Variation in provider compliance with sports restriction guidelines in children with an isolated bicuspid aortic valve.

BACKGROUND: Published guidelines for sports restriction for children with a bicuspid aortic valve remain controversial. We sought to describe practice variation and factors influencing sports restrictions in these children. METHODS: This retrospective single-centre study included children (7-18 years old) with an isolated bicuspid aortic valve at baseline from 1 January, 2005 to 31 December, 2014. Sports restrictions, factors potentially influencing decision-making, and outcomes were collected. Descriptive statistics and multivariable mixed-effects logistic regression models were performed with providers and patients as random effects. Provider variation was estimated using intraclass correlation coefficients. Odds ratios, 95% confidence intervals, and p-values were reported from the models. RESULTS: In 565 encounters (253 children; 34 providers), 41% recommended no sports restrictions, 40% recommended high-static and high-dynamic restrictions, and 19% had no documented recommendations. Based on published guidelines, 22% of children were inappropriately restricted while 30% were not appropriately restricted. The paediatric cardiology provider contributed to 37% of observed practice variation (p < 0.001). Sports restriction was associated with older age, males, greater ascending aorta z-score, and shorter follow-up interval. There were no aortic dissections or deaths and one cardiac intervention. CONCLUSION: Physicians frequently fail to document sports restrictions for children with a bicuspid aortic valve, and documented recommendations often conflict with published guidelines. Despite this, no adverse outcomes occurred. Providers accounted for a significant proportion of the variation in sports restrictions. Further research to provide evidence-based guidelines may improve provider compliance with activity recommendations in this population.

Reducing Unnecessary Diagnostic Testing in Pediatric Syncope: A Quality Improvement Initiative.

Our aim was to reduce the frequency of unnecessary testing used by pediatric cardiologists in the evaluation of pediatric patients with syncope or pre-syncopal symptoms without negatively affecting patient outcomes. Guidelines for cardiac testing in pediatric patients with syncope were developed and disseminated to members of our pediatric cardiology division. Educational brochures and water bottles labeled with tips on preventing syncope were made available to families and providers in our clinics. Compliance to the guidelines was tracked and shared with providers. Segmented regression analysis was used to model cardiac testing utilization and guideline compliance by provider over time before and after the implementation of the guidelines. A pre-intervention cohort of 237 patients (June 2014-May 2015) was compared to 880 post-intervention patients (August 2015-June 2019). There was a significant decrease in the utilization of unnecessary tests [odds ratio (OR) 0.3; 95% confidence interval (CI) 0.14, 0.65; p = 0.002] after the intervention. Charges associated with patient evaluation were significantly lower in the post-intervention cohort (interquartile range $0, $1378 vs $0, $213; p = 0.005). Post-intervention visits to emergency departments within our system were significantly decreased, with no change in the incidence of cardiac arrest, hospitalization for syncope, or referral to pediatric electrophysiologists. We demonstrated a significant reduction in the use of unnecessary testing and associated charges by developing guidelines related to the evaluation of pediatric patients with syncope or pre-syncopal symptoms. There was no demonstrable negative impact on patient outcomes.

MRI in pediatric and congenital heart disease patients with CIEDs and epicardial or abandoned leads.

