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Published on: May 5, 2018
Missed diagnosis of critical congenital heart disease
Ruey-Kang R Chang1, Michelle Gurvitz, Sandra Rodriguez
1Department of Pediatrics, Division of Cardiology, Harbor-UCLA Medical Center, Torrance, CA 90509, USA. rkchang@ucla.edu
Insights
Up to 30 infants annually died from missed or late critical congenital heart disease (CCHD) diagnoses in California, primarily from hypoplastic left heart syndrome and coarctation of the aorta. Early cardiovascular evaluation post-discharge is crucial.
Area of Science:
- Pediatrics
- Cardiology
- Public Health
Background:
- Critical congenital heart disease (CCHD) poses a significant threat to infant mortality.
- Missed or delayed diagnoses contribute to preventable deaths.
Purpose of the Study:
- To determine the incidence and characteristics of missed diagnoses of CCHD.
- To identify specific CCHD types and demographic factors associated with missed diagnoses.
Main Methods:
- Retrospective analysis of California statewide death registry data from 1989-2004.
- Inclusion of 898 infants who died of CCHD between 1-364 days of age.
- Examination of autopsy records and clinical information to identify missed or late diagnoses.
Main Results:
- An estimated 10 infants per year had missed CCHD diagnoses, and 20 had late diagnoses.
- Hypoplastic left heart syndrome (HLHS) and coarctation of the aorta were the most common CCHDs.
- Over 50% of infants with missed diagnoses died at home or in the emergency department, with a median age of death at 13.5 days.
Conclusions:
- Up to 30 infants annually may die from missed or late CCHD diagnoses in California.
- HLHS and coarctation of the aorta are key conditions to monitor.
- A thorough cardiovascular assessment during the first post-discharge pediatrician visit (3-5 days) is recommended for early detection.
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.
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