A Genetic Etiology Identified for a Form of Familial Polyvalvular Dysplasia.

Lauren M McKinney, Mariah C Clark, Alexander R Ellis, Samantha A Schrier Vergano

Abstract readCase Reports

In one paragraph

Article in JACC. Case reports, 2023. 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.

Polyvalvular dysplasia related to haploinsufficiency of the TAB2 gene in Indian children - A disease with need for careful follow-up.Annals of pediatric cardiology
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

4 authors.

Lauren M McKinneyEastern Virginia Medical School, Department of Pediatrics, Norfolk, Virginia, USA.

Mariah C ClarkChildren's Hospital of the King's Daughters, Division of Medical Genetics, Norfolk, Virginia, USA.

Alexander R EllisEastern Virginia Medical School, Department of Pediatrics, Norfolk, Virginia, USA.

Samantha A Schrier VerganoEastern Virginia Medical School, Department of Pediatrics, Norfolk, Virginia, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This case presents a family with multiple individuals diagnosed with congenital heart disease (CHD) secondary to a novel TAK1-binding protein 2 pathogenic variant. This case advocates the use of cardiovascular genetic testing in individuals with CHD as part of a comprehensive approach to managing infants with CHD. (

Indexed as

cardiogeneticscongenital heart defectsgenetic counselingpolyvalvular dysplasiaTAK1-binding protein 2

Identifiers

PMID37152704

DOI10.1016/j.jaccas.2023.101837

PMCPMC10157145

What OpenQuestion holds

Textmetadata

LicenceCC BY-NC-ND

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.