Evidence map›Paper›PMID 37589201›Full record

ArticleJournal of the American Heart Association2023

Cardiac Genetic Investigation of Sudden Infant and Early Childhood Death: A Study From Victims to Families.

Maria-Christina Kotta, Margherita Torchio, Pauline Bayliss, Marta C Cohen, Oliver Quarrell, Nigel Wheeldon, Tamás Marton, Davide Gentilini, Lia Crotti, Robert C Coombs and 1 more

Open access · goldAbstract read
In one paragraph

Article in Journal of the American Heart Association, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 1 pooled it
3.1field-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

9 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.

  1. Guideline
  2. Review
  3. Article
  4. Review
  5. Article
  6. Review
  7. Article
  8. Autopsy of all young sudden death cases is important to increase survival in family members left behind.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2024
    Review
  9. 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

11 authors at 5 institutions in 2 countries.

Maria-Christina KottaCenter for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics IRCCS Istituto Auxologico Italiano Milan Italy.ORCID 0000-0001-9629-2172
Margherita TorchioCenter for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics IRCCS Istituto Auxologico Italiano Milan Italy.
Pauline BaylissDepartment of Clinical Genetics Sheffield Children's NHS Foundation Trust Sheffield United Kingdom.
Marta C CohenDepartment of Histopathology Sheffield Children's NHS Foundation Trust Sheffield United Kingdom.ORCID 0000-0001-5534-444X
Oliver QuarrellSheffield Children's Hospital NHS Foundation Trust Sheffield United Kingdom.ORCID 0000-0002-3818-9051
Nigel WheeldonCardiothoracic Centre Northern General Hospital, Sheffield Teaching Hospitals NHS Trust Sheffield United Kingdom.
Tamás MartonCellular Pathology Department Birmingham Women's and Children's Hospital Birmingham United Kingdom.ORCID 0000-0001-5585-2276
Davide GentiliniBioinformatics and Statistical Genetics Unit IRCCS Istituto Auxologico Italiano Milan Italy.
Lia CrottiCenter for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics IRCCS Istituto Auxologico Italiano Milan Italy.ORCID 0000-0001-8739-6527
Robert C CoombsDepartment of Neonatology Sheffield Teaching Hospitals. NHS Trust Sheffield United Kingdom.
Peter J SchwartzCenter for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics IRCCS Istituto Auxologico Italiano Milan Italy.ORCID 0000-0003-0367-1048
IRCCS Istituto Auxologico Italiano · ITSheffield Children's NHS Foundation Trust · GBBirmingham Women's Hospital · GBNorthern General Hospital · GBSheffield Teaching Hospitals NHS Foundation Trust · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background Sudden infant death syndrome (SIDS) is the leading cause of death up to age 1. Sudden unexplained death in childhood (SUDC) is similar but affects mostly toddlers aged 1 to 4. SUDC is rarer than SIDS, and although cardiogenetic testing (molecular autopsy) identifies an underlying cause in a fraction of SIDS, less is known about SUDC. Methods and Results Seventy-seven SIDS and 16 SUDC cases underwent molecular autopsy with 25 definitive-evidence arrhythmia-associated genes. In 18 cases, another 76 genes with varying degrees of evidence were analyzed. Parents were offered cascade screening. Double-blind review of clinical-genetic data established genotype-phenotype correlations. The yield of likely pathogenic variants in the 25 genes was higher in SUDC than in SIDS (18.8% [3/16] versus 2.6% [2/77], respectively;

Indexed as

ChannelopathiesSudden Infant DeathAutopsyChild, PreschoolHeartHumansPhysical Examinationchannelopathiesmolecular autopsysudden infant death syndromesudden unexplained death in childhood

Identifiers

PMID37589201
PMCPMC10547337
OpenAlexW4385898419

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.