Nursing Care of Infants and Children With Congenital Heart Disease and Associated Genetic Conditions
Lauren T. Cobert
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.