Cardiac care of children with common genetic syndromes: a practical review for pediatricians and pediatric cardiologists

Abstract

Genetic syndromes are an important consideration in pediatric cardiac care because the specific syndrome can influence the likelihood of particular cardiac anomalies, timing and nature of cardiac evaluation, imaging modality, pulmonary hypertension risk, anesthesia planning, and intensity of subsequent surveillance. This review covers the evaluation and management of children with Down syndrome, 22q11.2 deletion syndrome, Turner syndrome, Noonan syndrome and related RASopathies, Williams syndrome, Marfan syndrome and Loeys-Dietz syndrome, Duchenne muscular dystrophy, and several less common genetic syndromes of high yield. Each section focuses on clinical and epidemiologic features, typical entry points into cardiac evaluation, timing of evaluation, minimum cardiac evaluation, stabilization or disposition tier, management modifiers, and criteria for escalation of care. A practical principle that guides this review is that the cardiac findings define acuity, whereas the genetic findings define what to look for, how long to follow the child, and whether normal baseline imaging ends surveillance. Newborn echocardiography is indicated in children with Down syndrome; conotruncal or arch anomalies should prompt consideration of 22q11.2 deletion syndrome; Turner syndrome requires lifelong aortic and blood pressure surveillance; Williams syndrome requires arteriopathy and anesthesia-risk assessment; and Duchenne muscular dystrophy requires presymptomatic cardiomyopathy surveillance.