Rate Of Congenital Heart Disease Research Articles

Factors affecting the accuracy of fetal cardiac ultrasound screening in the first trimester of pregnancy.

Most studies on the performance of first-trimester cardiac screening have concentrated on comparing the detection rate between different protocols and not on the actual reason for false-negative results. Herein, we report the performance of first-trimester congenital heart disease (CHD) screening and factors that may affect the detection rate of CHDs. This retrospective observational study included patients who underwent first-trimester screening and subsequently gave birth at our facility. We analyzed the performance of first-trimester screening for CHD and major CHD (CHD requiring cardiac surgery or interventional catheterization within 12months of birth). Of the 6614 fetuses included, 53 had CHD and 35 had major CHD. For the prenatal diagnosis of CHD, the detection rate, specificity, positive predictive value, negative predictive value, and first-trimester detection rate for CHD were 64.1%, 99.9%, 94.4%, 99.7%, and 82.9%, respectively; the respective values for major CHD were 85.7%, 99.96%, 93.75%, 99.92%, and 85.7%. The detection rate was not significantly different when classified by crown-rump length or number of fetuses. A weak correlation was observed between low detection rate of major CHD and lower maternal body mass index (BMI) (correlation ratio: 0.17). The detection rate was significantly higher when the fetus was scanned with its spine at the 5-7 o'clock position (posterior spine) than at other positions (odds ratio: 3.82, 95% confidence interval: 1.16-12.5, p = 0.02). Posterior spine contributes to an improved diagnostic rate in first-trimester CHD screening. In addition, sonographers must recognize that low maternal BMI is a risk factor of false-negative results.

Dynamic sequential cross-sectional scanning increases detection rate of congenital heart disease in sonographers: a prenatal ultrasound training program

BackgroundPrenatal ultrasound is the preferred modality for diagnosing fetal congenital heart disease. Given issues of physician proficiency and hospital distribution, we propose a dynamic sequential cross-sectional scanning (SCS) to explore the feasibility of cardiac screening by sonographers with less than 5 years of experience in ultrasound.Materials and methodsTwenty residents were randomly divided into two groups, receiving training in the American Institute of Ultrasound in Medicine (AIUM) fetal echocardiography and the SCS method. According to the needs of training, the professional staff developed the theoretical knowledge question bank, the CHD ultrasonic video disease bank, and the assessment scale. Trainees completed the pre-training examination, theory and skill operation training, and post-training assessment. For the two groups, the theoretical knowledge, skill operation and disease diagnosis were analyzed statistically before and after training.ResultsAfter training, the trainees in both groups had significantly improved knowledge and diagnostic abilities, their diagnostic thinking about CHD was clear, and they could identify major or even all structural abnormalities and make a definite diagnosis. In terms of skill operation, both groups could complete all required scanning within the specified time. The scanning time of the SCS group was significantly lower than that of the AIUM group, and the effect of the receptor site in the AIUM group was significantly higher than that in the SCS group.ConclusionSCS can be used as a new rapid fetal cardiac scanning method and try to popularize among echocardiographer.

The association of increased incidence of congenital heart disease in newborns with maternal COVID-19 infection during pregnancy

This paper aims to examine the potential link between maternal COVID-19 infection during pregnancy and the increased risk of congenital heart disease (CHD) in newborns. A comparative analysis was conducted involving two groups: mothers infected with COVID-19 during pregnancy and a control group. Data on maternal characteristics, pregnancy-related complications, and newborn outcomes were collected and analyzed. Additionally, the annual incidence rates of CHD from 2020 to 2023 were evaluated to assess trends over time. No significant differences were found between the COVID-19 cases and the control group in terms of maternal age, BMI, gravidity, parity, use of assisted reproductive technology, adverse obstetric history, or complications during pregnancy, including diabetes mellitus, preeclampsia, and thyroid abnormalities. For newborn outcomes, there were no significant differences in sex distribution, rate of cesarean delivery, Apgar scores, or birth weight. However, a significantly higher prevalence of cardiac ultrasound abnormalities was observed in the COVID-19 group (10.08%) compared to the control group (4.13%, p = 0.012). Further analysis revealed that the majority of cardiac abnormalities in the COVID-19 group occurred in mothers infected before 8 weeks of pregnancy. The annual incidence rates of CHD showed a significant increase during the COVID-19 pandemic, with the highest rate in 2023 (5.46%) compared to previous years. Maternal COVID-19 infection during pregnancy may adversely affect the development of the newborn’s heart. This could be due to the inflammatory response caused by the viral infection or other pathological processes. The findings underscore the importance of vigilant prenatal care and early detection of cardiac abnormalities during the pandemic and suggest the need for further research to explore potential mechanisms and intervention strategies.

