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Ruey-Kang R. Chang, MD, MPH; Michelle Gurvitz, MD; Sandra Rodriguez, MS

Arch Pediatr Adolesc Med. 2008;162(10):969-974.

Objectives  To evaluate the rate and the clinical and demographic characteristics of missed diagnosis of critical congenital heart disease (CCHD).

Design  Population-based retrospective study of 1989-2004 California statewide death registry data.

Setting  California.

Participants  The study cohort consisted of 898 infants who died of CCHD at 1 to 364 days of age who either did not undergo surgery or had an unknown surgery status. From all patients who met these initial criteria, we examined (1) whether autopsies were performed and autopsy results were used to establish the cause of death, (2) whether autopsies were performed but the results were not used to establish a cause of death, and (3) whether infants with hypoplastic left heart syndrome (HLHS) were potentially receiving comfort care.

Main Outcome Measures  Missed and possibly late diagnosis of CCHD.

Results  Among 152 infants with a missed CCHD diagnosis, the median age at death was 13.5 days. More than 50% of patients with a missed CCHD diagnosis (n = 78) died at home or in the hospital emergency department. The most common diagnoses were HLHS and coarctation of aorta. There were an average of 10 patients with missed CCHD diagnoses and 20 patients with late diagnoses in California per year. The total annual number of patients with missed or late diagnoses decreased in 1989-1999 and remained unchanged in 2000-2004.

Conclusions  Up to 30 infants per year died of a missed or possibly late diagnosis of CCHD in California. Most deaths due to a missed diagnosis were from HLHS and coarctation of the aorta. Because the median age at death was younger than 2 weeks, a careful cardiovascular evaluation for left heart obstructive CHD should be performed during the first postdischarge visit to a pediatrician's office at 3 to 5 days of age.

Author Affiliations: Division of Cardiology, Department of Pediatrics, Harbor-UCLA (University of California, Los Angeles) Medical Center, Torrance (Dr Chang and Ms Rodriguez), and Division of Cardiology, Children's Hospital and Regional Medical Center, Seattle, Washington (Dr Gurvitz).

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