Published online April 1, 2008
PEDIATRICS Vol. 121 No. 4 April 2008, pp. 751-757 (doi:10.1542/peds.2007-0421)
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ARTICLE

Epidemiologic Features of the Presentation of Critical Congenital Heart Disease: Implications for Screening

Amy H. Schultz, MD, MSCEa,b, A. Russell Localio, PhDb,c, Bernard J. Clark, MDa, Chitra Ravishankar, MDa, Nancy Videon, RN, BSNe and Stephen E. Kimmel, MD, MSCEb,d

Departments of a Pediatrics
c Biostatistics and Epidemiology
d Medicine
b Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania
e Children's Hospital of Philadelphia, Philadelphia, Pennsylvania

OBJECTIVE. Critical congenital heart disease has been proposed as a target of newborn screening. This study aimed to define the incidence and timing of significant physiologic compromise attributable to critical congenital heart disease as well as the distribution of vulnerable lesions. These descriptive parameters must be defined to evaluate the impact and feasibility of any proposed screening strategy.

METHODS. A retrospective cohort study of neonates who had critical congenital heart disease and were admitted to a single institution was conducted. Critical congenital heart disease was defined as congenital heart disease that required invasive intervention or resulted in death in the first 30 days of life. Significant physiologic compromise was defined by severe metabolic acidosis, seizure, cardiac arrest, or laboratory evidence of renal or hepatic injury before invasive intervention. Significant physiologic compromise was classified as potentially preventable when it occurred as a result of undiagnosed congenital heart disease after 12 hours of life.

RESULTS. Significant physiologic compromise occurred in 76 (15.5%) of 490 patients, and potentially preventable significant physiologic compromise occurred in 33 (6.7%) of 490 patients. Most (83%) significant physiologic compromise as a result of unrecognized congenital heart disease occurred after 12 hours of age. A total of 90.9% of cases of potentially preventable significant physiologic compromise had aortic arch obstruction. The incidence of potentially preventable significant physiologic compromise as a result of congenital heart disease in the general population is estimated to be 1 per 15000 to 1 per 26000 live births.

CONCLUSIONS. The incidence and timing of significant physiologic compromise as a result of critical congenital heart disease seems amenable to postnatal screening. Any viable screening strategy must be sensitive for lesions with aortic arch obstruction.

Key Words: cardiovascular anomalies • epidemiology • screening

Abbreviations: CHD—congenital heart disease • SPC—significant physiologic compromise • CHOP—Children's Hospital of Philadelphia • CI—confidence interval • HLHS—hypoplastic left heart syndrome

Accepted Aug 31, 2007.