[Supravalvular aortic stenosis. Autosomal dominant form of congenital cardiopathy].
We describe a family in which two generations are affected: two brothers and one of their maternal uncles. One of their two half-sisters (same mother) is also suspected of having the same cardiopathy. This observation confirms the autosomal dominant transmission of the disease and shows its variable expressivity in the family under study.
Pierquin
G
G
Service de Génétique Humaine, Université de Liège, Belgique.
Vliers
A
A
Dodinval
P
P
D001020:Aortic Stenosis, Subvalvular / Q000175:diagnosis / Q000235:genetics*; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D005799:Genes, Dominant; D005817:Genetic Counseling; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree
La sténose aortique supravalvulaire forme dominante autosomique de cardiopathie congénitale.