Abnormalities in serum biomarkers correlate with lower cardiac index in the Fontan population.

BACKGROUND: Fontan survivors have depressed cardiac index that worsens over time. Serum biomarker measurement is minimally invasive, rapid, widely available, and may be useful for serial monitoring. The purpose of this study was to identify biomarkers that correlate with lower cardiac index in Fontan patients. Methods and results This study was a multi-centre case series assessing the correlations between biomarkers and cardiac magnetic resonance-derived cardiac index in Fontan patients ⩾6 years of age with biochemical and haematopoietic biomarkers obtained ±12 months from cardiac magnetic resonance. Medical history and biomarker values were obtained by chart review. Spearman's Rank correlation assessed associations between biomarker z-scores and cardiac index. Biomarkers with significant correlations had receiver operating characteristic curves and area under the curve estimated. In total, 97 cardiac magnetic resonances in 87 patients met inclusion criteria: median age at cardiac magnetic resonance was 15 (6-33) years. Significant correlations were found between cardiac index and total alkaline phosphatase (-0.26, p=0.04), estimated creatinine clearance (0.26, p=0.02), and mean corpuscular volume (-0.32, p<0.01). Area under the curve for the three individual biomarkers was 0.63-0.69. Area under the curve for the three-biomarker panel was 0.75. Comparison of cardiac index above and below the receiver operating characteristic curve-identified cut-off points revealed significant differences for each biomarker (p<0.01) and for the composite panel [median cardiac index for higher-risk group=2.17 L/minute/m2 versus lower-risk group=2.96 L/minute/m2, (p<0.01)]. CONCLUSIONS: Higher total alkaline phosphatase and mean corpuscular volume as well as lower estimated creatinine clearance identify Fontan patients with lower cardiac index. Using biomarkers to monitor haemodynamics and organ-specific effects warrants prospective investigation.

Initial Observations of the Effects of Calcium Chloride Infusions in Pediatric Patients with Low Cardiac Output.

Myocardial contractility and relaxation are highly dependent on calcium homeostasis. Immature myocardium, as in pediatric patients, is thought to be more dependent on extracellular calcium for optimal function. For this reason, intravenous calcium chloride infusions may improve myocardial function in the pediatric patient. The objectives of this study were to report the hemodynamic changes seen after administration of continuous calcium chloride to critically ill children. We retrospectively identified pediatric patients (newborn to 17 years old) with hemodynamic instability admitted to the cardiac ICU between May 2011 and May 2012 who received a continuous infusion of calcium chloride. The primary outcome was improvement in cardiac output, assessed by arterial-mixed venous oxygen saturation (A-V) difference. Sixty-eight patients, mean age 0.87 ± 2.67 years, received a total of 116 calcium infusions. Calcium chloride infusions resulted in significant improvements in primary and secondary measures of cardiac output at 2 and 6 h. Six hours after calcium initiation, A-V oxygen saturation difference decreased by 7.4 % (32.6 ± 2.1 to 25.2 ± 2.0 %, p < 0.001), rSO2 increased by 5.5 % (63.1 vs 68.6 %, p < 0.001), and serum lactate decreased by 0.9 mmol/l (3.3 vs 2.4 mmol/l, p < 0.001) with no change in HR (149.1 vs 145.6 bpm p = 0.07). Urine output increased 0.66 ml/kg/h in the 8-h period after calcium initiation when compared to pre-initiation (p = 0.003). Neonates had the strongest evidence of effectiveness with other age groups trending toward significance. Calcium chloride infusions improve markers of cardiac output in a heterogenous group of pediatric patients in a cardiac ICU. Neonates appear to derive the most benefit from utilization of these infusions.

Seasonality and pediatric inflammatory bowel disease.