Maternal and Perinatal Outcomes in Pregnant Women with Heart Disease: A Case-Control Study.

Objective: We analyzed the obstetric and cardiac characteristics and results of pregnant women with heart disease (HD) and compared their results with those of healthy controls. Methods: In this retrospective single-center case-control study, women with HD attended between 2010 and 2018 were matched at a 1:2 ratio (according to date of delivery, parity, and singleton or twin pregnancy) with controls without heart disease treated in the same referral center. Results: We identified 141 pregnant women with HD, of whom 132 reached 22 weeks of gestation and were paired with 264 healthy controls, for a total of 396 participants and 408 newborns. Most common HDs were congenital HD (53 women), arrhythmia (46), valvular HD (35), and cardiomyopathy (16), having women with more than one coexisting HD. During pregnancy or the puerperium, 19.9% of mothers experienced a major adverse cardiac event (MACE), with 5% requiring intensive care unit (ICU) admission. The rates of cesarean section were 37.1% in the case group and 18.2% in the control group, with an odds ratio (OR) of 2.66 (95% CI = 1.66-4.26, p < 0.001). We also found a higher use of general anesthesia, with an OR of 10.73 (95% CI = 2.32-49.75, p = 0.002); more prolonged hospitalizations, with an OR of 2.91 (95% CI 1.02-8.35, p = 0.023); and a higher incidence of low neonatal weight, with an OR of 1.96 (95% CI 1.09-3.52, p = 0.012). There were no differences between groups in terms of gestational age at delivery; however, we observed greater prematurity in women with HD, without reaching statistical significance. The rate of congenital heart disease among the newborns of mothers with HD was 13.2%. Conclusions: HD increases maternal morbidity during pregnancy and it is associated with higher rates of cesarean section and low birth weight.

SMC3 contributes to heart development by regulating super-enhancer associated genes

Abnormal cardiac development has been observed in individuals with Cornelia de Lange syndrome (CdLS) due to mutations in genes encoding members of the cohesin complex. However, the precise role of cohesin in heart development remains elusive. In this study, we aimed to elucidate the indispensable role of SMC3, a component of the cohesin complex, in cardiac development and its underlying mechanism. Our investigation revealed that CdLS patients with SMC3 mutations have high rates of congenital heart disease (CHD). We utilized heart-specific Smc3-knockout (SMC3-cKO) mice, which exhibit varying degrees of outflow tract (OFT) abnormalities, to further explore this relationship. Additionally, we identified 16 rare SMC3 variants with potential pathogenicity in individuals with isolated CHD. By employing single-nucleus RNA sequencing and chromosome conformation capture high-throughput genome-wide translocation sequencing, we revealed that Smc3 deletion downregulates the expression of key genes, including Ets2, in OFT cardiac muscle cells by specifically decreasing interactions between super-enhancers (SEs) and promoters. Notably, Ets2-SE-null mice also exhibit delayed OFT development in the heart. Our research revealed a novel role for SMC3 in heart development via the regulation of SE-associated genes, suggesting its potential relevance as a CHD-related gene and providing crucial insights into the molecular basis of cardiac development.

Assessment of Cardiac Anomalies in Pediatric Patients with Pectus Carinatum

Background: Pectus carinatum (PC) is an anterior thoracic visible deformity manifested by protrusion of the sternum. It can be an isolated chest deformity or it can be seen together with genetic pathologies. Methods: We analyzed the cardiac findings of 40 children who were diagnosed with pectus carinatum at Kahramanmaras Sutcu Imam University’s Thoracic Surgery Outpatient Clinic between 1 February 2021 and 1 February 2022 and 97 healthy controls in similar age groups. Results: The Pectus Carinatum patients had higher rates of cardiac malposition, MVP (Mitral valve prolapse), MI (mitral insufficiency), TVP (tricuspid valve prolapse), CHD (congenital heart disease), and aortic valve pathology. Conclusıons: Our study showed that the prevalence of cardiac pathologies in the pediatric PC patients was higher than that in the control group consisting of healthy children. Thus, it may be recommend the referral of pediatric PC patients to cardiology outpatient clinics for the early diagnosis of potential cardiac pathologies.

