321 Congenital heart defects in CHARGE syndrome patients with CHD7 mutations

Abstract

CHARGE syndrome (MIM 214800) consists of a combination of congenital malformations including Coloboma, Heart defects, Atresia of choanae, Retardation of growth and developmental delay, Genital anomalies and Ear anomalies. Diagnosis criteria have been recently refined and several other features have been described such as semi-circular canals and cranial nerve anomalies. A CHD7 gene mutation is found in 60% of patients with a clinical diagnosis of CHARGE syndrome. Although frequently found, cardiovascular malformations (CVM) are not specific.