OBJECTIVES: Seasonal and geographic variations of inflammatory bowel disease (IBD) exacerbations have been described in adults, with inconsistent findings. We sought to determine whether disease activity in pediatric-onset IBD is associated with a seasonal pattern. METHODS: We examined children with Crohn disease (CD) and ulcerative colitis (UC) using data from the ImproveCareNow Collaborative between December 2008 and November 2010. We compared the proportion of patients in continuous remission for all recorded visits in each season. We also compared the distribution of all recorded visits with a physician global assessment (PGA) of remission or active disease across seasons. RESULTS: A total of 1325 patients with CD (6102 visits) and 587 patients with UC (2394 visits) were included. The proportion of patients with UC in continuous remission during each season was highest in the summer (67%) and lowest in the winter (55%) (P=0.01). A similar pattern was found for CD but was not significant. Similarly, the proportion of visits in remission was highest in the summer and lowest in the winter for both UC (29%, 21%; P<0.001) and CD (28%, 23%; P<0.001); however, the distribution of visits with active disease was not significantly different across seasons. CONCLUSIONS: The higher proportion of patients with UC in continuous remission in the summer may be related to the higher proportion of remission visits in the summer, because the proportion of visits with active disease was similar across seasons. These findings do not support any strong associations between season of the year and disease activity in pediatric IBD.

Relationship between echocardiographic LV mass and ECG based left ventricular voltages in an adolescent population: related or random?

BACKGROUND: In attempts to detect diseases that may place adolescents at risk for sudden death, some have advocated for population-based screening. Controversy exists over electrocardiography (ECG) screening due to the lack of specificity, cost, and detrimental effects of false positive or extraneous outcomes. OBJECTIVES: Analyze the relationship between precordial lead voltage on ECG and left ventricle (LV) mass by echocardiogram in adolescent athletes. METHODS: Retrospective cohort analysis of a prospectively obtained population of self-identified adolescent athletes during sports screening with ECG and echocardiogram. Correlation between ECG LV voltages (R wave in V6 [RV6] and S wave in lead V1 [SV1]) was compared to echocardiogram-based measurements of left ventricular mass. Potential effects on ECG voltages by body anthropometrics, including weight, body mass index (BMI), and body surface area were analyzed, and ECG voltages indexed to BMI were compared to LV mass indices to analyze for improved correlation. RESULTS: A total of 659 adolescents enrolled in this study (64% male). The mean age was 15.4 years (14-18). The correlations between LV mass and RV6, SV1, and RV6 + SV1 were all less than 0.20. The false positive rate for abnormal voltages was relatively high (5.5%) but improved if abnormal voltages in both RV6 and SV1 were mandated simultaneously (0%). Indexing ECG voltages to BMI significantly improved correlation to LV mass, though false positive findings were increased (12.9%). CONCLUSION: There is poor correlation between ECG precordial voltages and echocardiographic LV mass. This relationship is modified by BMI. This finding may contribute to the poor ECG screening characteristics.

Prevalence and patterns of retention in cardiac care in young adults with congenital heart disease.

The population with adult congenital heart disease is expanding. Cardiac care retention and follow-up patterns were assessed in 153 adults with congenital heart disease (median age, 24.5 years), previously compliant as teenagers. The majority (125; 81.7%) were retained in care, most often by a pediatric cardiologist (69%). The rate of retention was surprisingly high.

Left ventricular noncompaction in Duchenne muscular dystrophy.

BACKGROUND: Left ventricular noncompaction (LVNC) describes deep trabeculations in the left ventricular (LV) endocardium and a thinned epicardium. LVNC is seen both as a primary cardiomyopathy and as a secondary finding in other syndromes affecting the myocardium such as neuromuscular disorders. The objective of this study is to define the prevalence of LVNC in the Duchenne Muscular Dystrophy (DMD) population and characterize its relationship to global LV function. METHODS: Cardiac magnetic resonance (CMR) was used to assess ventricular morphology and function in 151 subjects: DMD with ejection fraction (EF) > 55% (n = 66), DMD with EF < 55% (n = 30), primary LVNC (n = 15) and normal controls (n = 40). The non-compacted to compacted (NC/C) ratio was measured in each of the 16 standard myocardial segments. LVNC was defined as a diastolic NC/C ratio > 2.3 for any segment. RESULTS: LVNC criteria were met by 27/96 DMD patients (prevalence of 28%): 11 had an EF > 55% (prevalence of 16.7%), and 16 had an EF < 55% (prevalence of 53.3%). The median maximum NC/C ratio was 1.8 for DMD with EF > 55%, 2.46 for DMD with EF < 55%, 1.54 for the normal subjects, and 3.69 for primary LVNC patients. Longitudinal data for 78 of the DMD boys demonstrated a mean rate of change in NC/C ratio per year of +0.36. CONCLUSION: The high prevalence of LVNC in DMD is associated with decreased LV systolic function that develops over time and may represent muscular degeneration versus compensatory remodeling.

