Fetal Diagnosis of Supravalvular Aortic Stenosis and Pulmonary Stenosis in a Family with Non-Syndromic Elastin Mutation.

Supravalvular aortic stenosis (SVAS) has been well described in Williams-Beuren Syndrome and non-syndromic elastin (ELN) mutations. Non-syndromic ELN mutations are inherited in an autosomal dominant pattern with incomplete penetrance and variable expressivity. ELN haploinsufficiency leads to progressive arteriopathy, typically affecting the aortic sinotubular junction. Multi-level pulmonary stenosis has also been reported and biventricular obstruction may portend a worse prognosis. Fetal presentation of ELN mutation with SVAS has not been previously reported in the literature. We present a case of fetal diagnosis of SVAS and multi-level pulmonary stenosis in a family with a known pathogenic ELN mutation (Exon 6, c.278del [p.Pro93Leufs*29]). On the fetus' initial fetal echo, there was only mild flow acceleration through the aortic outflow tract, however, she went on to develop progressive bilateral obstruction. In the early post-natal period, the child was clinically asymptomatic and showed similar mild SVAS and mild valvar and supravalvular pulmonary stenosis. Our case highlights the need for serial monitoring of fetuses with suspected or confirmed ELN arteriopathy.

Prospective Evaluation of High Titer Autoantibodies and Fetal Home Monitoring in the Detection of Atrioventricular Block Among Anti-SSA/Ro Pregnancies.

OBJECTIVE: This prospective study of pregnant patients, Surveillance To Prevent AV Block Likely to Occur Quickly (STOP BLOQ), addresses the impact of anti-SSA/Ro titers and utility of ambulatory monitoring in the detection of fetal second-degree atrioventricular block (AVB). METHODS: Women with anti-SSA/Ro autoantibodies by commercial testing were stratified into high and low anti-52-kD and/or 60-kD SSA/Ro titers applying at-risk thresholds defined by previous evaluation of AVB pregnancies. The high-titer group performed fetal heart rate and rhythm monitoring (FHRM) thrice daily and weekly/biweekly echocardiography from 17-26 weeks. Abnormal FHRM prompted urgent echocardiography to identify AVB. RESULTS: Anti-52-kD and/or 60-kD SSA/Ro met thresholds for monitoring in 261 of 413 participants (63%); for those, AVB frequency was 3.8%. No cases occurred with low titers. The incidence of AVB increased with higher levels, reaching 7.7% for those in the top quartile for anti-60-kD SSA/Ro, which increased to 27.3% in those with a previous child who had AVB. Based on levels from 15 participants with paired samples from both an AVB and a non-AVB pregnancy, healthy pregnancies were not explained by decreased titers. FHRM was considered abnormal in 45 of 30,920 recordings, 10 confirmed AVB by urgent echocardiogram, 7 being second-degree AVB, all <12 hours from normal FHRM and within another 0.75 to 4 hours to echocardiogram. The one participant with second/third-degree and two participants with third-degree AVB were diagnosed by urgent echocardiogram >17 to 72 hours from an FHRM. Surveillance echocardiograms detected no AVB when the preceding interval FHRM recordings were normal. CONCLUSION: High-titer antibodies are associated with an increased incidence of AVB. Anti-SSA/Ro titers remain stable over time and do not explain the discordant recurrence rates, suggesting that other factors are required. Fetal heart rate and rhythm (FHRM) with results confirmed by a pediatric cardiologist reliably detects conduction abnormalities, which may reduce the need for serial echocardiograms.

Efficacy of a Longitudinal Project-Based Quality Improvement Curriculum in Pediatric Cardiology Fellowship.