Longitudinal Cognitive and Motor Delay after Pediatric Heart Transplantation and Associated Survival

We investigated factors associated with the longitudinal presence of neurodevelopmental delays in pediatric heart transplant (HTx) recipients. The United Network for Organ Sharing Registry was queried for patients <18 years who received a first-time isolated HTx between March 2008 and December 2022. Two patient cohorts were developed, those with/without: 1) definitive motor delay (MD) and 2) definitive cognitive delay (CD). A total of 3847(n=3267[no MD], n=580[definitive MD]) and 3446(n=2689[no CD], n=757[definitive CD]) patients were included across MD and CD cohorts, respectively. Cohorts shared 3189 patients. Compared to intracohort non-delayed patients, definitive MD and CD cohorts each independently had higher rates of congenital heart disease, ventilator support at transplant, and stroke prior to discharge (p<0.001 for all). Patients with a definitive delay at follow-up had worse longitudinal survival, with hazard ratios of 2.82(95% CI: 2.32-3.44, p<0.001) and 1.67(95% CI: 1.32-2.05, p<0.001) for MD and CD cohorts, respectively. Both stroke prior to discharge and symptomatic cerebrovascular disease at listing were predictors of CD and MD at follow-up. Definitive MD and CD cohorts each independently had higher rates of stroke prior to discharge (MD cohort, 57/580=9.8% versus 48/3267=1.5%; CD cohort, 53/757=7.0% versus 42/2689=1.6%, p<0.001 for both), and symptomatic cerebrovascular disease at listing was a predictor of CD and MD at follow-up (CD cohort, OR=4.16[95% CI: 2.62-6.58]; MD cohort, OR=3.30[95% CI: 2.06-5.22]. Patients with MD and/or CD following HTx share several characteristics (including increased stroke prior to discharge) and have decreased longitudinal survival compared to their non-delayed counterparts.

A “twelve-section ultrasonic screening and diagnosis method” and management system for screening and treating neonatal congenital heart disease at the grassroots level in Tang County, Hebei Province, China

BackgroundTo explore a method for screening and diagnosing neonatal congenital heart disease (CHD) applicable to grassroots level, evaluate the prevalence of CHD, and establish a hierarchical management system for CHD screening and treatment at the grassroots level.MethodsA total of 24,253 newborns born in Tang County between January 2016 and December 2020 were consecutively enrolled and screened by trained primary physicians via the “twelve-section ultrasonic screening and diagnosis method” (referred to as the “twelve-section method”). Specialized staff from the CHD Screening and Diagnosis Center of Hebei Children’s Hospital regularly visited the local area for definite diagnosis of CHD in newborns who screened positive. Newborns with CHD were managed according to the hierarchical management system.ResultsThe centre confirmed that, except for 2 newborns with patent ductus arteriosus missed in the diagnosis of ventricular septal defect combined with severe pulmonary hypertension, newborns with other isolated or concomitant simple CHDs were identified at the grassroots level. The sensitivity, specificity and diagnostic coincidence rate of the twelve-section method for screening complex CHD were 92%, 99.6% and 84%, respectively. A total of 301 children with CHD were identified. The overall CHD prevalence was 12.4‰. According to the hierarchical management system, 113 patients with simple CHD recovered spontaneously during local follow-up, 48 patients continued local follow-up, 106 patients were referred to the centre for surgery (including 17 patients with severe CHD and 89 patients with progressive CHD), 1 patient died without surgery, and 8 patients were lost to follow-up. Eighteen patients with complex CHD were directly referred to the centre for surgery, 3 patients died without surgery, and 4 patients were lost to follow-up. Most patients who received early intervention achieved satisfactory results. The mortality rate of CHD was approximately 28.86 per 100,000 children.ConclusionsThe “twelve-section method” is suitable for screening neonatal CHD at the grassroots level. The establishment of a hierarchical management system for CHD screening and treatment is conducive to the scientific management of CHD, which has important clinical and social significance for early detection, early intervention, reduction in mortality and improvement of the prognosis of complex and severe CHDs.

