Story by: Norton Children’s on January 8, 2021
Undetected congenital heart defects (CHD) are rare, but some babies can grow into adolescence or early adulthood before noticing any symptoms.
Congenital heart defects affect nearly 1 out of every 100 babies born in the United States, according to the Centers for Disease Control and Prevention. About a quarter of those need surgery before their first birthday.
Milder septal defects (commonly referred to as a hole in the heart), subaortic stenosis (a restriction on blood pumping out of the left ventricle to the rest of the body), mitral valve prolapse or bicuspid aortic valve can go unnoticed.
“Congenital heart disease requires a cardiologist for life due to known cardiovascular conditions that otherwise may not produce significant symptoms until they become serious,” said Melissa L. Perrotta, M.D., cardiologist and co-medical director of the adult congenital heart disease program at Norton Children’s Heart Institute, affiliated with the UofL School of Medicine.
Dr. Perrotta is also an assistant professor of pediatrics at the University of Louisville.
“Patients with congenital heart disease can achieve not only better health, but a better quality of life,” she said.
In the past 10 years, screening newborns for critical congenital heart disease has become commonplace, and by 2018, states nationwide had implemented screening policies. Kentucky started mandating screening of all newborns in 2014.
Increasingly sophisticated fetal echocardiograms are also an important tool in spotting congenital heart defects.
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For many adults, the first sign of an undetected congenital heart defect is shortness of breath, especially during exercise. Other signs can include heart palpitations, fainting or cyanosis — a bluish color to the lips and nailbeds in light-skinned people. In those with dark skin, cyanosis may be more noticeable in the gums and around the eyes than the lips and nails.
Examples of congenital heart defects that can go undetected until adulthood