[Role of molecular biology in understanding the formation of congenital cardiomyopathies in humans].
New insights into the genetics of congenital heart diseases in human beings have been obtained these past years. The identification of genes for heart defects have led to a new clinical approach of these malformations in children and their families. These progresses have been made by means of positional cloning as well as through the analysis of mouse models. These findings uncovered a new complexity in the development of cardiac defects and led to revise the different classifications for congenital heart defects. Pediatric cardiologists have also improved their efficiency in defining cardiac phenotypes in affected individuals and in pedigrees with recurrent malformations. At the present time, clinical consequences of these findings remain sparse, though in particular cases genetic counselling has been dramatically improved.
Bonnet
Damien
D
Service de Cardiologie Pédiatrique, Hôpital Necker Enfants Malades, 149, rue de Sèvres, 75743 Paris.
D009202:Cardiomyopathies / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D008967:Molecular Biology / Q000379:methods / Q000639:trends*; D010641:Phenotype