Time trends and birth rates in women with congenital heart disease; a nationwide cohort study from Norway 1994–2014

BackgroundMore women with congenital heart disease (CHD) reach reproductive age, but little is known of their success in having children. We investigated time trends of CHD in women of reproductive age and maternal CHD in childbirth and compared birth rates in women with CHD to birth rates in women without heart disease. Methods and resultsIn a national cohort, we combined information from five registries in Norway 1994–2014. Among 1,644,650 women aged 15–45 years, 5672 had CHD. Among 1,183,851 childbirths, 3504 were registered with maternal CHD. The prevalences of mild and moderate/severe CHD in women increased by an average of 3–4% per year 1994–2014, as did the prevalences of mild and moderate/severe maternal CHD in childbirth. Compared to women without heart disease, the likelihood of having children was similar for women with mild CHD (rate ratio 1.03, 95% confidence interval 0.97–1.09) but lower for women with moderate/severe CHD (rate ratio 0.75, 95% confidence interval 0.68–0.84). The mean number of childbirths was similar in women with mild CHD and women without heart disease (1.81 vs 1.80, p = 0.722) but lower in women with moderate/severe CHD (1.42, p < 0.001). ConclusionIn a national cohort over two decades of women of reproductive age, the prevalence of maternal CHD in childbirth reflected the increasing prevalence of CHD in the population. Birth rates were similar for women with mild CHD and women without heart disease, whereas women with moderate/severe CHD were less likely to have children and had a lower mean number of childbirths.

Maternal exposure to folate antagonists and susceptibility to congenital heart disease in offspring: A systematic review and meta-analysis.

The objective of this meta-analysis was to determine whether maternal exposure to folate antagonists is associated with increased rates of congenital heart disease in offspring. A comprehensive search for articles in the MEDLINE (PubMed) and EMBASE databases published up to 21 August 2023 was performed. The search strategy was not limited by study design but only for articles in the English language. Analysis of 6 cohort studies and 5 cross-sectional studies, published between 1976 and 2020, showed significant increase in rate of congenital heart disease (odds ratio 1.55, 95% confidence interval, 1.28-1.87) when exposed to folate antagonists compared with the control. Further subgroup analysis showed the increased rate for exposure to both dihydrofolate reductase inhibitors and antiepileptic drugs separately. No differences were observed when analyses were stratified by timing of study. Administration of folate antagonists within the 12-week period preceding conception and throughout the second and third months of gestation exhibited a statistically significant elevation in the susceptibility to congenital heart diseases. Notably, the protective effect of folic acid supplementation was reported in cases of congenital heart disease linked to dihydrofolate reductase inhibitors but not that associated with antiepileptic drugs.

Echocardiographic Findings of Children with Down Syndrome

Objective: Down syndrome is the most common well-known chromosomal disorder. The incidence of congenital heart disease (CHD) in these patients is high and it is the most important cause of mortality. In this study, we reviewed the comorbid CHDs and their characteristics in patients with the diagnosis of Down syndrome. We compared our results with the results of studies conducted in different regions of our country in different years. Materials and Methods: Between January 2020 and December 2022, data from a total of 385 patients (175 females, 210 males) with Down syndrome were evaluated. The age of the mothers at the time of delivery and the availability of prenatal diagnosis information in accessible patients were determined. Results: Of 385 patients with Down syndrome, 38.2% (n=147) had CHD. Among patients with CHD, 57 patients had atrioventricular septal defect (AVSD) (38.7%), 35 patients had perimembranous ventricular septal defect (23.8%), 24 patients had secundum atrial septal defect (16.3%), 8 patients had patent ductus arteriosus (5.4%), and 10 patients without AVSD had CHD with multiple left-to-right shunts (6.8%). The most common cyanotic CHD was tetralogy of Fallot (n=7, 4.7%). Complete AVSD was present in 63.1% of AVSD patients. CHD was present in 36.2% of boys and 40.6% of girls. Among all female patients, 17.1% had AVSD, while this rate was 12.8% among all male patients (p&lt;0.05). The mean maternal age at delivery was 32.59±6.9 (17-48) years. It was found that children with Down syndrome whose mothers had a maternal age of 33.5 years and above had a lower rate of CHD. Of the 170 mothers for whom prenatal diagnosis information was available, 58.2% (n=99) had a prenatal diagnosis. Conclusion: Prenatal diagnosis opportunities have increased and become widespread over the years. However, no significant change was observed in the rates of CHD, which is most frequently responsible for mortality in children with Down syndrome. It is appropriate for every expectant mother with a prenatal diagnosis to be referred for fetal echocardiography or postnatal transthoracic echocardiography.