Abnormal circumferential strain is present in young Duchenne muscular dystrophy patients.

Advances in management of non-cardiac issues in Duchenne muscular dystrophy (DMD) have improved such that DMD-associated cardiac disease has become the leading cause of death for such patients. Cardiac dysfunction measured by standard transthoracic echocardiographic methods, e.g., fractional shortening (FS) and ejection fraction (EF), is rarely present during the first decade of life. The current study used transthoracic echocardiogram (TTE) to assess strain (ε), an indicator of regional ventricular function, in young DMD patients. A retrospective review of the TTE database was performed. TTE results from DMD patients <8 years (n = 63) performed during 2009 to 2010 were compared with TTE results from an unaffected control group (n = 61). Feature tracking analysis software was used to measure total circumferential strain (ε cc) as well as segmental ε cc based on the American Society of Echocardiography 16-segment model. Although there were no differences in FS, the absolute value for left-ventricular (LV) ε cc at the mid-chamber level was decreased in DMD (-21.7 % ± 3.8 % vs. -19.8 % ± 4.2 %, p < 0.01; unaffected vs. DMD). Segmental ε(cc) was similarly affected in the anteroseptal segment (-23.0 % ± 6.1 % vs. -18.9 % ± 7.0 %, p = 0.001; controls vs. DMD), the inferior segment (-20.7 % ± 5.16 % vs. -17.7 % ± 6.1 %, p = 0.003; controls vs. DMD), and the inferolateral segment (-18.3 % ± 6.2 % vs. -15.9 % ± 6.7 %, p = 0.04; controls vs. DMD). In the present study we demonstrate both total and segmental LV ε cc (anteroseptal, inferior, and inferolateral segments) abnormalities at the mid-chamber level in a large group of young DMD patients with normal FS. These novel findings substantiate that the disease process is present and results in abnormal myocardial function before standard measures detect global dysfunction.

Meta-analysis of function after secondary shoulder surgery in neonatal brachial plexus palsy.

BACKGROUND: Shoulder internal rotation contracture, active abduction, and external rotation deficits are common secondary problems in neonatal brachial plexus palsy (NBPP). Soft tissue shoulder operations are often utilized for treatment. The objective was to conduct a meta-analysis and systematic review analyzing the clinical outcomes of NBPP treated with a secondary soft-tissue shoulder operation. METHODS: A literature search identified studies of NBPP treated with a soft-tissue shoulder operation. A meta-analysis evaluated success rates for the aggregate Mallet score (≥ 4 point increase), global abduction score (≥ 1 point increase), and external rotation score (≥ 1 point increase) using the Mallet scale. Subgroup analysis was performed to assess these success rates when the author chose arthroscopic release technique versus open release technique with or without tendon transfer. RESULTS: Data from 17 studies and 405 patients were pooled for meta-analysis. The success rate for the global abduction score was significantly higher for the open technique (67.4%) relative to the arthroscopic technique (27.7%, P<0.0001). The success rates for the global abduction score were significantly different among sexes (P=0.01). The success rate for external rotation was not significantly different between the open (71.4%) and arthroscopic techniques (74.1%, P=0.86). No other variable was found to have significant impact on the external rotation outcomes. The success rate for the aggregate Mallet score was 57.9% for the open technique, a nonsignificant increase relative to the arthroscopic technique (53.5%, P=0.63). Data suggest a correlation between increasing age at the time of surgery and a decreasing likelihood of success with regards to aggregate Mallet with an odds ratio of 0.98 (P=0.04). CONCLUSIONS: Overall, the secondary soft-tissue shoulder operation is an effective treatment for improving shoulder function in NBPP in appropriately selected patients. The open technique had significantly higher success rates in improving global abduction. There were no significant differences in the success rates for improvement in the external rotation or aggregate Mallet score among these surgical techniques.

Variation in growth of infants with a single ventricle.

