Missed diagnosis of critical congenital heart disease

Department of Pediatrics, Division of Cardiology, Harbor-UCLA Medical Center, Torrance, CA 90509, USA.
JAMA Pediatrics (Impact Factor: 4.25). 11/2008; 162(10):969-74. DOI: 10.1001/archpedi.162.10.969
Source: PubMed

ABSTRACT To evaluate the rate and the clinical and demographic characteristics of missed diagnosis of critical congenital heart disease (CCHD).
Population-based retrospective study of 1989-2004 California statewide death registry data.
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.
Missed and possibly late diagnosis of CCHD.
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.
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.

  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: 1,2,4,6,7 Universitatea de Medicină şi Farmacie Tg. Mureş, 3 Spitalul Clinic Judeţean de Urgenţă Tg. Mureş 5 Institutul de Urgenţă pentru Boli Cardiovasculare şi Transplant Tg. Mureş Cuvinte cheie: malformaţii cardiace congenitale critice, epidemiologie Rezumat: Evoluţia cardiologiei pediatrice în ultimele decenii se concretizează la nivel mondial în scăderea semnificativă a mortalităţii prin malformaţii cardiace congenitale (MCC). România nu dispune de date în acest sens. Abstract: The progress achieved in the last decades in pediatric cardiology results in a significant decrease in mortality due to congenital heart disease (CHD). In Romania there are no specific data concerning this subject. The authors present a three year experience of a single pediatric cardiovascular center regarding epidemiology, diagnosis and therapy of patients with critical CHD, in a prospective study. The results show a significant percentage of critical CHD (aprox. 20%), with a mean age at diagnosis of 23.6 days. The number of patients undergoing surgical treatment and the results of therapy highlight the need of early diagnosis and timely refferal for surgical treatment. Conclusion: Critical CHD represent an important part of the pathology of a pediatric cardiovascular center. Nowadays, late age of referral worsens the prognostic of this patients. The necessity of establishing a coherent strategy emerges, in order to offer these children a chance.
  • [Show abstract] [Hide abstract]
    ABSTRACT: Pulse oximetry is one of the most commonly used monitoring devices in clinical medicine. It was first introduced to neonatal medicine in the mid-1980s to monitor oxygenation and guide therapy, and it is now used widely in the delivery room during resuscitation. More recently, it is utilized to screen for congenital heart disease. Pulse oximetry is based on the variation in the ratio of the light absorbances of tissues during systole and diastole. It has become the mainstay of non-invasive continuous oxygen monitoring but with a wide variation in clinical practices and without good research evidence. This article provides a brief historical overview of pulse oximetry development, its principles, advantages and limitations, and the clinical applications in neonatal medicine. Copyright © 2015 Elsevier Ltd. All rights reserved.
    Seminars in Fetal and Neonatal Medicine 02/2015; DOI:10.1016/j.siny.2015.01.006 · 3.13 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: BACKGROUND: Delayed diagnosis of critical congenital heart disease (CCHD) in neonates increases morbidity and mortality. The use of pulse oximetry screening is recommended to increase detection of these conditions. The contribution of pulse oximetry in a tertiary-care birthing center may be different from at other sites. METHODS: We analyzed CCHD pulse oximetry screening for newborns >= 35 weeks' gestation born at Brigham and Women's Hospital and cared for in the well-infant nursery during 2013. We identified patients with prenatal diagnosis of CCHD. We also identified infants born at other medical centers who were transferred to Boston Children's Hospital for CCHD and determined if the condition was diagnosed prenatally. RESULTS: Of 6838 infants with complete pulse oximetry data, 6803 (99.5%) passed the first screening. One infant failed all 3 screenings and had the only echocardiogram prompted by screening that showed persistent pulmonary hypertension. There was 1 false-negative screening in an infant diagnosed with interrupted aortic arch. Of 112 infants born at Brigham and Women's Hospital with CCHD, 111 had a prenatal diagnosis, and none was initially diagnosed by pulse oximetry. Of 81 infants transferred to Boston Children's Hospital from other medical centers with CCHD, 35% were diagnosed prenatally. CONCLUSIONS: In our tertiary-care setting, pulse oximetry did not detect an infant with CCHD because of effective prenatal echocardiography screening. Pulse oximetry will detect more infants in settings with a lower prenatal diagnosis rate. Improving training in complete fetal echocardiography scans should also improve timely diagnosis of CCHD.
    Pediatrics 10/2014; 134(5). DOI:10.1542/peds.2014-1461 · 5.30 Impact Factor