Screening for Congenital Heart Disease in Infants with Down Syndrome: Is Universal Echocardiography Necessary?

Current guidelines recommend that all neonates with Down syndrome (DS) be screened for congenital heart disease (CHD) with an echocardiogram. We sought to determine the effectiveness of a more accessible and less expensive screening strategy consisting of physical examination, electrocardiogram (ECG), and chest X-ray. The Intermountain Healthcare Enterprise Data Warehouse was used to identify infants with a positive karyotype for DS who were born between January 1, 2000, and June 30, 2012. Infants with the results of an echocardiogram, physical examination, ECG, and chest X-ray documented at age ≤6 months were included. Infants with an abnormality on physical examination, ECG, or chest X-ray were considered to have a positive screen. Echocardiography was the gold standard for calculating sensitivity, specificity, positive and negative predictive values for major CHD, defined as any heart defect that would typically require intervention during early childhood. Of 408 eligible infants, 240 (59 %) had major CHD, of whom 228 (95 %) had a positive screen. Screening missed eight infants with moderate/large patent ductus arteriosus and four infants with a moderate/large atrial septal defect. In 11 of these infants, the defect resolved spontaneously by age ≤4 months. One infant had a moderate atrial septal defect persisting at 2-year follow-up. Sensitivity and specificity of the screening for detecting CHD were 95 % (CI 92-98 %) and 41 % (CI 32-47 %); positive and negative predictive values were 69 % (CI 63-73 %) and 85 % (CI 75-92 %). Screening with physical examination, ECG, and chest X-ray is an effective method of identifying which infants with DS should have an echocardiogram. This method would have resulted in 69 (17 %) fewer echocardiograms without missing infants with major CHD.

Predictive value of myocardial delayed enhancement in Duchenne muscular dystrophy.

In other cardiomyopathies, cardiac magnetic resonance imaging (CMR)-derived myocardial delayed enhancement (MDE), a marker of myocardial fibrosis, is a risk factor for sudden cardiac death (SCD). In Duchenne muscular dystrophy (DMD), the prognostic value of MDE for ventricular arrhythmias and death is unknown. This study aimed to evaluate associations between MDE and electrocardiographic (ECG) changes, ventricular remodeling, risk of arrhythmias, and death in DMD. This retrospective study included all subjects with DMD who had undergone a CMR between January 2006 and December 2011 and had available ECG and 24-h Holter records from the same period. Left ventricular (LV) MDE was semiquantitatively graded from 0 to 4. Comparisons of demographic and clinical characteristics between MDE and no-MDE groups were made. Cox regression analysis was performed to assess factors associated with death. This study investigated 32 boys with a median age of 13.8 years (range, 7.2-17.4 years) and found MDE present in 25 (78 %) of the boys. Compared with the no-MDE subjects, the MDE subjects were older (15.7 ± 3.3 vs 12.1 ± 4.8 years) and had a wider QT dispersion (QTd: 74 ± 30 vs 55 ± 33 ms), a higher incidence of ventricular tachycardia (40 vs 0 %), a lower LV ejection fraction (46 ± 12 vs 56 ± 9 %), a larger LV end-diastolic volume (124 ± 58 vs 68 ± 14 ml/m(2)), and a larger end-systolic volume (57 ± 29 vs 28 ± 10 ml/m(2)) (p < 0.05 for all). During the study period, six of the subjects (19 %) died. The factors associated with mortality were increased age, advanced grade of MDE, higher LV end-systolic volume, lower LV ejection fraction, use of beta-blockers, and ventricular tachycardia. Myocardial fibrosis detected by CMR is an independent predictor of adverse cardiac remodeling, ventricular arrhythmias, and death in DMD. Cardiac MRI using MDE can be applied as a screening tool to detect patients at risk for ventricular arrhythmias, more advanced disease, adverse LV remodeling, and death.

Newborn Screening Pulse Oximetry to Detect Critical Congenital Heart Disease: A Follow-Up Survey of Current Practice at Army, Navy and Air Force Hospitals.

INTRODUCTION: The purpose of this study was to assess the evolution of newborn pulse oximetry screening (+POx) among Army, Air Force, and Naval military hospitals (MH), including prevalence, protocol use, quality assurance processes, access to echocardiography, and use of telemedicine. This is a follow-up from a prior study published in 2011. MATERIALS AND METHODS: An Internet-based questionnaire was forwarded to the chief pediatrician at MH worldwide which support newborn deliveries. Descriptive data were reported using percentages. Grouped responses, as applicable, were further compared using the chi-square test. A p-value < 0.05 was considered statistically significant. RESULTS: Seventy-eight percent (36/46) of MH supporting deliveries worldwide responded to the survey (17 Army hospitals, 11 Navy Hospitals, 8 Air Force hospitals). All responding hospitals utilize +POx, of which 94% endorsed protocol compliance with the American Academy of Pediatrics guidelines. Nine (25%) hospitals were located outside of the United States. Delivery volumes (infants per month) range between 1-49 (36%), 50-99 (28%), 100-199 (19%), and 200-300 (17%). Eleven hospitals reported regular review of +POx data, with most reviewing them monthly. Four MH share findings with state institutions. Ten hospitals either have a staff pediatric cardiologist or use tele-echocardiography for on-site evaluations. Ten hospitals are located greater than 60 miles from the nearest center with echocardiography capabilities. Of the five hospitals using tele-echocardiography, four confirmed critical congenital heart disease (CCHD) using this practice, and all five reported averting transfer of an infant using this technology. Of the 22 hospitals lacking the ability to obtain on-site echocardiography, 12 (55%) are interested in implementing a tele-echocardiography protocol. CONCLUSIONS: All responding MH use +POx, representing significant increase from the 30% of MH reporting use of +POx seven years ago. The majority of MH follow AAP +POx guidelines, and though most have providers review results prior to discharge, only one-third report periodic chart review for quality assurance. Most MH transfer infants with positive +POx results for evaluation due to a lack of on-site echocardiography. Tele-echocardiography was reported as a potential solution to diagnose or rule out CCHD. Over half of remaining hospitals without cardiologists are interested in using this technology to evaluate stable infants with positive CCHD screening.