN, CHU de Caen Normandie, Service de Cardiologie, Caen, France.
Estelle GandjbakhchDepartment of Cardiology, La Pitié-Salpêtrière Hospital, Paris, France.
Charles MorgatReference Center for Inherited Arrhythmic Syndromes, Hôpital Bichat, APHP, Université Paris Cité, Paris, France.
Alessandra Pia PorrettaReference Center for Inherited Arrhythmic Syndromes, Hôpital Bichat, APHP, Université Paris Cité, Paris, France.
Véronique FressartAPHP, Referral Center for Cardiac Hereditary Diseases, Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France.
Antoine LeenhardtReference Center for Inherited Arrhythmic Syndromes, Hôpital Bichat, APHP, Université Paris Cité, Paris, France.
Fabrice ExtramianaReference Center for Inherited Arrhythmic Syndromes, Hôpital Bichat, APHP, Université Paris Cité, Paris, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Heterozygous Objective: The purpose of this study was to systematically review the clinical characteristics, outcomes, and genotype-phenotype correlations in patients with biallelic Methods: We reviewed the available literature on patients with biallelic Results: A total of 33 articles were selected, comprising 61 patients from 43 families. Most were symptomatic at diagnosis (29/36, 81%), with common presentations including syncope (15/36, 42%) and cardiac arrest (10/36, 28%). Sinus node dysfunction was the most prevalent phenotype (35/54, 65%), often associated with atrial standstill (20/34, 59%). Other electrocardiographic abnormalities included progressive cardiac conduction disease (17/52, 33%), Brugada syndrome (12/52, 23%), overlap phenotypes (7/52, 13%), and long QT syndrome (2/52, 4%). During follow-up (median 5 ± 7 years), arrhythmias were common, and 76% (39/51) of patients required device implantation. Major cardiac events occurred in 50%, and 15% (8/55) died at a young age (mean 9 ± 15 years). Genotype analysis revealed 21 patients with homozygous Conclusion: Patients with biallelic

Indexed as

Atrial standstillBrugadaSCN5AStrokeSudden death

Identifiers

PMID41280527
PMCPMC12635737

What Socratic holds

Textmetadata
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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 Socratic graph.