Semi-Automatic Measurement of Fetal Cardiac Axis in Fetuses with Congenital Heart Disease (CHD) with Fetal Intelligent Navigation Echocardiography (FINE).

Congenital heart disease (CHD) is one of the most common organ-specific birth defects and a major cause of infant morbidity and mortality. Despite ultrasound screening guidelines, the detection rate of CHD is limited. Fetal intelligent navigation echocardiography (FINE) has been introduced to extract reference planes and cardiac axis from cardiac spatiotemporal image correlation (STIC) volume datasets. This study analyses the cardiac axis in fetuses affected by CHD/thoracic masses (n = 545) compared to healthy fetuses (n = 1543) generated by FINE. After marking seven anatomical structures, the FINE software generated semi-automatically nine echocardiography standard planes and calculated the cardiac axis. Our study reveals that depending on the type of CHD, the cardiac axis varies. In approximately 86% (471 of 542 volumes) of our pathological cases, an abnormal cardiac axis (normal median = 40-45°) was detectable. Significant differences between the fetal axis of the normal heart versus CHD were detected in HLHS, pulmonary atresia, TOF (p-value < 0.0001), RAA, situs ambiguus (p-value = 0.0001-0.001) and absent pulmonary valve syndrome, DORV, thoracic masses (p-value = 0.001-0.01). This analysis confirms that in fetuses with CHD, the cardiac axis can significantly deviate from the normal range. FINE appears to be a valuable tool to identify cardiac defects.

An 18-year evolution of congenital heart disease in China: An echocardiographic database-based study

ObjectiveData on the evolution of congenital heart disease (CHD) in China remain scarce. Based on a Chinese echocardiography database, we analyzed the observed rate (OR) and spectrum changes of CHD over the past 18 years with a focus on the congenital aortic valve malformation (CAVM) and Adult CHD (ACHD). Methods and resultsThe transthoracic echocardiographic data of 682,565 records from 2003 to 2020 were retrospectively reviewed at Fujian Medical University Union Hospital, China. A total of 37,200 CHD cases were recruited in this study. Over the three periods (from 2003 to 2008, 2009–2014, to 2015–2020), the OR of Total CHD decreased (106.72, 90.64, and 67.43 per 1000 cases, respectively); the proportion of Simple CHD to Total CHD increased (80.96%, 83.41%, and 87.97%, respectively), with a decrease in the proportion of Complex CHD (18.11%, 15.51%, and 10.42%, respectively) (p < 0.05 for all). The proportion of ACHD increased in most types of CHD [Total CHD: 25.79%, 27.84%, and 31.43%; CAVM: 69.02%, 73.42%, and 78.16%; CAVM with aortic stenosis (AS): 67.42%, 70.73%, and 79.25%; respectively, p < 0.05 for all], with a much higher proportion in both CAVM and CAVM with AS than in the other CHD types. The proportion of CHD patients receiving intervention increased over the designated periods. ConclusionsThis study depicts the longitudinal changes of CHD in the Chinese population with a single-center echocardiographic data, revealing an increased proportion of Simple CHD, ACHD (including CAVM and CAVM with AS), and a decreased OR of Total CHD and proportion of Complex CHD.

Neighborhood location and nutritional resources as a risk factor for congenital heart disease in the fetus.

Congenital heart disease (CHD) is the most common birth defect, influenced by maternal health, environmental conditions, and genetics. Maternal health and nutrition, particularly maternal diabetes, is a modifiable risk factor for development of CHD in the fetus. However, the importance of food access during pregnancy on the development of CHD remains unknown. The objective of this study was to investigate the association between maternal neighborhood characteristics, particularly food access, and occurrence of prenatally diagnosed CHD. A retrospective case series studied maternal-fetal dyads with prenatally diagnosed CHD between 2019 and 2021 in Washington, DC. Moran's I of maternal addresses evaluated geographic clustering of disease. Negative binomial regression assessed association between census tract demographics and population-adjusted CHD rate. A total of 307 dyads were analyzed. Global Moran's I showed significant CHD clustering (p-value = .004). However, degree of clustering was not clinically meaningful. After adjusting for neighborhood socioeconomic status, residing in food deserts was not a predictor for CHD. However, neighborhoods with a higher percentage of households receiving Supplemental Nutrition Assistance Program (SNAP) benefits were associated with higher rates of conotruncal heart defects (Incident Rate Ratio [IRR] = 1.04, CI = 1.01-1.08) and aggregate CHD (IRR = 1.03, CI = 1.01-1.05). Neighborhood location and food access were not associated with CHD. However, increased enrollment in SNAP was associated with higher rates of CHD. The association between CHD and SNAP benefits warrants further exploration. Understanding food access and maternal nutrition may illuminate disparities in the burden of CHD.

