The Performance of Critical Congenital Heart Disease Screening in Rural Versus Urban Locations in the Northwest United States.

Objectives: Pulse oximetry screening of newborns detects critical congenital heart disease (CCHD). Rural birth location is known to affect timing and management of when infants with CHD undergo surgery, but its association with CCHD screening is unknown. We assess the relationship between rural location and postnatal CCHD diagnosis and describe lesion-specific modes of diagnosis. Study design: Data were abstracted from medical records at 2 cardiac surgery centers in Washington state. Infants with CCHD, defined as CHD requiring either cardiac intervention or resulting in death at <1 month of age, born between July 2015 and June 2020, were included and classified by method of identification. Patient home ZIP codes were used to determine rural location. Results: We included 561 newborns with CCHD; 35% were diagnosed postnatally. Predominant postnatal mechanisms of identification (n = 194) included symptomatic before CCHD screening period (56%), CCHD screening (22%), and symptomatic after false-negative screen (15%). Postnatal diagnosis rate increased with degree of ruralness (48% in small rural/isolated regions vs 32% in urban regions; P = .01) and incidence of undiagnosed CCHD at birth increased with lower nursery levels (5.5/10 000 live births in nursery level 1 vs 2.1/10 000 live births in level 4). Conclusions: CCHD screening identifies 22% of postnatally diagnosed CCHD and 7% of cases overall in our region. Postnatal diagnosis is more common in rural regions. The incidence of undiagnosed CCHD at birth increases with decreasing nursery levels. This study supports the value of CCHD screening in routine newborn care, especially in rural areas and hospitals with lower nursery levels.

Predictors of post-operative left atrioventricular valve regurgitation in pediatric patients with complete atrioventricular canal defects.

BACKGROUND: In infants with complete atrioventricular canal (CAVC) defects, post-operative left atrioventricular valve regurgitation (LAVVR) is a known major cause of morbidity and mortality and a common indication for re-operation. However, there is scarce data to identify risk factors for poor outcomes. Our study aims to find echocardiographic characteristics that predict post-operative LAVVR at discharge and 1-year follow-up. METHODS: Retrospective cohort study of patients with initial CAVC repair at our hospital who were followed for 1 year between 2013 and 2022. Patients with major co-morbid conditions were excluded. Serial echocardiograms were reviewed. Anatomic details, quantitative and qualitative measure of LAVVR including the number of regurgitant jets, regurgitant jet length and vena contracta width, and ventricular function were collected. The time points measured include pre-operative transthoracic echocardiogram (TTE), post-operative transesophageal echocardiogram (PO-TEE), routine protocol based post-operative day 1 (POD1) TTE, discharge TTE and 1-year post-operative (1yPO) TTE. Paired t-tests, chi-square analysis, and linear regression analysis were performed comparing measured variables to LAVVR outcomes. RESULTS: Fifty-two patients were included; 92% had Trisomy 21. The majority were classified as Rastelli A (71%), others Rastelli C (29%). Only two patients had moderate or greater LAVVR pre-operatively. The mean age at repair was 125 ± 44 days. Pre-operative LAVVR was the only significant predictor of LAVVR severity at 1 year after backward stepwise regression. Of those with < moderate LAVVR on PO-TEE, 20% had worsening to ≥ moderate at discharge, but only 9% remained that way at 1 year. Of those with ≥ moderate LAVVR on PO-TEE, 40% improved to < moderate by 1 year. Two patients who worsened at 1 year, both secondary to likely cleft suture dehiscence. Only one patient required reoperation in the immediate post-operative period secondary to severe LAVVR due to suture dehiscence. Routine protocol-based POD1 echo did not have any association with altered outcomes. CONCLUSION: Pre-operative LAVVR was the only significant predictor of LAVVR severity at 1 year. A significant percentage (40%) of patient with ≥ moderate LAVVR on PO-TEE improved to < moderate by 1 year. Furthermore, routine protocol-based POD1 echo did not have any association with altered outcomes.

Factors Associated With Attendance for Cardiac Neurodevelopmental Evaluation.

