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: 5.73). 11/2008; 162(10):969-74. DOI: 10.1001/archpedi.162.10.969
Source: PubMed


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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    • "Because infant with such life-threatening heart defects may not initially have symptoms or the clinical sign may be obscure, serious condition may not be recognized on the routine physical examination in majority of cases1). Birth is a great event from fetal to the postnatal circulation; the most important changes are from an aquatic amniotic environment and placental gas exchange to breathing and pulmonary ventilation. "
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    ABSTRACT: Although antenatal diagnostic technique has considerably improved, precise detection and proper management of the neonate with congenital heart disease (CHD) is always a great concern to pediatricians. Congenital cardiac malformations vary from benign to serious conditions such as complete transposition of the great arteries (TGA), critical pulmonary and aortic valvular stenosis/atresia, hypoplastic left heart syndrome (HLHS), obstructed total anomalous pulmonary venous return (TAPVR), which the baby needs immediate diagnosis and management for survival. Unfortunately, these life threatening heart diseases may not have obvious evidence early after birth, most of the clinical and physical findings are nonspecific and vague, which makes the diagnosis difficult. High index of suspicion and astute acumen are essential to decision making. When patent ductus arteriosus (PDA) is opened widely, many serious malformations may not be noticed easily in the early life, but would progress as severe acidosis/shock/cyanosis or even death as PDA constricts after few hours to days. Ductus dependent congenital cardiac lesions can be divided into the ductus dependent systemic or pulmonary disease, but physiologically quite different from each other and treatment strategy has to be tailored to the clinical status and cardiac malformations. Inevitably early presentation is often regarded as a medical emergency. Differential diagnosis with inborn error metabolic disorders, neonatal sepsis, persistent pulmonary hypertension of the newborn (PPHN) and other pulmonary conditions are necessary. Urgent identification of the newborn at such high risk requires timely referral to a pediatric cardiologist, and timely intervention is the key in reducing mortality and morbidity. This following review deals with the clinical presentations, investigative modalities and approach to management of congenital cardiac malformations presenting in the early life.
    Korean Journal of Pediatrics 05/2011; 54(5):183-91. DOI:10.3345/kjp.2011.54.5.183
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    • "However, this complicated CHD had not been recognized at birth and the patient had been discharged home. Not a small proportion of neonates with critical CHD may appear normal or have subtle signs; these signs may escape the clinician's notice in a routine neonatal examination1, 4, 11, 12). "
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    ABSTRACT: The risk of mortality and morbidity of patients with congenital heart defects (CHDs) is highest during neonatal period and increases when diagnosis and proper management are delayed. Neonates with critical CHDs may present with severe cyanosis, respiratory distress, shock, or collapse, all of which are also frequent clinical presentations of various respiratory problems or sepsis in the newborn. Early diagnosis and stabilization and timely referral to a tertiary cardiac center are crucial to improve the outcomes in neonates with CHDs. In this review, the clinical presentation of critical and potentially life-threatening CHDs is discussed along with brief case reviews to help understand the hemodynamics of these defects and ensure proper decision-making in critically ill patients.
    Korean Journal of Pediatrics 06/2010; 53(6):669-79. DOI:10.3345/kjp.2010.53.6.669
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    • "This problem may be aggravated by recent trends to earlier discharge and other changes in postnatal care [20]. The first manifestation of cCHD may be acute with circulatory collapse and the need for cardiopulmonary resuscitation or death, i.e. delayed diagnosis is associated with significant morbidity and mortality [4, 6, 16, 18]. The current incidence of severe physiologic compromise resulting from previously unrecognised cCHD has been estimated to be 1 per 15,000 to 1 per 26,000 live births [27]. "
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    ABSTRACT: Pulse oximetry screening (POS) has been proposed as an effective, noninvasive, inexpensive tool allowing earlier diagnosis of critical congenital heart disease (cCHD). Our aim was to test the hypothesis that POS can reduce the diagnostic gap in cCHD in daily clinical routine in the setting of tertiary, secondary and primary care centres. We conducted a prospective multicenter trial in Saxony, Germany. POS was performed in healthy term and post-term newborns at the age of 24-72 h. If an oxygen saturation (SpO(2)) of <or=95% was measured on lower extremities and confirmed after 1 h, complete clinical examination and echocardiography were performed. POS was defined as false-negative when a diagnosis of cCHD was made after POS in the participating hospitals/at our centre. From July 2006-June 2008, 42,240 newborns from 34 institutions have been included. Seventy-two children were excluded due to prenatal diagnosis (n = 54) or clinical signs of cCHD (n = 18) before POS. Seven hundred ninety-five newborns did not receive POS, mainly due to early discharge after birth (n = 727; 91%). In 41,445 newborns, POS was performed. POS was true positive in 14, false positive in 40, true negative in 41,384 and false negative in four children (three had been excluded for violation of study protocol). Sensitivity, specificity, positive and negative predictive value were 77.78%, 99.90%, 25.93% and 99.99%, respectively. With POS as an adjunct to prenatal diagnosis, physical examination and clinical observation, the percentage of newborns with late diagnosis of cCHD was 4.4%. POS can substantially reduce the postnatal diagnostic gap in cCHD, and false-positive results leading to unnecessary examinations of healthy newborns are rare. POS should be implemented in routine postnatal care.
    European Journal of Pediatrics 03/2010; 169(8):975-81. DOI:10.1007/s00431-010-1160-4 · 1.89 Impact Factor
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