OBJECTIVE: The study goal was to evaluate interstage growth variation among sites participating in the National Pediatric Cardiology Quality Improvement Collaborative registry caring for infants with hypoplastic left heart syndrome and to identify nutritional practices common among sites achieving best growth outcomes. STUDY DESIGN: This was a retrospective analysis of infants in the registry who had presented due to their superior cavopulmonary connection (SCPC) and whose surgical site had enrolled ≥ 4 eligible patients in the registry. The primary outcome variable was weight-for-age z-score (WAZ) change between Norwood discharge and presentation for SCPC (interstage period). Blinded, structured interviews were performed with each site regarding site-specific nutritional practices. Practices common among sites with positive interstage WAZ changes were identified. RESULTS: Sixteen centers enrolled 132 infants from December 2008 through December 2010. Median age at SCPC was 5 months (2.6-12.6), and median interstage WAZ change was -0.29 (-3.2 to 2.3). Significant variation in WAZ changes among sites was demonstrated (P < .001). Sites that used standard feeding evaluation prior to Norwood discharge and that closely monitored for specific weight gain/loss red flags in the interstage period demonstrated significantly better patient growth than those that did not use these practices (P = .002). CONCLUSIONS: Considerable variation exists in interstage growth among patients receiving care at these 16 surgical sites. Standardization of interstage nutritional management with focus on best nutritional practices may lead to improved growth in this high-risk population of infants.

Role of sex in the treatment and clinical outcomes of pediatric patients with inflammatory bowel disease.

OBJECTIVE: To examine sex differences in medical therapy and clinical outcomes in pediatric patients with inflammatory bowel disease (IBD). METHODS: We performed a cross-sectional analysis of children with Crohn disease (CD) and ulcerative colitis (UC) using data from the ImproveCareNow Network collected between May 2007 and May 2010. Clinical remission, disease severity, body mass index (BMI) z scores, normal height velocity, and medication use were analyzed by sex and age. RESULTS: One thousand four hundred nine patients were included (993 had CD and 416 had UC). No significant sex differences were found in disease severity, BMI, height velocity, or use of medications. Further analysis of combination therapy with infliximab + 6-mercaptopurine/azathioprine and infliximab + methotrexate also did not reveal any differences. No sex differences were found after mediation use was stratified by age (those younger than 13 years and those 13 years old or older). CONCLUSIONS: In this sample of CD and UC pediatric patients, no significant sex differences were found in disease severity, BMI, height velocity, or medication use. Our data do not support the use of sex as a major factor in patient risk stratification for children with IBD. In addition, despite concerns for sex-specific complications of some medications, our analysis did not suggest any sex differences in medication use.

Internal medicine and emergency medicine physicians lack accurate knowledge of current CDC HIV testing recommendations and infrequently offer HIV testing.

OBJECTIVES: To evaluate the knowledge and attitudes of residents and attendings in emergency medicine (EM) and internal medicine (IM) about HIV. METHODS: An electronic anonymous 41-question survey of IM and EM physicians at the University of Cincinnati Academic Health Center. RESULTS: The survey was completed by 232 physicians (71.6%). EM residents were more likely to routinely offer HIV testing compared to IM residents (60.7% vs. 27.8%, P = 0.0009). Overall, there was no difference in offering HIV testing by sex (32% vs. 35.6%) or by residents versus attendings (33.8% vs. 33.3%). Only 70 physicians (30.9%) were aware of current CDC recommendations of HIV screening with attendings more knowledgeable than residents (41.7% vs. 26%, P = 0.017). CONCLUSION: EM and IM residents and attendings fail to offer HIV testing or assess for HIV transmission risk factors with sufficient frequency. There is also a gap in knowledge of the current CDC recommendations.

The impact of the 2009 H1N1 influenza pandemic on pediatric patients with sickle cell disease.

BACKGROUND: Respiratory infections are associated with clinically significant illness in patients with sickle cell disease (SCD). The 2009 H1N1 pandemic was perceived as a significant threat to this population. METHODS: We undertook a chart review of all patients with SCD followed at our institution to identify those with confirmed H1N1 infection. Further chart and laboratory data was collected on affected patients to analyze clinical courses and the factors that correlated with disease severity. RESULTS: Approximately half of the patients with confirmed H1N1 infection were managed successfully on an outpatient basis with oseltamivir therapy. Among the patients admitted, the most common diagnosis was acute chest syndrome (ACS). Most admitted patients had uncomplicated clinical courses, with a median length of admission of 3 days and no mortality or requirement for mechanical ventilation. A past history of ACS or reactive airway disease correlated with a higher rate of admission and of ACS incidence during the acute illness. Chronic transfusion therapy or hydroxyurea therapy with high hemoglobin F levels had a strong inverse correlation with incidence of ACS. CONCLUSIONS: Our results indicate that that in general the impact of the H1N1 influenza pandemic on patients with SCD was mild but that past clinical history correlated with the severity of illness. Additionally, effective hydroxyurea therapy and chronic transfusion therapy appeared to be protective against the incidence of ACS. Our results suggest guidelines for the management of patients with SCD during future influenza pandemics as well as during seasonal influenza epidemics.

