Most Common Birth Defect: Congenital Heart Disease
By Khalisa Syeda, DO, Pediatric Cardiologist - Dothan Pediatric Clinic
Congenital Heart Disease (CHD) affects 1% of all children born in the nation, which roughly accounts for 40,000 infants annually in the United States.
Congenital Heart Disease can be described as a problem with the structure of the heart present at birth and includes problems as simple as narrowed vessels and holes in the heart all the way to complex rearrangement of various connections within the heart. While most children born with CHD live to adulthood, a substantial portion require surgery early in life. Surgical centers that have the expertise and experience to manage these complex problems in infants and children are available at most children’s hospitals throughout the country but are not present everywhere.
It is not fully understood what causes CHD. While there are genetic disorders that have associations with specific CHD types, most commonly it is not possible to identify the cause. Common risk factors include maternal diabetes with poor control during pregnancy and perinatal exposure to smoking and other infections. While there is a strong tendency for CHD to recur within families, infants who have a first- degree relative with CHD are three times more likely to develop CHD themselves.
For these reasons, as well as the high rate of complications in undiagnosed or untreated CHD, it is important to identify CHD earlier in life. Primary care physicians identify the need for cardiac evaluation based on a physical exam that shows signs of a heart murmur, bluish discoloration, or problems with perfusion.
Because these findings are not always present, most centers that work with infants and newborns complete a CHD screen prior to discharging baby home after birth. Also, with improvements in ultrasound technology, it has become possible to perform a detailed ultrasound of an infant’s heart before birth. Both advances have made it possible to diagnose CHD prior to onset of symptoms, further strengthening the importance of early identification.
The treatment of CHD is as varied and diverse as this group of diseases. For certain specific diseases, the management may involve surveillance over the child’s lifetime with no need for surgery or invasive procedures until adulthood. Certain conditions require surgery immediately after birth and may also require cardiac catheterization or reoperations during childhood. Either way, both groups require follow-up with physician teams familiar with congenital heart disease during their lifetime. As more patients become survivors of CHD, there is a growing population of adults with CHD who develop cardiac problems commonly seen in an aging population.
While the prospect of possible cardiac disease in your child can be frightening, understanding your medical and family histories can better help us understand the risk. For those diagnosed and living with CHD, it is important to have a good understanding of the diagnosis and its long-term implications while maintaining consistent follow-up with your pediatric cardiologist.