BACKGROUND: Heart Rhythm Society guidelines outlining magnetic resonance imaging (MRI) in patients with cardiac implantable electronic devices (CIEDs) excluded children and epicardial or abandoned leads due to theoretical risks of harm. Research investigating these risks is lacking. The primary objective of our study is to determine the incidence of adverse events to patients or CIEDs from MRI imaging. The secondary objective is to describe CIED-related artifact on MRI images. METHODS: A single-center retrospective review was performed on all patients with CIEDs who underwent 1.5 Tesla MRI between July 2007 and May 2019. We subdivided patients among four cohorts: (1) patients <18 years of age, (2) epicardial leads, (3) abandoned endocardial leads, and (4) abandoned epicardial leads. Descriptive statistics pre- and post-MRI and at follow-up within 1.5 years were conducted. RESULTS: Fifty-four MRIs were performed on 40 patients. Median age was 21.2 years (IQR 12.0-25.0). Eighteen (33%) MRIs contained abandoned leads; 20 (37%) contained epicardial leads. Three patients, one with abandoned epicardial leads and two with abandoned endocardial leads, experienced mild discomfort at the CIED site. One adult with endocardial leads experienced a pause in the heart rate while programmed in a nonpacing mode. No clinically important changes to CIED parameters occurred. Nine MRIs (17%), especially those with functional cardiac imaging, were uninterpretable due to image artifact. CONCLUSION: In this study, pediatric and adult CHD patients with CIEDs, many with epicardial or abandoned leads, underwent MRIs without clinically significant complications. In some, CIED artifact reduced cardiac MRI image quality due to CIED position.

The Benefits and Bias in Neurodevelopmental Evaluation for Children with Congenital Heart Disease.

Neurodevelopmental (ND) impairment is common in children with congenital heart disease (CHD). While routine ND surveillance and evaluation of high-risk patients has become the standard-of-care, capture rate, barriers to referral, and potential patient benefits remain incompletely understood. Electronic data warehouse records from a single center were reviewed to identify all eligible and evaluated patients between July 2015 and December 2017 based on current guidelines for ND screening in CHD. Diagnoses, referring provider, and payor were considered. Potential benefit of the evaluation was defined as receipt of new diagnosis, referral for additional evaluation, or referral for a new service. Contingencies were assessed with Fisher's exact test. In this retrospective, cohort study, of 3434 children identified as eligible for ND evaluation, 135 were evaluated (4%). Appropriate evaluation was affected by diagnostic bias against coarctation of the aorta (CoArc) and favoring hypoplastic left heart syndrome (HLHS) (1.8 vs. 11.9%, p<0.01). Referrals were disproportionally made by a select group of cardiologists, and the rate of ND appointment non-compliance was higher in self-pay compared to insured patients (78% vs 27%, p<0.01). Potential benefit rate was 70-80% amongst individuals with the three most common diagnoses requiring neonatal surgery (CoArc, transposition of the great arteries, and HLHS). Appropriate ND evaluation in CHD is impacted by diagnosis, provider, and insurance status. Potential benefit of ND evaluation is high regardless of diagnosis. Strategies to improve access to ND evaluations and provider understanding of the at-risk population will likely improve longitudinal ND surveillance and clinical benefit.

Barriers to Sonographer Screening for Fetal Heart Defects: A U.S. National Survey.

OBJECTIVE: We surveyed obstetric sonographers, who are at the forefront of the screening process to determine how barriers to prenatal cardiac screening impacted screening abilities. METHODS: We performed a cross-sectional national survey of obstetric sonographers in the United States using a sampling frame from American Registry of Diagnostic Medical Sonography mailing lists. The web survey measured the ability to obtain and interpret fetal heart images. Several cognitive, sociodemographic, and system-level factors were measured, including intention to perform cardiac imaging. Regression and mediation analyses determined factors associated with intention to perform and ability to obtain and interpret cardiac images. Subgroup analyses of sonographers in tertiary versus nontertiary centers were also performed. RESULTS: Survey response rate either due to noncontact or nonresponse was 40%. Of 480 eligible sonographers, ~30% practiced in tertiary settings. Sonographers had lower intention to perform outflow views compared to 4 chambers. Higher self-efficacy and professional expectations predicted higher odds of intention to perform outflow views (OR 2.8, 95% CI 1.9-4.2 and 1.9, 95% CI 1.1-3.0, respectively). Overall accuracy of image interpretation was 65% (±14%). For the overall cohort and nontertiary subgroup, higher intention to perform outflows was associated with increased accuracy in overall image interpretation. For the tertiary subgroup, self-efficacy and feedback were strongly associated with accuracy. CONCLUSIONS: We identified several modifiable (some heretofore unrecognized) targets to improve prenatal cardiac screening. Priorities identified by sonographers that are associated with screening success should guide future interventions.