Quality improvement knowledge is a requirement of fellowship training. Our goal was to evaluate the efficacy of a 3-year quality improvement and patient safety (QI/PS) curriculum that gives fellows both didactic knowledge and first-hand experience with improvement science, and meets Clinical Learning Environment Review (CLER) requirements. Knowledge assessment is obtained through pre- and post-surveys. A secondary measure of success is academic products resulting from fellows' QI/PS work, and future participation in QI/PS efforts. Since 2019, 51 pre-tests and 36 post-tests were completed, showing improvement across all competencies. Fellows have produced one published manuscript, two poster presentations, and two oral presentations describing their improvement work. Additionally, mentoring faculty members have gone on to lead other QI work throughout the division. This longitudinal QI/PS curriculum provides both knowledge and experience in QI/PS work. It also creates opportunities for academic publications and presentations, builds faculty expertise, and most importantly, works to improve multiple aspects of patient care. This curriculum can serve as a model for other cardiology fellowships working to meet CLER requirements.

Hope is No Plan: Uncovering Actively Missing Transition-Aged Youth with Congenital Heart Disease.

Studies describing gaps in care for youth with congenital heart disease (CHD), focus on those who have returned to care, but rarely those actively missing from care. Our objective was to determine barriers for young adults with CHD actively missing from cardiac care and to re-engage them in care. Retrospective single-center cohort study of cardiology clinic patients ages 15-21 years with CHD between 2012 and 2019 for patients actively missing from care (≥ 12 months beyond requested clinic follow-up). We conducted prospective interviews, offered clinic scheduling information, and recorded cardiac follow-up. Data analyzed using descriptive statistics, univariable, and multivariable logistic regression. Of 1053 CHD patients, 33% (n = 349) were actively missing. Of those missing, 58% were male and median age was 17 years (IQR 16-19). Forty-six percent were Non-Hispanic White, 33% Hispanic, and 9% Black. Moderately complex CHD was in 71%, and 62% had private insurance. Patients with simple CHD, older age at last encounter (18-21), and scheduled follow-up > 12 months from last encounter were more likely to be actively missing. Interviews were completed by 125 patients/parents (36%). Lack of cardiac care was reported in 52%, and common barriers included: insurance (33%), appointment scheduling (26%), and unknown ACHD center care (15%). Roughly half (55%) accepted appointment information, yet only 3% successfully returned. Many patients require assistance beyond CHD knowledge to maintain and re-engage in care. Future interventions should include scheduling assistance, focused insurance maintenance, understanding where to obtain ACHD care, and educating on need for lifelong care.

NAFTNet retrospective report on the treatment of anti-Ro/SSA mediated fetal heart block with dexamethasone.

BACKGROUND: Complete atrioventricular block (CAVB) is a complication of maternal antibody positivity and treatment of fetal disease is controversial in terms of efficacy and safety. We hypothesized that dexamethasone treatment for fetal anti-Ro/SSA antibody-mediated cardiac disease leads to better pregnancy outcomes than expectant management. METHODS: A retrospective multi-center cohort study of anti-Ro/SSA antibody positive pregnancies with fetal conduction disease reported by participating North American Fetal Therapy Network (NAFTNet) centers between January 2010 and December 2018. The primary outcomes included: fetal death, oligohydramnios, growth restriction, preterm delivery, and new maternal comorbidities. Secondary outcomes included: pacemaker prior to 28 days, transplantation, and neonatal death in maternal/fetal dyads treated with dexamethasone versus not. RESULTS: In 127 anti-Ro/SSA positive pregnancies, 98 were treated with dexamethasone and 29 were not. Of those treated, 61/96 (63.5%) met the primary outcome including 45/91 (49.4%) premature deliveries; 20 mothers developed comorbidities during treatment (fetal death 5, 10 growth restriction, 14 oligohydramnios, two new/worsening gestational diabetes). In the untreated group, 15/25 (60%) met the primary outcome including 11/22 (50%) premature deliveries and four mothers developing comorbidities during their pregnancy (fetal death 3, one growth restriction, one new onset maternal hypertension). Regarding secondary outcomes, 37/96 (43%) treated fetuses required a pacemaker or died by 28 days, while untreated 13/25 (52%) required pacemaker placement, died prior to 28 days or required listing for transplantation. Excluding terminations, survival without transplant was 17 (68%) in untreated and 85 (89%) in treated patients (p<.01). CONCLUSIONS: While the use of dexamethasone in anti-Ro/SSA positive pregnancies is associated with a high rate of poor pregnancy outcomes, there was an unexpected similarly high rate in untreated positive pregnancies. This suggests that the maternal disease itself is influencing pregnancy complications independent of dexamethasone. Our data, which show that treatment decreases neonatal morbidity and overall mortality without increasing overall pregnancy complications, warrant further study.