Fetal electrocardiography and artificial intelligence for prenatal detection of congenital heart disease.

This study aims to investigate non-invasive electrocardiography as a method for the detection of congenital heart disease (CHD) with the help of artificial intelligence. An artificial neural network was trained for the identification of CHD using non-invasively obtained fetal electrocardiograms. With the help of a Bayesian updating rule, multiple electrocardiographs were used to increase the algorithm's performance. Using 122 measurements containing 65 healthy and 57 CHD cases, the accuracy, sensitivity, and specificity were found to be 71%, 63%, and 77%, respectively. The sensitivity was however 75% and 69% for CHD cases requiring an intervention in the neonatal period and first year of life, respectively. Furthermore, a positive effect of measurement length on the detection performance was observed, reaching optimal performance when using 14 electrocardiography segments (37.5 min) or more. A small negative trend between gestational age and accuracy was found. The proposed method combining recent advances in obtaining non-invasive fetal electrocardiography with artificial intelligence for the automatic detection of CHD achieved a detection rate of 63% for all CHD and 75% for critical CHD. This feasibility study shows that detection rates of CHD might improve by using electrocardiography-based screening complementary to the standard ultrasound-based screening. More research is required to improve performance and determine the benefits to clinical practice.

Multidimensional definition of the interferonopathy of Down syndrome and its response to JAK inhibition.

Individuals with Down syndrome (DS) display chronic hyperactivation of interferon signaling. However, the clinical impacts of interferon hyperactivity in DS are ill-defined. Here, we describe a multiomics investigation of interferon signaling in hundreds of individuals with DS. Using interferon scores derived from the whole blood transcriptome, we defined the proteomic, immune, metabolic, and clinical features associated with interferon hyperactivity in DS. Interferon hyperactivity associates with a distinct proinflammatory phenotype and dysregulation of major growth signaling and morphogenic pathways. Individuals with the highest interferon activity display the strongest remodeling of the peripheral immune system, including increased cytotoxic T cells, B cell depletion, and monocyte activation. Interferon hyperactivity accompanies key metabolic changes, most prominently dysregulated tryptophan catabolism. High interferon signaling stratifies a subpopulation with elevated rates of congenital heart disease and autoimmunity. Last, a longitudinal case study demonstrated that JAK inhibition normalizes interferon signatures with therapeutic benefit in DS. Together, these results justify the testing of immune-modulatory therapies in DS.

The Burden of Congenital Heart Disease and Urogenital Lesions in a National Cohort of Hirschsprung Patients

BackgroundHirschsprung's disease (HSCR) is often associated with other congenital and chromosomal defects. This study aimed to describe the prevalence of congenital heart disease (CHD) and congenital urogenital lesions in children with HSCR, with and without Trisomy 21 and other associated anomalies, to guide appropriate screening. MethodsThe Pediatric Health Information System was queried for patients with HSCR who underwent surgical treatment between 2016 and 2021. The prevalence of CHD, congenital urogenital lesions, Trisomy 21 and other congenital syndromes were calculated. Multivariable regression modeling was used to identify predictors of postoperative intensive care unit (ICU) admission and postoperative length of stay (LOS). ResultsOf 2021 HSCR patients at 47 children's hospitals, 264 (13.1%) had CHD, 244 (12.1%) had Trisomy 21, and 103 (5.1%) had a congenital urogenital lesion. The prevalence of CHD (49.6 vs. 8.1%, P < 0.001) and of undergoing a cardiac intervention with associated CHD (40.5 vs. 23.1%, P = 0.002) were higher in patients with Trisomy 21 compared to those without. CHD was associated with an increased likelihood of postoperative ICU admission (OR: 1.6, 95% CI: 1.1, 2.2) and greater postoperative LOS (IRR: 2.6, 95% CI: 2.6, 2.7), irrespective of Trisomy 21 diagnosis. ConclusionsThe prevalence of CHD among HSCR patients (13.1%) was higher than previously reported, and CHD patients required more resource-intensive care after pull-through. While Trisomy 21 was associated with higher rates of CHD and cardiac intervention, 8.1% of HSCR patients without Trisomy 21 had CHD. Screening echocardiogram should be considered in all children diagnosed with HSCR, as CHD may influence perioperative risk stratification. However, screening renal ultrasound may have limited utility given the low prevalence of urogenital lesions in this population. Level of EvidenceLevel III.