Neurobehavioral evaluation of neonates with congenital heart disease: a cohort study.

AIM: To describe neurobehavioral patterns in neonates with congenital heart disease (CHD). METHOD: A cohort study describing neurobehavioral performance of neonates with CHD requiring cardiac surgery. The neonates were evaluated preoperatively and postoperatively with the Neonatal Intensive Care Unit Network Neurobehavioral Scale (NNNS) and scores were compared with published normative values. Clinical factors were obtained by chart review to assess their association with behavior. The CHD NNNS score pattern was compared with previously reported profiles in other high-risk populations. RESULTS: NNNS evaluations were completed on 67 neonates with CHD, resulting in 97 evaluations (50 preoperative, 47 postoperative). Compared with normative values, the cohort with CHD demonstrated decreased attention, regulation, asymmetry, stress, arousal, and excitability, along with increased non-optimal reflexes, lethargy, and need for handling (p<0.05 for all). Additional clinical factors had a minimal effect on the neurobehavioral pattern. Compared with previously published patterns in high-risk neonates without CHD, the cohort with CHD demonstrated a unique pattern of behavior. INTERPRETATION: Neonates with CHD demonstrate different neurobehavioral performance compared with typically developing neonates born at term as well as other high-risk neonates. Our experience suggests there is a unique neonatal neurobehavioral pattern in the hospitalized population with CHD. Targeted neonatal neurobehavioral evaluations may be useful in developing specific therapies to improve neurodevelopmental outcomes in neonates with CHD. WHAT THIS PAPER ADDS: Neonates with congenital heart disease demonstrate different neurobehavioral performance than typically developing neonates. Evaluation of neonatal neurobehavioral performance provides an opportunity to identify neurodevelopmental variability early. Identification of neurobehavioral performance variability allows targeted interactions and therapy.

DMD mutation and LTBP4 haplotype do not predict onset of left ventricular dysfunction in Duchenne muscular dystrophy.

Cardiomyopathy develops in >90% of Duchenne muscular dystrophy (DMD) patients by the second decade of life. We assessed the associations between DMD gene mutations, as well as Latent transforming growth factor-beta-binding protein 4 (LTBP4) haplotypes, and age at onset of myocardial dysfunction in DMD. DMD patients with baseline normal left ventricular systolic function and genotyping between 2004 and 2013 were included. Patients were grouped in multiple ways: specific DMD mutation domains, true loss-of-function mutations (group A) versus possible residual gene expression (group B), and LTBP4 haplotype. Age at onset of myocardial dysfunction was the first echocardiogram with an ejection fraction <55% and/or shortening fraction <28%. Of 101 DMD patients, 40 developed cardiomyopathy. There was no difference in age at onset of myocardial dysfunction among DMD genotype mutation domains (13.7±4.8 versus 14.3±1.0 versus 14.3±2.9 versus 13.8±2.5, p=0.97), groups A and B (14.4±2.8 versus 12.1±4.4, p=0.09), or LTBP4 haplotypes (14.5±3.2 versus 13.1±3.2 versus 11.0±2.8, p=0.18). DMD gene mutations involving the hinge 3 region, actin-binding domain, and exons 45-49, as well as the LTBP4 IAAM haplotype, were not associated with age of left ventricular dysfunction onset in DMD.

Postnatal Outcomes of Fetal Supraventricular Tachycardia: a Multicenter Study.

