Abstract and Introduction
Nurses providing direct patient care at the bedside spend the most time with patients across healthcare providers, and therefore, may be first to recognize subtle dysmorphic features in infants and children with congenital heart disease (CHD) and potentially undiagnosed genetic conditions. A child with a few major congenital anomalies and/or several minor congenital anomalies should raise suspicion of a genetic disorder. This article defines and illustrates assessment findings and nursing management of three genetic conditions associated with CHD: CHARGE syndrome, 22q11.2 deletion syndrome, and VACTERL association. Being equipped with a strong understanding of these anomalies allows pediatric nurses to better communicate abnormal physical examination findings to the healthcare team and advocate for appropriate referrals. Facilitating early diagnosis and management can reduce complications and improve patient outcomes. Additionally, nurses should be prepared to provide patients and families with support and education related to these diseases and their long-term sequalae.
Congenital heart disease (CHD) is the most common type of birth defect, affecting nearly 1% of babies born in the United States per year (Centers for Disease Control and Prevention [CDC], 2018a). CHD is also the leading cause of birth defect-associated infant morbidity and mortality (CDC, 2018a). Many infants and children with CHD are also diagnosed with genetic conditions. Recognition of dysmorphic features is challenging when dysmorphisms are subtle or have not fully manifested phenotypically. Nurses providing direct patient care at the bedside spend more time with patients than any other healthcare provider, and are, therefore, ideally positioned to identify patterns of major and minor congenital anomalies associated with specific genetic disorders. Early recognition and diagnosis of a genetic disorder can inform targeted testing, prevent secondary morbidity and mortality, and direct patient and family education.
This article illustrates assessment findings and management of three genetic disorders associated with CHD: CHARGE syndrome, 22q11.2 deletion syndrome, and VACTERL association. Each disorder will be described by its etiology/genetics, clinical features, diagnosis, management, and implications for nursing care. Table 1 defines common dysmorphology terminology used throughout the text.
Pediatr Nurs. 2019;45(2):75-85. © 2019 Jannetti Publications, Inc.