Observed every year during the second week of February, Congenital Heart Defects may sound like a condition that only affects infants. However, congenital heart defects are considered uncurable and represent a lifelong commitment to enhanced health care and monitoring.
Who’s affected
The most common birth defect in the U.S. and South Carolina, congenital heart defects affect nearly 40,000 babies each year (one infant every 15 minutes) or one percent of births, according to the Centers for Disease Control and Prevention and the Children’s Heart Foundation. Not only are they the most common type of birth defect, but they are also the leading cause of infant illness and death due to birth defects.
Deaths most often occur in the first 28 days of life, sometimes referred to as the neonatal period. One-year survival rates reach 97 percent for infants with non-critical heart defects and 75 percent for those with defects deemed critical.
Defined as problems at birth that affect the structure and function of the heart, congenital heart defects require surgery or other interventions during the first year for 25 percent of the babies who have them.
Congenital heart defects affect how blood flows through the heart and out to the rest of the body. Congenital means they are present at birth. Heart defects can vary from mild (a small hole in the heart) to severe (missing parts of the heart).
Though they are sometimes detected during pregnancy through a special ultrasound called a fetal echocardiogram, many congenital heart defects are diagnosed at birth or as the child ages. Genetic and environmental factors may play a role in the development of these defects, but the causes are unknown in 50-60 percent of cases.
Thanks to advances in medical care and treatment, more and more individuals born with congenital heart defects live into adulthood. Ninety-five percent of individuals with non-critical heart defects are expected to live to at least age 18, with 81 percent making it to at least age 35. For those with critical heart defects, those estimates are 75 percent (to at least age 18) and 69 percent (to at least age 35).
Death rates have plummeted by nearly 40 percent in the last decade and a half, and today an estimated two to three million children and adults live with the condition in the U.S. Though the prevalence of some types of heart defects have remained stable, others, especially mild types, are increasing.
During the early years, children with congenital heart defects are more likely to have specialized health care needs, such as physical/speech therapy, medication, breathing challenges, and other heart issues. As they grow into school age, they are 50 percent more likely to receive special education services.
Though adults with congenital heart defects are living longer lives, they are more likely to have other cardiovascular conditions such as heart failure or stroke. They are also more likely to have a disability, with cognitive challenges (e.g., concentration, decision-making) as the most common type.
The nationwide financial toll is approximately 10 billion annually for hospital costs alone, according to 2019 reports. Much of this burden falls on families, with additional expenses due to increased caregiving, reduced ability to work, decreased mental health, and other challenges.
What to do
At the state level, partners across South Carolina have been working to address the condition and improve outcomes for those it affects. In 2004, the state legislature passed the South Carolina Birth Defects Act, which subsequently established the South Carolina Birth Defects Program two years later.
Led by the Department of Public Health (formerly DHEC), the program provides statewide surveillance of more than 50 major birth defects recommended by the CDC that are identified during pregnancy and up to age two. Their monitoring efforts alert researchers, clinicians, and other stakeholders to the most common types of birth defects faced by South Carolinians. This work has revealed 150-200 cases of Critical Congenital Heart Defects, the type that requires surgery during the first year of life, among babies born in South Carolina each year.
Funding from the CDC, including a $2 million grant awarded to just six groups in the U.S., led to a partnership between the Medical University of South Carolina, Prisma Health, Greenwood Genetic Center, USC School of Medicine, and the SC Revenue and Fiscal Affairs Office. Specifically focused on congenital heart defects, this five-year grant has enabled cardiologists and researchers to conduct research to assess genetic risk factors and the health care services used by this population.
The program also provides prevention and intervention resources. Based on current guidelines, they recommend healthy lifestyle choices for women who are child-bearing age as many birth defects occur before pregnancy is known. A diverse and nutrient-rich diet, regular exercise science, taking 400 micrograms of folic acid daily, regular visits to a health care provider, avoiding tobacco, alcohol and drugs, preventing infections through vaccinations, and managing chronic diseases, such as high blood pressure and diabetes, are all recommended.
Early detection through regular prenatal care and newborn screenings allows for early intervention, which is critical for survival and optimal health outcomes. The severity of the defect, the presence of other conditions, and treatment methods are also important factors.
Finding support
The South Carolina Birth Defects Program connects families with prevention and intervention services from preconception and beyond, including genetic counseling and pediatric cardiologists, by working with several other state-based programs.
BabyNet, which is housed in the SC Department of Health and Human Services, serves children from infancy to age three, and the SC Department of Disabilities and Special Needs’ Early Intervention Program focuses on children ages three to six. Together, they serve more than 11,000 children using a family-centered approach. Children may also be eligible to receive services from Children and Youth with Special Health Care Needs (CYSHCN) Section at the Department of Public Health. CYSHCN provides information, referrals, and care coordination. It also offers financial assistance for medical services, supplies, and equipment for youth under 18 through the Healthy Connections Medicaid program.
The Department of Public Health provides services for people up to the age of 21. Hospitals and health care systems such as Prisma Health, MUSC, Lexington Medical Center, Aiken Regional Medical Center, Novant Health, and others, have specialties and programs dedicated to serving adults with congenital heart defects. State-based agencies continue to offer support through various programs, primarily through Medicaid.
To learn more or get involved with volunteering or fundraising opportunities, visit The Children’s Heart Foundation website.