Missed diagnosis of critical congenital heart disease
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.
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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.
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ABSTRACT: HIF-1 alpha (hypoxia-inducible factor-1 alpha) mediates the responses of mammalian cells to hypoxia/ischemia by inducing the expression of adaptive gene products (e.g., vascular endothelial growth factor (VEGF) and erythropoietin (EPO)). Persistent pulmonary hypertension of the newborn (PPHN) and cyanotic congenital heart disease (CCHD) are common neonatal diseases considered as paradigms of hypoxemia. Since the expression HIF-1 alpha, VEGF and EPO in newborns diagnosed with these diseases has yet to be studied, we set out to define the expression of these genes in peripheral blood from newborn infants diagnosed with PPHN and CCHD. The mRNA transcripts encoding HIF-1 alpha, VEGF and EPO were measured by RT-PCR in healthy newborn infants and infants diagnosed with PPHN and CCHD. An important increase in HIF-1 alpha expression was observed in both pathological conditions, accompanied by significant increases in VEGF and EPO expression when compared to healthy infants. HIF-1 alpha mRNA expression increases in newborn infants with PPHN or CCHD, as does the expression of its target genes VEGF and EPO.Clinical biochemistry 10/2009; 43(3):234-9. DOI:10.1016/j.clinbiochem.2009.09.022 · 2.23 Impact Factor
- 01/2010: pages 100 - 105; RSU., ISBN: 9789984788654