Supraventricular tachycardia (SVT), the most common fetal tachycardia, can be difficult to manage in utero. We sought to better understand predictors of the postnatal clinical course in neonates who experienced fetal SVT. We hypothesized that fetuses with hydrops or those with refractory SVT (failure of first-line SVT therapy) are more likely to experience postnatal SVT. This was a retrospective multicenter cohort study of subjects diagnosed with fetal SVT between 2006 and 2014. Fetuses with structural heart disease were excluded. Descriptive comparative statistics and univariate analysis with logistic regression were utilized to determine factors that most strongly predicted postnatal SVT and preterm delivery. The cohort consisted of 103 subjects. Refractory SVT was found in 37% (N = 38) of the cohort with this group more likely to be delivered prematurely (median = 36 vs. 37.5 weeks, p = 0.04). Refractory SVT did not increase the risk of postnatal SVT (p = 0.09). Postnatal SVT was seen in 61% (N = 63). Of those, 68% (N = 43) had postnatal SVT at ≤2 days of age. Postnatal SVT was associated with a later fetal SVT diagnosis (median = 30 vs. 27.5 weeks, p = 0.006). We found a strong correlation between postnatal SVT and later gestational age at fetal SVT diagnosis. Subjects with refractory SVT or hydrops did not have a higher risk of postnatal SVT. We propose strong consideration for term delivery in the absence of significant clinical compromise. Further studies to assess whether outcomes vary for preterm delivery versus expectant management in those with refractory SVT should be performed.

Outcomes and Predictors of Perinatal Mortality in Fetuses With Ebstein Anomaly or Tricuspid Valve Dysplasia in the Current Era: A Multicenter Study.

BACKGROUND: Ebstein anomaly and tricuspid valve dysplasia are rare congenital tricuspid valve malformations associated with high perinatal mortality. The literature consists of small, single-center case series spanning several decades. We performed a multicenter study to assess the outcomes and factors associated with mortality after fetal diagnosis in the current era. METHODS AND RESULTS: Fetuses diagnosed with Ebstein anomaly and tricuspid valve dysplasia from 2005 to 2011 were included from 23 centers. The primary outcome was perinatal mortality, defined as fetal demise or death before neonatal discharge. Of 243 fetuses diagnosed at a mean gestational age of 27±6 weeks, there were 11 lost to follow-up (5%), 15 terminations (6%), and 41 demises (17%). In the live-born cohort of 176 live-born patients, 56 (32%) died before discharge, yielding an overall perinatal mortality of 45%. Independent predictors of mortality at the time of diagnosis were gestational age <32 weeks (odds ratio, 8.6; 95% confidence interval, 3.5-21.0; P<0.001), tricuspid valve annulus diameter z-score (odds ratio, 1.3; 95% confidence interval, 1.1-1.5; P<0.001), pulmonary regurgitation (odds ratio, 2.9; 95% confidence interval, 1.4-6.2; P<0.001), and a pericardial effusion (odds ratio, 2.5; 95% confidence interval, 1.1-6.0; P=0.04). Nonsurvivors were more likely to have pulmonary regurgitation at any gestational age (61% versus 34%; P<0.001), and lower gestational age and weight at birth (35 versus 37 weeks; 2.5 versus 3.0 kg; both P<0.001). CONCLUSION: In this large, contemporary series of fetuses with Ebstein anomaly and tricuspid valve dysplasia, perinatal mortality remained high. Fetuses with pulmonary regurgitation, indicating circular shunt physiology, are a high-risk cohort and may benefit from more innovative therapeutic approaches to improve survival.

Novel Cardiac Magnetic Resonance Feature Tracking (CMR-FT) Analysis for Detection of Myocardial Fibrosis in Pediatric Hypertrophic Cardiomyopathy.