ISUOG Practice Guidelines (updated): fetal cardiac screening.

ISUOG Practice Guidelines (updated): fetal cardiac screening.

Infective endocarditis in paediatric patients from Andalusia (Spain), 2008–2020

IntroductionPaediatric infective endocarditis (IE) is a serious condition associated with significant mortality. Information in Spain is limited and comes from case series from single centres. The aim was to describe the epidemiology, clinical features, microbiology and outcome of paediatric IE in Andalusia. Patients and MethodsMulti-centre descriptive observational retrospective study of patients <18 years old with a diagnosis of IE who were admitted to six Andalusian hospitals during 2008−2020. Results44 episodes of IE (41 patients) with a median age of 103 months (IQR 37−150 months) were identified. Congenital heart disease (CHD) was the main predisposing factor, identified in 34 cases (77%). A total of 21 (48%) episodes of IE occurred in patients with prosthetic material. These had higher rate of CHD (p = 0.002) and increased end organ dysfunction (p = 0.04) compared to those with native valve.Fever was an almost universal symptom, associated in 23% of the episodes with heart failure. Staphylococcus aureus (25%) followed by coagulase-negative staphylococci (18%) and Streptococcus viridans (14%) were the most frequently isolated microorganisms, and three (7%) patients with central venous catheters had a fungal infection.Thromboembolic events were observed in 30% of the episodes, surgical intervention was required in 48% of cases. Mortality rate was 9%. Prosthetic material and CRP > 140 mg/L were independent predictors of complicated IE. ConclusionsOur findings emphasize the high morbidity of paediatric IE. The information provided could be useful for the identification of epidemiological and clinical profiles of children with IE and complicated forms.

Infants Who Require Total Parenteral Nutrition and Paralytics at Time of Heart Transplant Experience Inferior Post-Transplant Mortality.

Background: Infants experience the worst one-year post-heart transplant (HTx) survival of any other pediatric group. Although mechanical ventilatory (MV) requirement at the time of transplant is an established predictor of post-transplant mortality, the impacts of commonly co-utilized support modalities such as total parenteral nutrition (TPN)-dependence and paralytics are understudied. Methods: All infant HTx recipients from 2003 to 2020 in both the United Network for Organ Sharing and Pediatric Health Information System databases were identified (n = 1344) and categorized depending upon support requirement at the time of transplant-none (59%), MV-only (10%), MV + Paralytics (2%), TPN-dependence-only (15%), MV + TPN (10%), and MV + Paralytics + TPN (4%). The primary study aim was to characterize the impact of TPN-dependence and paralytics on one-year post-transplant survival (PTS). Results: Compared to no-support, supported infants were generally at higher risk and more ill at transplant, with greater rates of congenital heart disease, renal and hepatic dysfunctions, and inotrope requirements. Post-transplant hospital outcomes were inferior among supported patients; all support groups experienced longer post-transplant MV, intensive care unit, and hospital lengths of stay (all P < .05 vs no-support). Upon multivariable analysis, each support modality independently predicted 1-year mortality (MV vs no-MV: 1.54 [1.10-2.14]; MV + Paralytics vs neither: 2.02 [1.25-3.27]; TPN vs no-TPN: 1.53 [1.10-2.13]; P < .01 for all), whereas no-support was protective (HR 0.66 [95% CI 0.48-0.91]). Conclusions: Infants who require paralytics and/or who are TPN-dependent at the time of HTx experience worse one-year PTS. Such knowledge can assist in risk-stratification, and the identification of patients who would benefit from pretransplant optimization.