An Animated Functional Data Analysis Interface to Cluster Rapid Lung Function Decline and Enhance Center-Level Care in Cystic Fibrosis.

Identifying disease progression through enhanced decision support tools is key to chronic management in cystic fibrosis at both the patient and care center level. Rapid decline in lung function relative to patient level and center norms is an important predictor of outcomes. Our objectives were to construct and utilize center-level classification of rapid decliners to develop an animated dashboard for comparisons within patients over time, multiple patients within centers, or between centers. A functional data analysis technique known as functional principal components analysis was applied to lung function trajectories from 18,387 patients across 247 accredited centers followed through the United States Cystic Fibrosis Foundation Patient Registry, in order to cluster patients into rapid decline phenotypes. Smaller centers (<30 patients) had older patients with lower baseline lung function and less severe rates of decline and had maximal decline later, compared to medium (30-150 patients) or large (>150 patients) centers. Small centers also had the lowest prevalence of early rapid decliners (17.7%, versus 24% and 25.7% for medium and large centers, resp.). The animated functional data analysis dashboard illustrated clustering and center-specific summaries of the rapid decline phenotypes. Clinical scenarios and utility of the center-level functional principal components analysis (FPCA) approach are considered and discussed.

Implementing a Novel Quality Improvement-Based Approach to Data Quality Monitoring and Enhancement in a Multipurpose Clinical Registry.

OBJECTIVE: To implement a quality improvement based system to measure and improve data quality in an observational clinical registry to support a Learning Healthcare System. DATA SOURCE: ImproveCareNow Network registry, which as of September 2019 contained data from 314,250 visits of 43,305 pediatric Inflammatory Bowel Disease (IBD) patients at 109 participating care centers. STUDY DESIGN: The impact of data quality improvement support to care centers was evaluated using statistical process control methodology. Data quality measures were defined, performance feedback of those measures using statistical process control charts was implemented, and reports that identified data items not following data quality checks were developed to enable centers to monitor and improve the quality of their data. PRINCIPAL FINDINGS: There was a pattern of improvement across measures of data quality. The proportion of visits with complete critical data increased from 72 percent to 82 percent. The percent of registered patients improved from 59 percent to 83 percent. Of three additional measures of data consistency and timeliness, one improved performance from 42 percent to 63 percent. Performance declined on one measure due to changes in network documentation practices and maturation. There was variation among care centers in data quality. CONCLUSIONS: A quality improvement based approach to data quality monitoring and improvement is feasible and effective.

Impaired cerebral autoregulation in preoperative newborn infants with congenital heart disease.

OBJECTIVES: To characterize cerebral autoregulation (CA) in preoperative newborn infants with congenital heart disease (CHD). METHODS: This was a prospective, pilot study of term newborns with CHD who required intensive care. Continuous mean arterial blood pressure (MAP), cerebral tissue oxygen saturation (SCTO2) via near-infrared spectroscopy, and arterial oxygen saturation (SaO2) were collected. Significant low-frequency coherence between MAP and SCTO2 was used to define impaired CA in 20-minute epochs. Cerebral fractional tissue oxygen extraction (FTOE) = (SaO2 - SCTO2)/SaO2 was calculated. Spearman's and rank bi-serial correlations and logistic linear models accounting for multiple measures were used to identify associations with impaired CA and coherence. RESULTS: Twenty-four term neonates were evaluated for 23.4 ± 1.8 hours starting the first day of life. Periods of SaO2 variability >5% were excluded, leaving 63 ± 10 epochs per subject, 1515 total for analysis. All subjects demonstrated periods of abnormal CA, mean 15.3% ± 12.8% of time studied. Significant associations with impaired CA per epoch included greater FTOE (P = .02) and lack of sedation (P = .02), and associations with coherence included greater FTOE (P = .03), lack of sedation (P = .03), lower MAP (P = .006), and lower hemoglobin (P = .02). CONCLUSIONS: Term newborns with CHD display time-varying CA abnormalities. Associations seen between abnormal CA and greater FTOE, lack of sedation, and lower hemoglobin suggest that impaired oxygen delivery and increased cerebral metabolic demand may overwhelm autoregulatory capacity in these infants. Further studies are needed to determine the significance of impaired CA in this population.

