Cardiofacial syndrome congenital heart disease and facial weakness, a hitherto unrecognized association

Abstract

Fourteen patients are reported with congenital heart disease and unilateral partial facial weakness involving only the lip depressors. These cases were observed over a 16-month period and were born between August 1965 and May 1967. All were born within a 100-mile radius of Sacramento, and 9 were conceived during the summer months of 1965 and 1966. All but 2 had ventricular septal defects or anomalies which included ventricular septal defects. 10 had other major system anomalies. Viral studies were negative in 3 patients except for poliomyelitis virus recovered in the stool of one previously immunized infant. Chromosomal studies in 3 showed a high frequency of breaks of the terminal portions of the long arms of many chromosomes. Though there was no constancy as to group, pair No. 3 of group A was affected more than others. The association of cardiac and facial anomalies may be related to the proximity of the hyoid arch to the cardiac primordium and/or to the chronologically close embryonic development of facial innervation and cardiac septation. It is postulated that the syndrome may be due to a subclinical viral infection occurring in the mother during the 5th week of pregnancy. The facial weakness is partial and not apparent while the infant is quiet and at rest. Since 9 of our 14 cases had serious cardiac anomalies, 8 developing congestive heart failure, the physician is urged to examine all newborns very carefully for this subtle facial sign, and to be highly suspicious of a major cardiac anomaly in newborns who show unilateral partial facial weakness of the lower lip depressors.