Myocardial fibrosis is a risk factor for sudden cardiac death in hypertrophic cardiomyopathy (HCM) and is conventionally identified by cardiac magnetic resonance imaging (CMR) using late gadolinium enhancement (LGE). This study evaluates utility of a novel 16-segment CMR feature tracking (CMR-FT) technique for measuring left ventricular (LV) strain (S) and strain rate (SR) on non-contrast cine images to detect myocardial fibrosis in pediatric HCM. We hypothesized that CMR-FT-derived S and SR will accurately differentiate HCM patients with and without myocardial fibrosis. Consecutive children with HCM who underwent CMR with LGE at our institution from 2006 to 2014 were included. Global and regional longitudinal, radial and circumferential S and SR of the LV in 2D and 3D were obtained using a CMR-FT software. Comparisons were made between HCM patients with (+LGE) and without (-LGE) delayed enhancement. Of the 29 HCM patients (mean age 13.5 ± 6.1 years; 52 % males), 11 (40 %) patients (mean age 17.5 ± 8.4 years) had +LGE. Global longitudinal, circumferential and radial S and SR were lower in +LGE compared to -LGE patients, in both 2D and 3D. Regional analysis revealed lower segmental S and SR in the septum with fibrosis compared to free wall without fibrosis. A global longitudinal S of ≤ -12.8 had 91 % sensitivity and 89 % specificity for detection of LGE. In pediatric HCM patients with myocardial fibrosis, global LV longitudinal, circumferential and radial S and SR were reduced, specifically in areas of fibrosis. A global longitudinal S of ≤ -12.8 detected patients with fibrosis with high degree of accuracy. This novel CMR-FT technique may be useful to identify myocardial fibrosis and risk-stratify pediatric HCM without use of contrast agents.

Regional circumferential strain is a biomarker for disease severity in duchenne muscular dystrophy heart disease: a cross-sectional study.

The aim of this study is to determine the contribution of strain ε cc in mid left ventricular (LV) segments to the reduction of composite LV circumferential ε cc in assess severity of duchenne muscular dystrophy (DMD) heart disease as assessed by cardiac magnetic resonance imaging (CMR). DMD patients and control subjects were stratified by age, LV ejection fraction, and late gadolinium enhancement (LGE) status. Tagged CMR images were analyzed for global ventricular function, LGE imaging, and composite and segmental ε cc. The relationship between changes in segmental ε cc changes and LGE across patient groups was assessed by a statistical step-down model. LV ε cc exhibited segmental heterogeneity; in control subjects and young DMD patients, ε cc was greatest in LV lateral free wall segments. However, with increasing age and cardiac disease severity as demonstrated by decreased EF and development of myocardial strain the segmental differences diminished. In subjects with advanced heart disease as evidenced by reduced LV ejection fraction and presence of LGE, very little segmental heterogeneity was present. In control subjects and young DMD patients, ε cc was greatest in LV lateral free wall segments. Increased DMD heart disease severity was associated with reduced composite; ε cc diminished regional ε cc heterogeneity and positive LGE imaging. Taken together, these findings suggest that perturbation of segmental, heterogeneous ε cc is an early biomarker of disease severity in this cross-section of DMD patients.

Umbilical artery systolic to diastolic ratio is associated with growth and myocardial performance in infants with hypoplastic left heart syndrome.

OBJECTIVE: Despite standardization in care, heterogeneity in outcomes persists for infants with hypoplastic left heart syndrome (HLHS). One potential factor is in utero stressors. Uteroplacental insufficiency (UPI) induces systemic vascular and myocardial adaptations in the absence of structural heart disease. The effect of UPI in HLHS is unknown. METHODS: We retrospectively analyzed infants undergoing Norwood palliation for HLHS from 2007 to 2012. We compared the umbilical artery systolic to diastolic (SD) ratio to growth outcomes and postoperative right ventricular function. RESULTS: Forty three infants met our inclusion criteria. Fetuses without a declining SD ratio with advancing gestational age had asymmetric birth biometry, defined as birth weight minus head circumference z scores (-0.9 vs -0.05, p < 0.01). The SD ratio near the end of gestation negatively correlated with asymmetric birth biometry (R = -0.521, p < 0.01) and interstage growth (R = -0.49, p = 0.04). Males with higher SD ratios had a greater postoperative incidence of abnormal right ventricular function. CONCLUSIONS: A higher umbilical artery SD ratio was associated with asymmetric prenatal growth, poor weight gain, and decreased myocardial performance in infants with HLHS. Better understanding of UPI's effects on cardiovascular development and metabolism in HLHS will help identify new strategies for targeting morbidity in this high risk population.

