Nursing Care of Infants and Children With Congenital Heart Disease and Associated Genetic Conditions

Lauren T. Cobert


Pediatr Nurs. 2019;45(2):75-85. 

In This Article

Nursing Implications

Understanding the cardiac and extra-cardiac anomalies that accompany CHARGE syndrome, 22q11.2 deletion syndrome, and VACTERL association can have a profound impact on the medical management and outcomes of infants and children diagnosed with these defects. Children with CHD already risk poor neurodevelopmental outcomes, and a co-occurring genetic condition can independently confer an additive negative effect on this (Wernovsky & Licht, 2016). When a major congenital anomaly like CHD is diagnosed, it should raise suspicion for additional congenital anomalies. Nursing assessment of pediatric patients should always incorporate a dysmorphology examination, with a focus on the child's growth and development, behavior, general appearance, head, face, hands and feet, skeletal structures, genitalia, and anus. Pediatric nurses should feel empowered to perform detailed assessments, report abnormalities to the multidisciplinary team, and advocate for appropriate referrals and therapies. Obtaining a detailed family history upon hospital admission/clinic visit is just one method nurses can use to identify appropriate candidates for referral to genetic services (Calzone, Jenkins, Culp, Caskey, & Badzek, 2014).

Pediatric nurses are encouraged to actively engage in genomic research and education. There is a wide variety of genetic resources available on the Internet. Table 2 contains a list of selected articles and websites that can be especially useful at point of care. Nurses and healthcare organizations should also work to integrate genomic competencies into bedside practice because this has the potential to stratify risk, optimize patient outcomes, and ultimately, improve patient quality/duration of life (Calzone, Jenkins, Culp, & Badzek, 2018; Jenkins et al., 2015). The Essentials is the gold standard for practicing nurses to achieve competency in genomics (Consensus Panel on Genetic/Genomic Nursing Competencies, 2009). Additionally, nurses can support patients and families with education, resources, and anticipatory guidance specific to these conditions, as outlined in Table 3.