Correlation of precordial voltages to left ventricular mass on echocardiogram in adolescent patients with hypertrophic cardiomyopathy compared with that in adolescent athletes.

Electrocardiograms continue to be part of screening programs for athletes and familial hypertrophic cardiomyopathy (HC). Whether electrocardiographic (ECG) findings of left ventricular (LV) hypertrophy can distinguish between healthy populations and those with HC remains unclear. We sought to (1) analyze the relation between ECG voltage and LV mass in patients with HC and (2) evaluate ECG characteristics of patients with phenotypical HC. Retrospective cohort of patients with HC aged 13 to 18 years. Relation between ECG voltages (RV6, SV1, and RV6 + SV1) and echocardiogram measurements of LV mass was investigated using smoothing splines to display relations and compared with those in a prospectively obtained population of adolescents. Frequency of abnormal LV voltages and nonvoltage ECG changes (Q waves, T-wave changes, and ST changes) were analyzed for association with HC. Fifty-three patients with HC (72% men) were age and gender matched to 104 control patients. Smoothing splines demonstrated that parabolic rather than linear relations existed between LV mass and SV1, RV6, and RV6 + SV1 in patients with HC and not the control cohort. LV hypertrophy by ECG voltage criteria was present in 34% of patients with HC and associated with poor sensitivity (29%). In patients with HC, 56% demonstrated nonvoltage ECG abnormalities and were associated with improved sensitivity (68%) and high specificity (94%). In conclusion, there is a parabolic relation between LV voltages and LV mass in adolescents with HC that may lead to "pseudonormalization." Voltage abnormalities were associated with poor sensitivity, whereas nonvoltage criteria were associated with improved sensitivity with high specificity.

Testing a novel method for measuring sleeping metabolic rate in neonates.

BACKGROUND: Sleeping metabolic rate (SMR) is used as a proxy for basal metabolic rate in infants, when measurement while awake is not practical. Measuring SMR via indirect calorimetry (IC) can be useful for assessing feeding adequacy especially in compromised neonates. Standard IC equipment, including a hood placed over the head, is not designed for the smallest of patients. Our aim was to determine whether a nonstandard smaller hood measures SMR in neonates similarly compared with a standard large hood. METHODS: SMR was measured in healthy neonates (controls) and those born with single-ventricle congenital heart disease (cases). Two measurements were performed: SMR using a standard large hood and SMR using a smaller hood. Time-to-steady state, minute ventilation (V̇E), and fraction of exhaled carbon dioxide (FECO2 ; an indicator of data quality) were also measured. Primary outcome was SMR using both hoods. Results are stated as median (interquartile range). Spearman's correlations measured association between the small and large hoods. RESULTS: We studied 9 controls and 7 cases. SMR in controls was not different between the small and large hoods (35.7 [15.14] vs 37.8 [7.41] kcal/kg/d, respectively). In cases, SMR with the small hood was significantly greater than that with the large hood (45.5 [4.63] vs 34.2 [8] kcal/kg/d, P < .02). FECO2 was significantly higher with the small hood versus the large hood in both groups, and V̇E was significantly lower with the small hood versus the large hood in controls only. The SMRs with the small and large hoods were significantly correlated in the control group (r = 0.80, P < .01). Time-to-steady state was similar in both groups regardless of hood size. CONCLUSIONS: SMR measured with a small hood yields results similar to those measured with a large hood in healthy neonates without affecting testing time or other aspects of the IC procedure. Furthermore, results in compromised infants suggest that a smaller hood may facilitate SMR testing in this population.

Usefulness of combined history, physical examination, electrocardiogram, and limited echocardiogram in screening adolescent athletes for risk for sudden cardiac death.

