February 7-14 is Congenital Heart Defect (CHD) Awareness Week.  A congenital heart defect is a structural problem with the heart that is present at birth whether caused by genetic or environmental causes.  They can affect the walls of the heart, the valves, or the blood vessels adjacent to the heart, and are the most common type of birth defect affecting about 1% of infants.  These defects can range from mild, a small hole in the heart wall that closes on its own, to severe malformations that can be life-threatening.  About 25% of infants born with CHD will have critical CHD which will require procedures or surgery in the first year of life.  Some CHD can be diagnosed on prenatal ultrasound; others however are diagnosed in infancy during physical examination by a doctor or critical CHD screening.  Critical CHD screening involves pulse oximetry performed in the newborn nursery after 24 hours of life and is required by Virginia law.

Symptoms of CHD include poor feeding, excessive sleepiness, failure to thrive, fast or difficult breathing or blue-tinted gums or lips.  The form of treatment depends on the type of defect, however with advances in medical care many children with complex and critical CHD can lead long productive lives.  Even with treatment some children with CHD are not cured and have a lifelong increased risk of heart disease, thus they need to remain under the care of a cardiologist trained in CHD.

For many infants the cause of CHD is never found.  About 15% of all CHD is related to genetic conditions such as Trisomy 21, Turner Syndrome, DiGeorge Syndrome, and Williams Syndrome.  Other factors that have been found to increase the risk of CHD include maternal obesity, diabetes, alcohol consumption and smoking.  Additionally there are several medications that can increase the risk of CHD such as lithium, Accutane, and some anti-seizure medications so women on these medications who desire to become pregnant should discuss the risks and benefits of medications as well as any increased screening that might be recommended.  For additional information check out https://mendedhearts.org/chd-awareness-week/ and https://www.cdc.gov/ncbddd/heartdefects/index.html

Alaina M. Brown, MD FAAP