Critical congenital heart diseases (CCHD) are a group of severe forms of congenital heart defects (CHD). CCHD happens when a baby’s heart does not develop normally before birth. Although it is rare, affecting only 2-3 of every 10,000 babies born, CCHD can quickly lead to serious illness and death in the first few days of life. Sometimes, CCHD may be found early in pregnancy by a special ultrasound, but many babies are diagnosed after they are born. Symptoms may include being very sleepy, poor feeding, pounding heart, weak pulse and bluish skin color. However, many babies appear healthy until they become critically ill.
CCHD may be genetic or environmental. If the cause is genetic, it may be due to a mutation (change) to a gene or genes that affect how the heart is formed. Changes in the gene(s) mean one or more proteins needed for the heart to develop will be missing or not working correctly. CCHD may sometimes be part of a syndrome with other birth defects. Environmental causes of CCHD include an infection during the pregnancy or certain medication taken by the mother during pregnancy.
A newborn baby can be tested for CCHD using pulse oximetry. This kind of test measures the level of oxygen in a baby’s blood, which helps determine how well the heart is functioning. CCHD will be confirmed by special tests such as an echocardiogram. Treatment may include surgery to fix any structural problems in the heart. The heart may be needed to be checked throughout adult life. Many babies are screened for CCHD at birth, but the newborn screening conditions vary by state. For more information, visit Baby’s First Test.. If your baby is diagnosed with CCHD, talk with your baby’s heart specialist about the most current treatment options. Genetic counselors and support groups are also good sources of information.