I. DEVELOPMENT OF THE HEART
Several anomalies may result from defects in the basic cardiac developmental pattern. Table 2 gives teratogenic agents in humans. Lithium plays a role in Ebstein’s anomaly and tricuspid atresia. Dilantin is known to cause pulmonary stenosis, aortic stenosis, coarctation, and patent ductus arteriosus. Rubella is a known cause of patent ductus arteriosus, atrial septal defects, and ventricular septal defects as well as other anomalies.
During the past decade workers have identified several myogenic determination genes and factors involved in the regulation of muscle gene expression. Gene regulation in the heart is still poorly understood and fruitful research is on the horizon. A single gene mutation is causative in the familial forms of atrial septal defect, mitral valve prolapse, ventricular septal defect, situs inversus, Noonan syndrome, Holt-Oram syndrome, and Marfan syndrome as well as other anomalies.