Missed diagnosis of critical congenital heart disease

Arch Pediatr Adolesc Med. 2008 Oct;162(10):969-74. doi: 10.1001/archpedi.162.10.969.


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.

MeSH terms

  • California
  • Cause of Death*
  • Cohort Studies
  • Critical Illness / mortality
  • Diagnostic Errors / mortality
  • Diagnostic Errors / statistics & numerical data*
  • Early Diagnosis
  • Female
  • Heart Defects, Congenital / diagnosis*
  • Heart Defects, Congenital / mortality*
  • Humans
  • Hypoplastic Left Heart Syndrome / diagnosis
  • Hypoplastic Left Heart Syndrome / mortality
  • Incidence
  • Infant, Newborn
  • International Classification of Diseases
  • Male
  • Registries
  • Retrospective Studies
  • Risk Assessment
  • Survival Analysis