Abnormal abdominal aorta hemodynamics are associated with necrotizing enterocolitis in infants with hypoplastic left heart syndrome.

The risk of necrotizing enterocolitis (NEC) in association with congenital heart disease is highest in patients with hypoplastic left heart syndrome (HLHS). Within the HLHS population, however, risk factors for NEC remain debated. We hypothesized that some infants with HLHS have vascular changes that contribute to gut hypoperfusion independent of diastolic runoff and low cardiac output. We analyzed the abdominal aorta pulsatility index and right-ventricular function on routine preoperative and postoperative echocardiograms for all infants who underwent stage I palliation for HLHS from January 2007 to January 2012. The echocardiography findings and clinical course were compared between those with and those without an episode of NEC. Of the 61 cases reviewed, 11 (18 %) developed NEC during a mean follow-up of 3.8 ± 1.3 years. Those with NEC had a lower abdominal aorta pulsatility index compared with those without NEC both on stage I preoperative (3.38 ± 0.15 vs. 3.89 ± 0.09, p < 0.05) and postoperative echocardiograms (2.21 ± 0.28 vs. 3.05 ± 0.78, p = 0.01) despite similar ventricular function and operative risk. Abdominal aorta Doppler pulsations are lower in patients with HLHS whose clinical course is complicated by NEC. This finding suggests that the systemic vasculature in a subset of neonates with HLHS may be inherently abnormal. Further investigation is warranted to determine if this is secondary to structural changes in the mesenteric and/or systemic vasculature.

Admission to a dedicated cardiac intensive care unit is associated with decreased resource use for infants with prenatally diagnosed congenital heart disease.

Many factors in the delivery and perinatal care of infants with a prenatal diagnosis of congenital heart disease (CHD) have an impact on outcome and costs. This study sought to determine the modifiable factors in perinatal management that have an impact on postnatal resource use for infants with CHD. The medical records of infants with prenatally diagnosed CHD (August 2006-December 2011) who underwent cardiac surgery before discharge were reviewed. The exclusion criteria ruled out prematurity and intervention or transplantation evaluation before surgery. Clinical characteristics, outcomes, and cost data were collected. Multivariate linear regression models were used to determine the impact of perinatal decisions on hospitalization cost and surrogates of resource use after adjustment for demographic and other risk factors. For the 126 patients who met the study criteria, the median hospital stay was 22 days (range 4-122 days), and the median inflation-adjusted total hospital cost was $107,357 (range $9,746-602,320). The initial admission to the neonatal versus the cardiac intensive care unit (NICU vs. CICU) was independently associated with a 19 % longer hospital stay, a 26 % longer ICU stay, and 47 % more mechanical ventilation days after adjustment for Risk Adjustment for Congenital Heart Surgery, version 1 score, gestation age, genetic abnormality, birth weight, mode of delivery, and postsurgical complications. Weekend versus weekday delivery was not associated with hospital cost or length of hospital stay. For term infants with prenatally diagnosed CHD undergoing surgery before discharge, preoperative admission to the NICU (vs. the CICU) resulted in a longer hospital stay and greater intensive care use. Prenatal planning for infants with CHD should consider the initial place of admission as a modifiable factor for potential lowering of resource use.

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.

Regional and global myocardial deformation of the fetal right ventricle in hypoplastic left heart syndrome.