Sudden cardiac death in the young (SCDY) is the leading cause of death in young athletes during sport. Screening young athletes for high-risk cardiac defects is controversial. The purpose of this study was to assess the utility and feasibility of a comprehensive cardiac screening protocol in an adolescent population. Adolescent athletes were recruited from local schools and/or sports teams. Each subject underwent a history and/or physical examination, an electrocardiography (ECG), and a limited echocardiography (ECHO). The primary outcome measure was identification of cardiac abnormalities associated with an elevated risk for sudden death. We secondarily identified cardiac abnormalities not typically associated with a short-term risk of sudden death. A total of 659 adolescent athletes were evaluated; 64% men. Five subjects had cardiac findings associated with an elevated risk for sudden death: prolonged QTc >500 ms (n = 2) and type I Brugada pattern (n = 1), identified with ECG; dilated cardiomyopathy (n = 1) and significant aortic root dilation; and z-score = +5.5 (n = 1). History and physical examination alone identified 76 (11.5%) subjects with any cardiac findings. ECG identified 76 (11.5%) subjects in which a follow-up ECHO or cardiology visit was recommended. Left ventricular mass was normal by ECHO in all but 1 patient with LVH on ECG. ECHO identified 34 (5.1%) subjects in whom a follow-up ECHO or cardiology visit was recommended. In conclusion, physical examination alone was ineffective in identification of subjects at elevated risk for SCDY. Screening ECHO identified patients with underlying cardiac disease not associated with immediate risk for SCDY. Cost of comprehensive cardiac screening is high.

Health-related quality of life in children and adolescents with Duchenne muscular dystrophy.

OBJECTIVES: The purpose of this study was to assess health-related quality of life (QoL) in children with Duchenne muscular dystrophy (DMD), including development and field-testing of a DMD-specific module integrated with the core Pediatric Quality of Life Inventory (PedsQL). METHODS: The PedsQL 4.0 Generic Core and DMD Module Scales were completed by 203 families, including 200 parents and 117 boys with DMD. Scores on the PedsQL Core Scales were compared with those of matched healthy children. Relationships between PedsQL scores and patient characteristics were examined. RESULTS: By both parent report and child self-report, mean PedsQL scores for boys with DMD were significantly lower than those for healthy children for physical and psychosocial QoL (P < .0001), with significantly impaired psychosocial QoL scores self-reported by 57%. Psychosocial QoL, by self-report only, tended to be higher in the older boys (13-18 years) than in younger boys (8-12 years; P = .05) and was not significantly associated with use of mobility aids. Although parents reported higher Daily Activities scores in boys receiving steroids (P = .01), boys receiving steroids reported no difference in Daily Activities but significantly less worry (P = .004). Parent-child concordance was generally in the fair to poor range. Internal consistency reliability coefficients for PedsQL DMD module scales ranged from 0.66 to 0.86. CONCLUSIONS: Overall, boys with DMD reported significantly lower QoL than their healthy peers. Despite decreased physical functioning, older boys seem to perceive better psychosocial QoL than perceived by their parents and by younger boys, unrelated to their need for mobility aids.

Postoperative assessment of laryngopharyngeal dysfunction in neonates after Norwood operation.

BACKGROUND: The purpose of this study was to evaluate the incidence of vocal cord (VC) and swallowing dysfunction in infants after the Norwood operation and to examine the relationship between laryngopharyngeal dysfunction and postoperative outcomes. METHODS: We conducted a retrospective review of 63 infants who underwent routine postoperative fiberoptic endoscopic evaluation of swallowing function and vocal cords after a Norwood operation at our institution during a recent 6-year period (2003-2009). RESULTS: The overall incidence of VC dysfunction after the Norwood operation was 58.7%. After a modification of the aortic arch dissection technique in 2007, the incidence of VC dysfunction decreased significantly from 79.5% in 2003 through 2006 to 25% in 2007 through 2009 (p<0.001). The incidence of swallowing dysfunction also decreased from 23.1% in 2003 through 2006 to 4.2% in 2007 through 2009 (p=0.07). Swallowing dysfunction was more common in patients with VC dysfunction (21.6%) as compared with patients without VC dysfunction (7.7%; p=0.18). Patients with VC dysfunction were more often discharged home on tube-only feeding regimens compared with infants without VC dysfunction (46% versus 26.9%). In infants with both VC and swallowing dysfunction, 75% were discharged exclusively to have tube feeding. Median hospital length of stay tended to be longer in infants with swallowing dysfunction (31 days) than in infants without swallowing dysfunction (23 days; p=0.16). CONCLUSIONS: Vocal cord and swallowing dysfunction are common in infants after the Norwood operation and may increase the need for tube feeding regimens. Modification of surgical techniques for dissection and mobilization of the aorta can significantly reduce the incidence of these adverse outcomes.