Congenital heart disease in CHARGE association

This study reviews the spectrum of congenital heart disease and associated anomalies in 59 patients with the CHARGE association. We have analyzed our clinical experience in managing the cardiovascular anomalies and have reviewed outcome and risk factors for mortality. This study also highlights problems of cardiac management in children born with multiple system involvement. Twenty patients have died; actuarial survival was 78% at 1 year and 60% at 10 years. In only four of the nonsurvivors could their demise be ascribed to their underlying congenital heart disease. We found the outlook for survival was poor if more than one of the following three features were present; cyanotic cardiac lesions, bilateral posterior choanal atresia, or tracheoesophageal fistula. However, mortality was largely due not to the structural heart or choanal abnormalities, but instead reflected the underlying pharyngeal and laryngeal incoordination which resulted in aspiration of secretions. Furthermore, outcome is likely to be improved if collaboration between specialist surgical teams allows necessary procedures to be performed using the minimum of anesthetics. Examination of both the short- and long-term management of these children has stressed the importance of a multidisciplinary approach to their care. The pattern of cardiac defects was not random; lesions within the Fallot spectrum accounted for 33% of their congenital heart disease. Atrioventricular septal defects were also overrepresented. Not all cardiovascular defects could be explained by hypothesizing a neural crest etiology.