Pediatric cardiology
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Pediatric cardiology · Oct 2013
Multicenter StudyEvaluating the diagnostic gap: statewide incidence of undiagnosed critical congenital heart disease before newborn screening with pulse oximetry.
Screening for critical congenital heart disease (CCHD) using pulse oximetry has been endorsed by the American Academy of Pediatrics and the American Heart Association. We sought to determine the incidence of undetected CCHD in Tennessee and the diagnostic gap of CCHD in Middle Tennessee prior to screening implementation. The Tennessee Initiative for Perinatal Quality Care (TIPQC) Undetected CCHD Registry is a quality improvement initiative established to identify neonates discharged from the nursery with undetected CCHD. ⋯ Prior to implementation of CCHD screening using pulse oximetry, 12 Tennessee neonates with CCHD were missed by prenatal ultrasound and newborn examination. CoA was the most common lesion missed and is also the CCHD most likely to be missed despite addition of screening using pulse oximetry. Continued evaluation of the diagnostic gap with particular attention to missed diagnoses of CoA should accompany institution of CCHD screening programs.
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Pediatric cardiology · Oct 2013
Neurodevelopmental outcomes for children with hypoplastic left heart syndrome at the age of 5 years.
This study aimed to determine the neurodevelopmental (ND) outcome for children with hypoplastic left heart syndrome (HLHS) at early school age. English-speaking patients who underwent the Norwood procedure between 2000 and 2005 were eligible at 4-6 years of age for ND testing. Of the 72 eligible patients, 44 (61 %) agreed to participate, and 37 completed ND testing before the close of the study. ⋯ On the parent and teacher completed measures, the subjects scored higher than the test norms on attention problems (z = 0.40-0.62; p < 0.005). Although the overall ND performance of the cohort was normal, the subjects showed relative weakness in visual motor and attention skills. Ongoing developmental monitoring of these children is recommended to guide interventions that may improve individual outcomes and to assess the impact of changes in clinical management strategies on functional outcomes.
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Pediatric cardiology · Oct 2013
22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases.
The 22q11.2 deletion syndrome is characterized by multiple congenital anomalies including conotruncal cardiac defects. Identifying the patient with a 22q11.2 deletion (22q11del) can be challenging because many extracardiac features become apparent later in life. We sought to better define the cardiac phenotype associated with a 22q11del to help direct genetic testing. 1,610 patients with conotruncal defects were sequentially tested for a 22q11del. ⋯ A subset of patients with conotruncal defects are at risk for a 22q11del. A concurrent AAA increases the risk regardless of the intracardiac anatomy. These findings help to direct genetic screening for the 22q11.2 deletion syndrome in the cardiac patient.
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Pediatric cardiology · Oct 2013
Case ReportsFalse-negative pulse oximetry screening for critical congenital heart disease: the case for parent education.
The American Academy of Pediatrics recently published evidence-based guidelines for a standardized approach to pulse oximetry as a screening tool for critical congenital heart disease (CCHD). The addition of CCHD screening to the standard newborn examination may lead to earlier detection of CCHD and subsequently decreased morbidity and mortality. We report a case of CCHD with excessive pulmonary blood flow that went undetected during routine newborn screening. Healthcare practitioners and families need to be aware of the limitations of CCHD screening.