Evidence map›Paper›PMID 41165794›Full record

ArticlePediatric cardiology2026

MYH6 in Congenital Heart Defects: A Genotype-Phenotype Characterization in a French Cohort.

Elise Daire, Clément Sauvestre, Antoine Moktadir, Patrice Bouvagnet, Anne-Claire Brehin, Julie Chabaneix, Walaa Darwiche, Sabine Dirani, Olivia Domanski, Evan Gouy and 11 more

Abstract read
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In one paragraph

Article in Pediatric cardiology, 2026. 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. 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

21 authors.

Elise DairePediatric Cardiology Department, Amiens University Hospital, Amiens, France. daire.elise@chu-amiens.fr.
Clément SauvestreUniv. Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, 33000, Bordeaux, France.
Antoine MoktadirPediatric Cardiology Department, Amiens University Hospital, Amiens, France.
Patrice BouvagnetMartinique University Hospital, Hôpital MFME, CPDPN, Fort-de-France, Martinique, France.
Anne-Claire BrehinDepartment of Anatomy and Pathological Cytology, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, 76000, Rouen, France.
Julie ChabaneixMedical and Surgical Unit for Congenital Heart Diseases in the Fetus, Child and Adult, ATENA Registry - Congenital Anomalies in Nouvelle-Aquitaine, Bordeaux University Hospital, Bordeaux, France.
Walaa DarwicheEA4666 HEMATIM, University of Picardie-Jules Verne, Amiens, France.
Sabine DiraniPediatric Cardiology Department, Amiens University Hospital, Amiens, France.
Olivia DomanskiPediatric Cardiology Department, Lille University Hospital, Lille, France.
Evan GouyDepartment of Clinical Genetics, Lyon University Hospital, Lyon, France.
Alexis HermidaEA4666 HEMATIM, University of Picardie-Jules Verne, Amiens, France.
Médéric JeanneDepartment of Clinical Genetics, Tours University Hospital, Tours, France.
Florence JobicEA4666 HEMATIM, University of Picardie-Jules Verne, Amiens, France.
Kevin JousselinLaboratoire de biologie médicale multi sites SeqOIA, Paris, France.
Sophie JuliaFederative Institute of Biology, Toulouse University Hospital, Toulouse, France.
Luisa MarsiliUniversité de Lille, ULR7364 RADEME, Hôpital Universitaire de Lille, Service de Génétique Clinique, Lille, France.
Kahia MessaoudiEA4666 HEMATIM, University of Picardie-Jules Verne, Amiens, France.
Vincent MichaudUniv. Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, 33000, Bordeaux, France.
Isabelle PerthusDepartment of Clinical Genetics, Clermont-Ferrand Estaing University Hospital Center, Clermont Ferrand, France.
Caroline RooryckUniv. Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, 33000, Bordeaux, France.
Guillaume JedraszakEA4666 HEMATIM, University of Picardie-Jules Verne, Amiens, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital heart defects (CHD) are among the most frequent congenital anomalies and represent a significant source of morbidity and mortality in infants. Both genetic and environmental factors are involved, and variants in the MYH6 are potential major genetic factors. The objective of the present study was to describe cardiac phenotypes in individuals with CHD and MYH6 variants. We included individuals with CHD and a MYH6 variant identified in four French genetics laboratories. Clinical and family data were collected. Of the 29 individuals included, 20 (68.9%) had a principal phenotype of left heart defect: hypoplastic left heart syndrome (n = 11, 37.9%), left heart obstruction at multiple sites (n = 6, 20.7%), and coarctation of aorta (n = 3, 10.3%). Nine individuals (31%) had other CHD, such as tetralogy of Fallot, pulmonary stenosis, and septal defects. Prevalence of persistent left superior vena cava (LSVC) was much higher here (n = 11, 37.9%) than in literature (0.31-5.9%). Most of the 19 MYH6 variants were heterozygous, missenses, and inherited. Family screening demonstrated incomplete penetrance and variable phenotypic expressivity. MYH6 variants are associated with various CHD with a predominance of left heart defects and persistent LSVC. Our findings support broad indication for the molecular screening of MYH6 in CHD-particularly when familial recurrence is uncertain.

Indexed as

Cardiac MyosinsHeart Defects, CongenitalMyosin Heavy ChainsChild, PreschoolFemaleFranceGenetic Association StudiesGenotypeHumansInfantInfant, NewbornMaleMutationPhenotypeCardiac MyosinsMYH6 protein, humanMyosin Heavy ChainsGenotype–phenotype correlationHeart defects, congenitalHypoplastic left heart syndromeMYH6Persistent left superior vena cava

Identifiers

PMID41165794

What OpenQuestion holds

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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.