Comprehensive Improvement of Cardiology Inpatient Transfers: A Bed-availability Triggered Approach.

Introduction: Patient transfers pose a potential risk during hospitalizations. Structured communication practices are necessary to ensure effective handoffs, but occur amidst competing priorities and constraints. We sought to design and implement a multidisciplinary process to enhance communication between pediatric cardiovascular intensive care unit and cardiology floor teams with a comprehensive approach evaluating efficiency, safety, and culture. Methods: We conducted a prospective quality improvement study to enact a bed-availability triggered bedside handoff process. The primary aim was to reduce the time between handoff and unit transfer. Secondary metrics captured the impact on safety (reported safety events, overnight transfers, bounce backs, and I-PASS utilization), efficiency (transfer latency, unnecessary patient handoffs, and cumulative time providers were engaged in handoffs), and culture (team members perceptions of satisfaction, collaboration, and handoff efficiency via survey data). Results: Eighty-two preimplementation surveys, 26 stakeholder interviews, and 95 transfers were completed during the preintervention period. During the postintervention period, 145 handoffs were audited. We observed significant reductions in transfer latency, unnecessary handoffs, and cumulative provider handoff time. Overnight transfers decreased, and no negative impact was observed in reported safety events or bouncebacks. Survey results showed a positive impact on collaboration, efficiency, and satisfaction among team members. Conclusions: Developing safer handoff practices require a collaborative, structured, and stepwise approach. Advances are attainable in high-volume centers, and comprehensive measurement of change is necessary to ensure a positive impact on the overall patient and provider environment.

Levels of Growth Factors and IgA in the Colostrum of Women from Burundi and Italy.

Colostrum is produced in the first days postpartum. It is a known source of immune mediators for a newborn within the first week of life. Although it is still unclear if colostrum composition varies between populations, recent data suggest differences. Hepatocyte growth factor (HGF); transforming growth factor-ß (TGF-ß) 1, 2, and 3; and immunoglobulin A (IgA) are key immunological components of colostrum that stimulate neonatal gastrointestinal and immune system development. We aimed to investigate the differences in the concentration between immune markers in the colostrum of mothers living in Burundi and Italy, and to identify the factors associated with differences. In this cross-sectional birth cohort study, a total of 99 colostrum samples from Burundian (n = 23) and Italian (n = 76) women were collected at 0 to 6 days postpartum. A clinical chemistry analyser was used for IgA quantification and electro-chemiluminescence, for HGF and TGFß1-3 assessment. A univariate analysis and multivariate linear regression model were used for statistical testing. The concentrations of TGF-ß2 (p = 0.01) and IgA (p < 0.01) were significantly higher in the colostrum from the women residing in Burundi than in Italy, both in a univariate analysis and upon the adjustment for confounding factors. A similar trend is seen for HGF, reaching statistical significance upon a multivariate analysis. We found a moderate to strong positive correlation between the TGF-ß isoforms and IgA concentration in both countries (p < 0.01), with stronger concentration in the colostrum from Burundi. The results of this study are in support of previous data, suggesting that concentration of the immune active molecules is higher in the human milk of women residing in developing countries. However, with a small sample size, caution must be applied, as the findings require further confirmation. Future work should also be focused on other factors (e.g., lipid and microbial composition), as well as the investigation into colostrum and between populations comparison, adjusting for potential confounders.

Colostrum and Mature Human Milk of Women from London, Moscow, and Verona: Determinants of Immune Composition.

