Congenital Heart Disease (CHD) is a lifelong condition that requires specialized care that is coordinated by the medical home. Due to improved pediatric medical care and the success of surgical repairs, 90% of infants born with CHD are living to adulthood. Co-management between CHD specialists and primary care pediatricians is important to address nutritional needs, exercise tolerance, developmental, behavioral or cognitive concerns and many cardiac- and non-cardiac specific risk factors. Cardiologists that specialize in CHD have advanced training in this area and are better able to recognize health issues associated with the CHD.
Detection of Congenital Heart Disease
CHDs can be detected as early as the prenatal period or as late as adulthood (or escape detection altogether). The more severe the form of CHDs, the more likely it is to be detected earlier. There are a number of tools that can be used to aid in the diagnosis of CHDs, including echocardiogram, electrocardiogram, chest X-ray, chest CT, cardiac MRI and prenatal ultrasound. One or more of these diagnostic tests may be ordered if a healthcare provider finds a reason to suspect that the child has a CHD or if the child fails a newborn screening test.
Newborn screening for critical congenital heart defects
Critical CHDs (CCHDs) are defects that typically result in low oxygen levels in the newborn. Babies with critical CHDs usually require surgery or other procedures in the first year of life. Some examples of critical CHDs include coarctation of the aorta, transposition of the great arteries, hypoplastic left heart syndrome and tetralogy of Fallot.
Newborn screening for critical congenital heart disease uses pulse oximetry to check the level of oxygen in the blood of newborns. This test is painless and non-invasive, which means that nothing is inserted into the newborn. In 2011, critical congenital heart disease was added to the United States Recommended Uniform Screening Panel. It is estimated to prevent approximately 120 infant deaths each year from critical congenital heart disease. As of 2018, policies for screening newborns have been implemented in all states in the U.S. Children who fail this screening can then have further testing to evaluate for congenital heart disease or for other potential causes of low oxygen.
Neurodevelopmental, neurocognitive and psychosocial considerations
CHD is known to have important effects on the brain and brain development, with important ramifications both during childhood and adulthood. People with CHD have a spectrum of such outcomes: many may notice few to no neurodevelopmental or neurocognitive defects, while others may have severe difficulties in life. During childhood, there can be challenges in neurodevelopment and academic achievement in school. Into adulthood, there are various psychosocial considerations such as employment, social relationships or mental health challenges. It is therefore important that individuals with CHD, particularly those with the most severe forms, be screened for neurodevelopmental and neurocognitive challenges and be connected with services that may be of assistance. With awareness, early identification and management of the neurodevelopmental, neurocognitive and psychosocial challenges, the quality of life as perceived by those with CHD can be quite good.
Although mental health challenges certainly do not affect every person with CHD, it has been shown that adults with CHD have a higher incidence of mental health issues than other heart healthy adults. Estimates range from approximately 36% of adults with CHD experiencing a diagnosable psychiatric disorder, with anxiety or depressive symptoms being prominent, to at least 50% of interviewed patients meeting diagnostic criteria for at least one lifetime mood or anxiety disorder. Unfortunately, most adults with CHD “suffer silently and worry alone”, and many are not referred to a mental health professional. According to one study, “approximately, 70% of the patients who met diagnostic criteria at the time of study participation were not engaged in mental health treatment."
Health supervision for non-cardiac conditions
Individuals with CHD are at risk of non-cardiac conditions that may be related to the underlying heart condition or may be sequelae of prior procedures or ongoing physiology. The prevalence of these conditions will differ depending on the underlying CHD and prior procedures. As some of these conditions may have a significant impact on quality of life and/or mortality, it is important for healthcare providers to be aware of these complications related to different CHDs or procedures and to assess patients appropriately. The table below lists some of these potential non-cardiac conditions.
System and Condition
Coordination of care
Pediatric care coordination is a patient- and family-centered, assessment-driven, team-based activity designed to meet the needs of children and youth while enhancing the caregiving capabilities of families and other caregivers. Care coordination and case management reach across medical and nonmedical domains to address interrelated medical, social, developmental, behavioral, educational and financial needs to achieve optimal health and wellness outcomes. Care coordination and case management are essential components of the services provided by members of the patient/family-centered medical home team. Consider the following resources with respect to coordination of care for children w CHD.
- Pediatric Care Coordination Curriculum: An Interprofessional Resource to Effectively Engage Patients and Families Achieving Optimal Health Outcomes, 2nd Edition
- Patient- and Family-Centered Care Coordination: A Framework for Integrating Care for Children and Youth Across Multiple Systems (Turchi RM et. al. Pediatrics, 2014)
Parents, family members and others who care for infants and young children with a CHD need to be aware of the systems and supports available to them. Resources are available to support families/caregivers in assuring comprehensive primary and cardiology care. Support systems may also be accessed to assist with making informed decisions about the educational and leisure/play based activities that may enhance quality of life.
American Academy of Pediatrics