Article
MYH6 in Congenital Heart Defects: A Genotype-Phenotype Characterization in a French Cohort.
Pediatric cardiology - 1 Aug 2026
Daire Elise, Sauvestre Clément, Moktadir Antoine, Bouvagnet Patrice, Brehin Anne-Claire, Chabaneix Julie, Darwiche Walaa, Dirani Sabine, Domanski Olivia, Gouy Evan, Hermida Alexis, Jeanne Médéric, Jobic Florence, Jousselin Kevin, Julia Sophie, Marsili Luisa, Messaoudi Kahia, Michaud Vincent, Perthus Isabelle, Rooryck Caroline, Jedraszak Guillaume
Abstract excerpt
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...
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