OBJECTIVE: Quantification of fetal right ventricular (RV) function by 2D-echocardiography is challenging. Velocity vector imaging (VVI) is an angle independent speckle tracking technique that assesses regional myocardial mechanics. Alteration in the deformation of the fetal RV in hypoplastic left heart syndrome (HLHS) is unknown. This study aimed to evaluate the regional mechanics of the fetal RV in HLHS. METHODS: We retrospectively analyzed HLHS fetuses imaged at our center. Velocity, strain and strain rate were obtained using VVI. Global and regional parameters of RV deformation were compared between HLHS fetuses and gestational age matched controls. RESULTS: A total of 30 HLHS fetuses and 30 gestational age matched controls were analyzed. The mean gestational age was 30.5 ± 3.5 weeks. Global myocardial strain was significantly decreased in HLHS RVs compared to controls (-1.9% vs. -4.1%, p = 0.003). The volume of the hypoplastic left ventricle did not affect RV deformation in HLHS. CONCLUSIONS: Compared to controls, the RV in HLHS fetuses has decreased systolic strain. Prenatal abnormalities in RV myocardial deformation may be responsible for inefficient cardiac performance and output. RV myocardial performance in HLHS can be measured prenatally and may be predictive of post-natal RV dysfunction.

Prenatally diagnosed coarctation: a more sinister disease?

Prenatal diagnosis of coarctation may improve survival, but little is known regarding its association with severity of left heart hypoplasia and surgical outcome. This study compared echocardiographic measurements of left heart structures, surgical strategies, and postoperative outcomes between neonates with a prenatal diagnosis of coarctation and those with a postnatal diagnosis. All the neonates who underwent coarctation repair during 2006-2010 were reviewed. The neonates with complex congenital heart disease or an unrestrictive ventricular septal defect requiring cardiopulmonary bypass (CPB) for closure were excluded from the study. Based on the time of diagnosis, the subjects were divided into the following three groups: group 1 (prenatal diagnosis), group 2 (diagnosis at 0-7 days), and group 3 (diagnosis at 8-28 days). The study population consisted of 46 neonates: 14 in group 1, 14 in group 2, and 18 in group 3. Compared with group 3, group 1 had a smaller left ventricular volume index, lower mitral and aortic valve diameter z-scores, and lower transverse arch z-scores. Compared with group 2, group 1 had smaller aortic valve z-scores but otherwise had similar measurements. At repair, 64 % of the neonates in group 1 required CPB versus 29 % in group 2 (p = 0.12) and 22 % in group 3 (p = 0.03). All the neonates underwent biventricular repair, with no surgical mortality. Group 1 had a hospital stay of 13.4 ± 10.8 versus 7.5 ± 4.2 days in group 2 (p = 0.06) and 7.3 ± 4.5 days in group 3 (p = 0.03). The neonates with prenatally diagnosed coarctation had smaller left heart structures than the neonates with coarctation diagnosed after the first week of age, were more likely to require extensive arch reconstruction under CPB, and had longer hospital stays.

An explainable artificial intelligence approach for predicting cardiovascular outcomes using electronic health records.

Understanding the conditionally-dependent clinical variables that drive cardiovascular health outcomes is a major challenge for precision medicine. Here, we deploy a recently developed massively scalable comorbidity discovery method called Poisson Binomial based Comorbidity discovery (PBC), to analyze Electronic Health Records (EHRs) from the University of Utah and Primary Children's Hospital (over 1.6 million patients and 77 million visits) for comorbid diagnoses, procedures, and medications. Using explainable Artificial Intelligence (AI) methodologies, we then tease apart the intertwined, conditionally-dependent impacts of comorbid conditions and demography upon cardiovascular health, focusing on the key areas of heart transplant, sinoatrial node dysfunction and various forms of congenital heart disease. The resulting multimorbidity networks make possible wide-ranging explorations of the comorbid and demographic landscapes surrounding these cardiovascular outcomes, and can be distributed as web-based tools for further community-based outcomes research. The ability to transform enormous collections of EHRs into compact, portable tools devoid of Protected Health Information solves many of the legal, technological, and data-scientific challenges associated with large-scale EHR analyses.