BACKGROUND AND OBJECTIVES: Neurodevelopmental evaluation of toddlers with complex congenital heart disease is recommended but reported frequency is low. Data on barriers to attending neurodevelopmental follow-up are limited. This study aims to estimate the attendance rate for a toddler neurodevelopmental evaluation in a contemporary multicenter cohort and to assess patient and center level factors associated with attending this evaluation. METHODS: This is a retrospective cohort study of children born between September 2017 and September 2018 who underwent cardiopulmonary bypass in their first year of life at a center contributing data to the Cardiac Neurodevelopmental Outcome Collaborative and Pediatric Cardiac Critical Care Consortium clinical registries. The primary outcome was attendance for a neurodevelopmental evaluation between 11 and 30 months of age. Sociodemographic and medical characteristics and center factors specific to neurodevelopmental program design were considered as predictors for attendance. RESULTS: Among 2385 patients eligible from 16 cardiac centers, the attendance rate was 29.0% (692 of 2385), with a range of 7.8% to 54.3% across individual centers. In multivariable logistic regression models, hospital-initiated (versus family-initiated) scheduling for neurodevelopmental evaluation had the largest odds ratio in predicting attendance (odds ratio = 4.24, 95% confidence interval, 2.74-6.55). Other predictors of attendance included antenatal diagnosis, absence of Trisomy 21, higher Society of Thoracic Surgeons-European Association for Cardio-Thoracic Surgery mortality category, longer postoperative length of stay, private insurance, and residing a shorter distance from the hospital. CONCLUSIONS: Attendance rates reflect some improvement but remain low. Changes to program infrastructure and design and minimizing barriers affecting access to care are essential components for improving neurodevelopmental care and outcomes for children with congenital heart disease.

Complete atrioventricular septal defect with absent or diminutive primum component: Incidence, anatomic characteristics, and outcomes.

BACKGROUND: Repair of complete atrioventricular septal defect with absent or diminutive primum defect is challenging because of atrial septal malposition and abnormal anatomy of the left atrioventricular valve. We sought to define the incidence, anatomy, and surgical outcomes of this entity. METHODS: We identified all patients in our institutional database presenting for complete atrioventricular septal defect repair from 2006 to 2018. Operative reports and echocardiograms were reviewed to determine the presence and size of the primum defect, atrioventricular valve anatomy, degree of atrioventricular valve regurgitation, repair method, and complications, including reoperation for atrioventricular valve regurgitation. Functionally univentricular patients and those receiving repair at an outside institution were excluded. RESULTS: Of 183 patients with complete atrioventricular septal defect, absent/diminutive primum defect occurred in 16 patients (8.7%; 10 absent, 6 diminutive). Six patients (38%) had leftward malposition of the atrium septum on the common atrioventricular valve. The rate of reoperation for left atrioventricular valve regurgitation was 31% (3 early, 2 late), for which preoperative predictors included leftward malposition of the atrial septum onto the common atrioventricular valve (4/6 patients with malposition required reoperation, P = .036, Fisher exact test). One patient exhibiting this risk factor died. The overall rate of moderate or greater left atrioventricular valve regurgitation on the most recent postoperative echocardiogram was 13% (2/16 patients; median follow-up, 141 days; range, 3-2236 days). CONCLUSIONS: Complete atrioventricular septal defect with absent or diminutive primum defect is a unique variant of complete atrioventricular septal defect for which the risk of reoperation for left atrioventricular valve regurgitation after complete repair is high and risk factors include leftward malposition of the atrial septum on the common atrioventricular valve.

Pediatric Appropriate Use Criteria for Outpatient Echocardiography: Practice Variations among Pediatric Cardiologists, Noncardiologist Subspecialists, and Primary Care Providers.

BACKGROUND: The first pediatric appropriate use criteria (AUC) address the use of initial transthoracic echocardiography in outpatients by all ordering providers. The aim of this study was to appraise the performance of the AUC across pediatric cardiologists, noncardiologist subspecialists, and primary care providers (PCPs). A further aim was to describe the variations in ordering patterns of different groups of practitioners, which could serve as the basis for targeted quality improvement activities. METHODS: Electronic health records for Seattle Children's Hospital and its four regional sites were retrospectively reviewed for initial transthoracic echocardiographic studies performed on patients aged ≤18 years. A sample of 1,000 consecutive studies and a sample of 1,514 studies in which studies ordered by noncardiologists were enriched were reviewed. The ordering provider type, study indication, and findings (normal, incidental, or abnormal) were classified. Indications mapped to three categories: appropriate (A), may be appropriate (M), and rarely appropriate (R). If multiple indications were documented, the highest level of appropriateness was used. RESULTS: In the consecutive sample, pediatric cardiologists ordered 81%, noncardiologist subspecialists 13%, and PCPs 5% of the total studies. In the enriched sample, only 4% were unclassifiable by the AUC. Abnormal findings were identified in 23% of A, 13% of M, and 9% of R studies (P = .03). Appropriateness varied among the three groups of providers (P < .001). For pediatric cardiologists, 67% of studies were indication category A, 13% M, and 14% R. Noncardiologist subspecialists ordered the highest percentage of A studies (88%) and the lowest percentage of R studies (1%). PCPs had the highest percentage of R indications (18%), and 23% could not be fully classified, because of insufficient order information. Yield of abnormal findings was highest for subspecialists (23%), intermediate for cardiologists (19%), and lowest for PCPs (15%; P = .03). CONCLUSIONS: The AUC performed well across all provider types, as measured by the low percentage of unclassifiable indications and the observed relationship between greater appropriateness and higher yield of abnormal findings. The three provider types differed in appropriateness rates and had distinct ordering patterns, which could form the basis for future targeted quality improvement efforts.

