Evidence map›Paper›PMID 36890431›Full record

ArticleBMC cardiovascular disorders2023

Prenatal diagnosis of recurrent hypoplastic left heart syndrome associated with MYH6 variants: a case report.

B Najib, T Quibel, A Tessier, J Mortreux, P Bouvagnet, C Cohen, F Vialard, R Dard

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC cardiovascular disorders, 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
0.2field-weighted citation impact, top 46% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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

8 authors at 4 institutions in 2 countries.

B NajibDepartment of Obstetrics and Gynecology, Saint Joseph University, Beirut, 0000, Lebanon.
T QuibelDepartment of Obstetrics and Antenatal Fetal Medicine, Centre Hospitalier Intercommunal de Poissy-Saint-Germain-en-Laye, 78300, Poissy, France.
A TessierDepartment of Genetics, Centre Hospitalier Intercommunal de Poissy-Saint-Germain-en-Laye, 78300, Poissy, France.
J MortreuxService de Génétique, Laboratoire Eurofins Biomnis, 69007, Lyon, France.
P BouvagnetService de Génétique, Laboratoire Eurofins Biomnis, 69007, Lyon, France.
C CohenDepartment of Genetics, Centre Hospitalier Intercommunal de Poissy-Saint-Germain-en-Laye, 78300, Poissy, France.
F VialardDepartment of Genetics, Centre Hospitalier Intercommunal de Poissy-Saint-Germain-en-Laye, 78300, Poissy, France.
R DardDepartment of Genetics, Centre Hospitalier Intercommunal de Poissy-Saint-Germain-en-Laye, 78300, Poissy, France. Rodolphe.Dard@ght-yvelinesnord.fr.ORCID 0000-0001-5878-5064
Centre Hospitalier Intercommunal de Poissy · FRÉcole Nationale Vétérinaire d'Alfort · FREurofins (France) · FRSaint Joseph University · LB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHypoplastic left heart syndrome (HLHS) is a rare but genetically complex and clinically and anatomically severe form of congenital heart disease (CHD). CASE PRESENTATION: Here, we report on the use of rapid prenatal whole-exome sequencing for the prenatal diagnosis of a severe case of neonatal recurrent HLHS caused by heterozygous compound variants in the MYH6 gene inherited from the (healthy) parents. MYH6 is known to be highly polymorphic; a large number of rare and common variants have variable effects on protein levels. We postulated that two hypomorphic variants led to severe CHD when associated in trans; this was consistent with the autosomal recessive pattern of inheritance. In the literature, dominant transmission of MYH6-related CHD is more frequent and is probably linked to synergistic heterozygosity or the specific combination of a single, pathogenic variant with common MYH6 variants.

conclusionsThe present report illustrates the major contribution of whole-exome sequencing (WES) in the characterization of an unusually recurrent fetal disorder and considered the role of WES in the prenatal diagnosis of disorders that do not usually have a genetic etiology.

Indexed as

Heart Defects, CongenitalHeredityHypoplastic Left Heart SyndromeCardiac MyosinsFemaleHumansInfant, NewbornMyosin Heavy ChainsPregnancyPrenatal DiagnosisCardiac MyosinsMYH6 protein, humanMyosin Heavy ChainsCase reportCongenital heart diseaseHypoplastic left heart syndromeMYH6MYH7

Identifiers

PMID36890431
PMCPMC9993643
OpenAlexW4323568474

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Registered trials

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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.