congenital heart defects

by James P Kyser, M.D.

Critical congenital heart defects (CCHDs) are serious structural heart defects that occur in a very small number of newborns (the CDC estimates about 7,200 each year in the U.S.). CCHDs are the culprit of about 30 percent of infant deaths.

CCHDs make up around 25 percent of all congenital heart defects, and often require surgery very early in life. The diagnosis of CCHDs requires the right kinds of screening. Without proper screening, newborns might be misdiagnosed or not diagnosed at all. CCHDs can be picked up on routine obstetrical ultrasounds that almost all pregnant women have. But not all CCHDs are obvious before or after delivery, and it’s possible that a newborn could leave the hospital without being diagnosed. The consequences of this can be disastrous. Depending on the type and severity of the CCHD, these defects can be fatal or lead to serious problems.

Utilizing pulse oximetry screening, more infants can be diagnosed with a range of CCHDs before they get sick. These screening looks at seven major defects: hypoplastic left heart syndrome, tetralogy of Fallot, pulmonary atresia with intact septum, transposition of the great arteries, total anomalous pulmonary venous return, truncus arteriosus and tricuspid atresia. Five additional, secondary, diagnoses include double outlet right ventricle, coarctation of the aorta, Ebstein’s anomaly, single ventricle and interrupted aortic arch.

While each of these defects is a mouthful to pronounce, the actual screening process for CCHDs is pretty simple. A portable, non-invasive device called a pulse oximeter can quickly measure the oxygen level in an infant’s blood. If an abnormal reading occurs, the infant is referred for an echocardiogram, or ultrasound of the heart, which is interpreted by a pediatric cardiologist. The heart may actually be normal, (a ‘false positive’ screen), but if it is abnormal then the pediatric cardiologist and the providers taking care of the newborn will come up with an action plan.

It’s important to note that this screening doesn't take the place of routine exams, and not all types of CCHDs can be uncovered with this screening. However, the actual cost of this screening is relatively low. Sometimes a simple $15 screening can save a life.