Development of quality metrics for ambulatory pediatric cardiology: Infection prevention.

INTRODUCTION: In 2012, the American College of Cardiology's (ACC) Adult Congenital and Pediatric Cardiology Council established a program to develop quality metrics to guide ambulatory practices for pediatric cardiology. The council chose five areas on which to focus their efforts; chest pain, Kawasaki Disease, tetralogy of Fallot, transposition of the great arteries after arterial switch, and infection prevention. Here, we sought to describe the process, evaluation, and results of the Infection Prevention Committee's metric design process. METHODS: The infection prevention metrics team consisted of 12 members from 11 institutions in North America. The group agreed to work on specific infection prevention topics including antibiotic prophylaxis for endocarditis, rheumatic fever, and asplenia/hyposplenism; influenza vaccination and respiratory syncytial virus prophylaxis (palivizumab); preoperative methods to reduce intraoperative infections; vaccinations after cardiopulmonary bypass; hand hygiene; and testing to identify splenic function in patients with heterotaxy. An extensive literature review was performed. When available, previously published guidelines were used fully in determining metrics. RESULTS: The committee chose eight metrics to submit to the ACC Quality Metric Expert Panel for review. Ultimately, metrics regarding hand hygiene and influenza vaccination recommendation for patients did not pass the RAND analysis. Both endocarditis prophylaxis metrics and the RSV/palivizumab metric passed the RAND analysis but fell out during the open comment period. Three metrics passed all analyses, including those for antibiotic prophylaxis in patients with heterotaxy/asplenia, for influenza vaccination compliance in healthcare personnel, and for adherence to recommended regimens of secondary prevention of rheumatic fever. CONCLUSIONS: The lack of convincing data to guide quality improvement initiatives in pediatric cardiology is widespread, particularly in infection prevention. Despite this, three metrics were able to be developed for use in the ACC's quality efforts for ambulatory practice.

Effect of congenital heart disease on 4-year neurodevelopment within multiple-gestation births.

OBJECTIVES: We sought to assess the effect of congenital heart disease requiring infant surgery with cardiopulmonary bypass on neurodevelopmental outcomes and growth at 4 years of age, while matching for gestational age, socioeconomic status, maternal gestational conditions, home environment, and parental intelligence by studying multiple-gestation births. METHODS: We performed within-family comparison of 14 multiple-gestation births in which 1 child had congenital heart disease requiring surgery with cardiopulmonary bypass at ≤6 months of age. Between 4 and 5 years of age, a comprehensive neurodevelopmental assessment was performed. Paired comparisons were conducted between siblings with and without heart defects using a series of nonparametric tests. RESULTS: On average, the children qualified as late preterm (mean gestational age 35.4 ± 2.6 weeks). At an average age of 4.8 ± 0.1 years, children with congenital heart disease weighed less than their siblings (median weight for age z score -0.4 vs 0.1, P = .02) and had worse performance for cognition (median full-scale IQ 99 vs 109, P = .02) and fine motor skills (median Wide Range Assessment of Visual Motor Ability, Fine Motor score 94.5 vs 107.5, P < .01). CONCLUSIONS: After controlling for socioeconomic status, home environment, parental intelligence, and gestational factors by using multiple-gestation births, congenital heart disease requiring surgery with cardiopulmonary bypass at ≤6 months of age is associated with lower weight, cognitive abilities and fine motor skills at 4 years of age.

Voluntary implementation of critical congenital heart disease screening in Washington hospitals.