Cytokines and growth factors in colostrum and mature milk may play an important role in infant immune maturation, and may vary significantly between populations. We aimed to examine associations between environmental and maternal factors, and human milk (HM) cytokine and growth factor levels. We recruited 398 pregnant/lactating women in the United Kingdom, Russia, and Italy. Participants underwent skin prick testing, questionnaire interview, and colostrum and mature milk sampling. HM cytokine and growth factor levels were quantified by electro-chemiluminescence. We found significant geographical variation in growth factor levels, but no evidence of variation between sites in cytokine detectability. There was an inverse correlation between time of milk sampling and growth factor levels in colostrum for Hepatocyte Growth Factor (HGF) and TGFß1 and TGFß3, but not TGFß2, and levels were significantly higher in colostrum than mature milk for all growth factors. The kinetics of decline were different for each growth factor. Cytokines were present at much lower levels than growth factors, and the decline over time was less consistent. HM growth factors and cytokine levels vary between populations for unknown reasons. Levels of HM mediators decline at different rates postpartum, and these findings suggest specific biological roles for HM growth factors and cytokines in early postnatal development.

Changes in Efficiency and Safety Culture After Integration of an I-PASS-Supported Handoff Process.

BACKGROUND AND OBJECTIVES: Recent publications have shown improved outcomes associated with resident-to-resident handoff processes. However, the implementation of similar handoff processes for patients moving between units and teams with expansive responsibilities presents unique challenges. We sought to determine the impact of a multidisciplinary standardized handoff process on efficiency, safety culture, and satisfaction. METHODS: A prospective improvement initiative to standardize handoffs during patient transitions from the cardiovascular ICU to the acute care unit was implemented in a university-affiliated children's hospital. RESULTS: Time between verbal handoff and patient transfer decreased from baseline (397 ± 167 minutes) to the postintervention period (24 ± 21 minutes) (P < .01). Percentage positive scores for the handoff/transitions domain of a national culture of safety survey improved (39.8% vs 15.2% and 38.8% vs 19.6%; P = .005 and 0.03, respectively). Provider satisfaction improved related to the information conveyed (34% to 41%; P = .03), time to transfer (5% to 34%; P < .01), and overall experience (3% to 24%; P < .01). Family satisfaction improved for several questions, including: "satisfaction with the information conveyed" (42% to 70%; P = .02), "opportunities to ask questions" (46% to 74%; P < .01), and "Acute Care team's knowledgeabout my child's issues" (50% to 73%; P = .04). No differences in rates of readmission, rapid response team calls, or mortality were observed. CONCLUSIONS: Implementation of a multidisciplinary I-PASS-supported handoff process for patients transferring from the cardiovascular ICU to the acute care unit resulted in improved transfer efficiency, safety culture scores, and satisfaction of providers and families.

Validation of the Innocor device for noninvasive measurement of oxygen consumption in children and adults.

Outpatient measurements of oxygen consumption (VO2) and cardiac output (CO) are valuable in the management of pediatric cardiac disease. Current methods are inaccurate and cumbersome or require invasive procedures. New devices to measure these variables in adults have not been rigorously tested for children. The Innocor system uses a photoacoustic analyzer to measure gas content for noninvasive measurement of VO2 and CO. This study sought to validate Innocor-derived VO2 measurements in children and adults by comparing them against the gold standard Douglas bag method. Subjects were tested in an outpatient setting. Adaptations were made for pediatric patients based on weight. Resting VO2 measurements were obtained simultaneously by the Innocor system and Douglas bag during 3 min. The study enrolled 31 children (mean age, 12.2 years; range, 7-17 years, 17 girls) and 29 adults (mean age, 36.7 years; range, 19-57 years; 17 women). Strong correlation between the two techniques was seen for both the adults (R (2) = 0.88) and the children (R (2) = 0.82). The average discrepancy between the Innocor and Douglas bag measurements was 1.7 % (range, 0.6-19.1 %) for the adults, and 5.4 % (range, 0.1-32.2 %) for the children. The discrepancy was more than 15 % for 17 % of the adults and 22 % of the children, with the Innocor device tending to overestimate VO2 in children compared with the Douglas bag. This trend was not seen in adults. The Innocor system has excellent correlation with the Douglas bag and shows promise for noninvasive measurement of VO2 and CO in the school-age pediatric population.