Further Studies of Patients with the Cardiofacial Syndrome

¹ Departments of Pediatrics and Pathology, Sutter Community Hospitals and the Sutter Hospitals Medical Research Foundation, Sacramento, California

This article reports 30 cases of the cardiofacial syndrome (unilateral partial lower facial weakness and congenital heart disease). Fifteen of these infants had serious cardiac anomalies which resulted in congestive failure. Nineteen had abnormalities of other systems. Chromosome studies of 11 patients and seven controls showed no change which was specific for the cardiofacial syndrome. Viral studies in five babies and four of their mothers gave negative results. Since 1966, 5 percent to 10 percent of babies with congenital heart disease seen at our center have had associated facial weakness. At present, the etiology of the syndrome remains obscure; however, it is speculated that the etiology is related to a subclinical viral infection during the fifth or sixth week of gestation and may result from the close spatial relationship of the developing hyoid arch to the cardiac primordium and the close temporal relationship of facial innervation to cardiac septation.