OBJECTIVES: To determine the extent of voluntary implementation of pulse oximetry screening for critical congenital heart disease (CCHD) in Washington. At the time of the study, there was no state legislative or regulatory mandate for CCHD screening in Washington. METHODS: A Web-based survey was sent to the nurse manager or nurse educator of the well newborn unit at each of the 64 Washington hospitals with active delivery services in May and June 2013. Telephone follow-up was conducted for incomplete surveys. The survey assessed awareness and implementation of the recommendation, the protocol followed, staffing and equipment issues, pediatric cardiology support services, and the availability of prostaglandin E1 at each birth hospital. A brief follow-up was performed in December 2013 for hospitals not screening at the time of the initial survey. RESULTS: As of December 2013, 89% of Washington birth hospitals (accounting for 91.4% of births) had active CCHD screening programs. The recommended protocol is used in 95% of screening hospitals. Screening programs were instituted in 96% of hospitals using existing staff, but 52% of hospitals purchased new durable equipment to institute screening. CONCLUSIONS: There has been widespread voluntary adoption of pulse oximetry screening for CCHD in Washington birth hospitals. Quality assurance efforts are needed to assess the quality of the screening programs.

Critical congenital heart disease screening practices among licensed midwives in washington state.

INTRODUCTION: Since 2011, pulse oximetry screening for critical congenital heart disease (CCHD) has been recommended for newborns. Initial implementation guidelines focused on in-hospital births. Recent publications affirm the importance of universal screening, including for out-of-hospital births. No published data describe CCHD screening rates for out-of-hospital births. METHODS: Licensed midwives in Washington state were surveyed regarding their current CCHD screening practices, volume of births attended annually, and typical newborn follow-up practices. For those who indicated they were screening, additional information was obtained about equipment used, timing of screening, and rationale for voluntarily initiating screening. For those who indicated that they were not screening, information regarding barriers to implementation was solicited. RESULTS: Of the 61 midwives in our sample, 98% indicated they were aware of published guidelines recommending universal newborn screening for CCHD utilizing pulse oximetry. Furthermore, 52% indicated that they were screening for CCHD currently. Ten percent stated they do not intend to screen, whereas the remaining respondents indicated that they plan to screen in the future. The primary barriers to screening were the cost of pulse oximetry equipment and inadequate training in screening technique and interpretation. CONCLUSION: Although voluntary implementation of CCHD screening by licensed midwives in Washington is increasing, it lags behind the implementation rates reported for in-hospital births.

Epidemiologic features of the presentation of critical congenital heart disease: implications for screening.

OBJECTIVE: Critical congenital heart disease has been proposed as a target of newborn screening. This study aimed to define the incidence and timing of significant physiologic compromise attributable to critical congenital heart disease as well as the distribution of vulnerable lesions. These descriptive parameters must be defined to evaluate the impact and feasibility of any proposed screening strategy. METHODS: A retrospective cohort study of neonates who had critical congenital heart disease and were admitted to a single institution was conducted. Critical congenital heart disease was defined as congenital heart disease that required invasive intervention or resulted in death in the first 30 days of life. Significant physiologic compromise was defined by severe metabolic acidosis, seizure, cardiac arrest, or laboratory evidence of renal or hepatic injury before invasive intervention. Significant physiologic compromise was classified as potentially preventable when it occurred as a result of undiagnosed congenital heart disease after 12 hours of life. RESULTS: Significant physiologic compromise occurred in 76 (15.5%) of 490 patients, and potentially preventable significant physiologic compromise occurred in 33 (6.7%) of 490 patients. Most (83%) significant physiologic compromise as a result of unrecognized congenital heart disease occurred after 12 hours of age. A total of 90.9% of cases of potentially preventable significant physiologic compromise had aortic arch obstruction. The incidence of potentially preventable significant physiologic compromise as a result of congenital heart disease in the general population is estimated to be 1 per 15,000 to 1 per 26,000 live births. CONCLUSIONS: The incidence and timing of significant physiologic compromise as a result of critical congenital heart disease seems amenable to postnatal screening. Any viable screening strategy must be sensitive for lesions with aortic arch obstruction.

Heterotaxy syndrome with functional single ventricle: does prenatal diagnosis improve survival?

BACKGROUND: Despite improved outcome for many single ventricle lesions, staged reconstruction for heterotaxy syndrome with a functional single ventricle continues to have a high mortality. Prenatal identification of heterotaxy syndrome may improve long-term survival. METHODS: Our database was reviewed from January 1996 to December 2004 for patients with heterotaxy syndrome. Assessment was made for prenatal diagnosis and echocardiographic characteristics of heterotaxy syndrome. We sought to assess the accuracy of fetal echocardiography in the diagnosis of heterotaxy syndrome and determine whether prenatal diagnosis and other risk factors have an impact on survival in patients with heterotaxy syndrome. RESULTS: Of 81 patients that met criteria, 43 (53%) had prenatal diagnosis. Prenatal diagnosis had high specificity and positive predictive value for all findings but had low sensitivity for anomalous pulmonary veins. Among the 70 patients born alive, survival was 60% with median follow-up of 51.4 months (range, 6.5 to 109.7 months). Prenatal diagnosis did not improve survival (p = 0.09). None of the 11 patients with complete heart block (CHB) survived past 3 months of age. Two patients underwent heart transplantation as their first intervention and have survived. CHB and anomalous pulmonary venous connection were associated with shorter duration of survival. CONCLUSIONS: Prenatal diagnosis of heterotaxy syndrome does not improve survival in patients who undergo single ventricle reconstruction. The most potent risk factors for poor outcome (CHB, anomalous pulmonary veins) are likely not impacted by identification in utero. In light of the poor outcome, cardiac transplantation as an initial therapy may be a viable option for some patients.

