Implication potentielle de la triplication du gène EDNRA codant pour le récepteur ET-A de l’endothéline 1 chez un fœtus porteur de hernie de coupole diaphragmatique

Abstract

Congenital diaphragmatic hernia has a physiopathology unfully understood, and is the cause of an important morbimortality. We report the case of a fetus suffering from a diaphragmatic hernia associated with a EDNRA gene triplication, coding for the endothelin 1 receptor. High-resolution genetic techniques were able to find the possible origin of this pathology, and showed that it was an isolated form with a good prognostic. ET-A receptor over-expression in lung vessels may cause a vascular remodeling and a lung arterial high blood pressure. This lung abnormality would have occurred before the diaphragmatic defect.