Contemporary Outcomes in Tetralogy of Fallot With Absent Pulmonary Valve After Fetal Diagnosis.

Background Tetralogy of Fallot with absent pulmonary valve is associated with high mortality, but it remains difficult to predict outcomes prenatally. We aimed to identify risk factors for mortality in a large multicenter cohort. Methods and Results Fetal echocardiograms and clinical data from 19 centers over a 10-year period were collected. Primary outcome measures included fetal demise and overall mortality. Of 100 fetuses, pregnancy termination/postnatal nonintervention was elected in 22. Of 78 with intention to treat, 7 (9%) died in utero and 21 (27%) died postnatally. With median follow-up of 32.9 months, no deaths occurred after 13 months. Of 80 fetuses with genetic testing, 46% had chromosomal abnormalities, with 22q11.2 deletion in 35%. On last fetal echocardiogram, at a median of 34.6 weeks, left ventricular dysfunction independently predicted fetal demise (odds ratio [OR], 7.4; 95% CI 1.3, 43.0; P=0.026). Right ventricular dysfunction independently predicted overall mortality in multivariate analysis (OR, 7.9; 95% CI 2.1-30.0; P=0.002). Earlier gestational age at delivery, mediastinal shift, left ventricular/right ventricular dilation, left ventricular dysfunction, tricuspid regurgitation, and Doppler abnormalities were associated with fetal and postnatal mortality, although few tended to progress throughout gestation on serial evaluation. Pulmonary artery diameters did not correlate with outcomes. Conclusions Perinatal mortality in tetralogy of Fallot with absent pulmonary valve remains high, with overall survival of 64% in fetuses with intention to treat. Right ventricular dysfunction independently predicts overall mortality. Left ventricular dysfunction predicts fetal mortality and may influence prenatal management and delivery planning. Mediastinal shift may reflect secondary effects of airway obstruction and abnormal lung development and is associated with increased mortality.

Maternal Predictors of Disparate Outcomes in Children With Single Ventricle Congenital Heart Disease.

Background Significant variability in morbidity and mortality persists for children with functionally single ventricle congenital heart disease (SV-CHD) despite standardization in medical and surgical care. We hypothesized that maternal health factors may be associated with an increased risk of poor outcomes in children with SV-CHD. Methods and Results This retrospective, observational, cohort study included term maternal-infant pairs with a diagnosis of SV-CHD who underwent surgical palliation from 2006 to 2015 at Primary Children's Hospital. Pairs lacking maternal variables of interest or infant follow-up data were excluded. The association of maternal risk factors of abnormal pre-pregnancy body mass index, abnormal gestational weight gain (<7 or >20 kg), hypertensive disorders, and gestational diabetes mellitus with death/transplant and hemodynamics were analyzed using regression models. Of 190 infants, 135 (71%) maternal-infant dyads had complete data for inclusion. Death or transplant occurred in 48 infants (36%) during an average follow-up of 2.2 years (0.1-11.7 years). Abnormal gestational weight gain was associated with an increased risk of death and/or transplant in logistic regression (odds ratio, 3.22; 95% CI, 1.32-7.86; P=0.01), but not Cox regression (hazard ratio, 1.9; 95% CI, 1.0-3.7; P=0.055). Mean pulmonary artery pressures were higher in the setting of abnormal gestational weight gain (16.5±2.9 versus 14.7±3.0 mm Hg; P<0.001), and abnormal pre-pregnancy body mass index (15.7±3.5 versus 14.2±2.1 mm Hg; P<0.001) in the systemic right ventricle group. Conclusions Abnormal gestational weight gain (excessive or inadequate) is a novel risk factor for worse outcomes in SV-CHD. The fetoplacental environment may alter the trajectory of vascular development to impact outcomes in infants with SV-CHD.