Real-time 3-dimensional echocardiographic imaging of congenital heart disease using matrix-array technology: freehand real-time scanning adds instant morphologic details not well delineated by conventional 2-dimensional imaging.

OBJECTIVE: We sought to investigate whether real-time (RT) 3-dimensional echocardiography (RT3D) using matrix-array technology could resolve a specific morphologic detail that could not be well resolved during conventional 2-dimensional (2D)/Doppler echocardiographic imaging of congenital heart disease. BACKGROUND: Although 2D echocardiography is currently the primary imaging modality of congenital heart disease, there are still some anatomic details that cannot be well delineated by that modality. METHODS: In all, 70 patients underwent RT3D examination using matrix-array transducer. Applying the standard sweeping technique as for 2D imaging, freehand RT imaging was used for immediate feedback. The 2D examinations of the last 23 consecutive patients were used to validate the additional value of RT3D by 3 examiners blinded to the findings of RT3D. RESULTS: The adequacy of 2D imaging to resolve the morphologic detail in question ranged from 30% to 70%, whereas RT3D imaging was considered successful in delineating the morphologic detail in 80% to 100% of patients instantly. The image resolution was superior or equivalent to that obtained by 2D imaging. Heart valves, septal defects, and volumetric valvular and vascular color flow morphologies were well delineated by RT3D. CONCLUSION: Matrix-array RT3D is a significant breakthrough technology that allowed instant visualization of cardiac anatomic details that could not be well delineated by 2D imaging. Further improvements of some technical limitations should make RT3D matrix-array cardiac imaging a significant modality in the field of echocardiographic imaging of congenital cardiac anomalies.

Effect of congenital heart disease on neurodevelopmental outcomes within multiple-gestation births.

OBJECTIVES: We sought to assess the effect of congenital heart disease requiring surgical intervention with cardiopulmonary bypass at 6 months of age or less on developmental outcomes and growth at 1 year of age while controlling for socioeconomic status, prematurity, home environment, and parental intelligence. METHODS: We performed within-family comparison of 11 multiple-gestation births in which one child had congenital heart disease. At 1 year of age, the Bayley Scales of Infant Development II were administered, and growth parameters were assessed. Paired comparisons were made by using fixed effects regression conditioned on family. RESULTS: The multiple-gestation subjects were mildly premature on average (mean gestational age, 35.4 +/- 3.0 weeks). At 1 year of age, children with congenital heart disease scored lower on the Mental Development Index (85.0 +/- 19.3 vs 93.9 +/- 16.0, P = .037) and the Psychomotor Development Index (76.6 +/- 16.9 vs 91.3 +/- 14.9, P = .015) on the Bayley Scales of Infant Development II than did their siblings without congenital heart disease. There were no differences between siblings in weight, height, or head circumference. CONCLUSIONS: The presence of congenital heart disease requiring surgical intervention with cardiopulmonary bypass at 6 months of age or less is associated with a deficit in developmental achievement at 1 year of age, as measured by using the Bayley Scales of Infant Development II.

Late outcomes in patients with surgically treated congenital heart disease.

Optimizing late outcomes should be the end result of improvements in medical and surgical care for congenital heart disease (CHD). In addition to mortality, significant morbidities after surgery for CHD need to be considered. These include the need for reintervention, cardiovascular complications, exercise limitations, neurocognitive morbidities, effects on pregnancy, difficulty obtaining insurance, need for chronic medications, and impaired functional status and quality of life. Long-term outcome studies are difficult to perform, and their interpretation is complicated by intervening changes in management. Specific discussion of long-term follow-up of tetralogy of Fallot, D-transposition of the great arteries, and hypoplastic left heart syndrome illustrates the myriad management changes over the last three decades, the challenges in predicting outcomes for recent patients, and the need for ongoing initiation of long-term follow-up studies.