Presence Of Congenital Heart Disease Research Articles

Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy)

Larsen of La Réunion Island syndrome (LRS) is an autosomal recessive condition associated with multiple large joint dislocations, clubfeet, severe dwarfism, and distinctive facial features. LRS is caused by a recurrent homozygous variant in B4GALT7 gene with a founder effect in La Réunion population. Proteoglycans (PG) that are a major component of the extracellular matrix, are composed of a core protein connected to a glycosaminoglycans side chain via a tetrasaccharide linker region. B4GALT7 encodes galactosyltransferase I, one of the enzymes involved in the biosynthesis of the linker region. Conditions caused by pathogenic biallelic variants in genes implicated in the synthesis of the tetrasaccharide linker of PG are known as linkeropathies.Prenatal features are rarely described in this group of chondrodysplasias. We present a series of 12 unpublished patients having LRS and describe the perinatal phenotype. All the patients had a prenatal growth restriction with brevity of limbs. The other features revealed by ultrasounds were increased nuchal translucency at 10–12 weeks of gestation (50 %), feet abnormalities (clubfeet or metatarsus varus) (25 %), dislocation affecting at least one large joint (elbow, knee, wrist) (25 %). Bilateral bowing of femora was noted for two fetuses. Fibular hypertrophy was noted for one fetus. Prenatal helical computed tomography (CT) performed in three pregnancies showed additional data such as bowing of the forearm bones, proximal radio-ulnar synostosis, or dislocation of large joints. Prenatal sonographic and helical CT findings led to the prenatal diagnosis of LRS in four patients. We confirm that the neonatal clinical picture of LRS has an important overlap with that reported in patients with B4GALT7 deficiency outside La Réunion Island and other linkeropathies. The core of the phenotypic spectrum combines low birth height, micromelia, hypermobility, dislocation of at least one large joint, facial features with prominent eyes, microstomia, depressed nasal bridge, and midface hypoplasia. Other clinical features include clubfeet (33%), bifid thumb in one patient, and cardiac abnormalities in two patients. Radiological findings include radio-ulnar synostosis (75%), metaphyseal flaring, precocious carpal ossification, and a Swedish key appearance of the proximal femora. Finally, we also report radiological features rarely described in B4GALT7-linkeropathies, including bowing of the femora and fibular hypertrophy. Our results confirm the phenotypic continuum of LRS within linkeropathies with some additional findings, including a high frequency of clubfeet usually described in B3GALT6-linkeropathies, the presence of congenital heart diseases usually described in B3GAT3-linkeropathies, and a high frequency of metaphyseal flaring usually reported in B3GALT6 or XITLT1-linkeropathies.This is the first study that describes the perinatal phenotype in a cohort of patients with LRS. This study can help improve the prenatal diagnosis of the linkeropathies and add this group of conditions to the differential diagnosis of chondrodysplasias with multiple dislocations.In view of the founder effect for LRS in La Réunion Island, this disease should be suspected in fetuses with growth restriction and micromelia. Thus in case of LOH which include B4GALT7 identified in SNP-array, we recommend performing a targeted Sanger sequencing for the recurrent mutation c.808C > T; p. (Arg270Cys).

Multicenter Study of a Risk Prediction Model for Critically Ill Children at High-Risk for Hospital-Acquired Venous Thromboembolism: Findings from the Children's Hospital-Acquired Thrombosis (CHAT) Consortium

Introduction: Critically ill children are at high-risk of developing a hospital-acquired venous thromboembolism (HA-VTE) as well as being at an increased risk for bleeding. To better understand which subset of children may benefit from thromboprophylaxis measures, (without contraindications for potential associated hemorrhagic complications), the Children's Hospital Acquired Thrombosis (CHAT) Consortium previously derived a HA-VTE risk assessment model (RAM) for critically ill children from 8 centers. This RAM included five variables: (1) immobility defined using a Braden score ≤2, (2) length of hospitalization prior to PICU admission, (3) central venous catheterization, (4) presence of congenital heart disease (CHD) and (5) history of autoimmune/inflammatory disorder or infection. For this study we aimed to externally evaluate our previous HA-VTE RAM in critically ill children in an independent cohort via the CHAT Consortium. Methods: Critically ill children aged 0-21 years admitted or transferred into a pediatric intensive care unit (PICU) at 32 U.S. centers were randomly selected to be enrolled in the study. Participants with a HA-VTE at admission or cardiac surgery within 2 weeks of PICU admission/transfer were excluded. Participants were prospectively followed via chart review for the development of a HA-VTE throughout their hospitalization and up to 30 days post discharge. Twenty-one variables that had been evaluated in univariate analyses from the previously-reported ICU-RAM derivation study were again analyzed in the present prospective cohort via univariate logistic regression. Variables with P-value of <0.1 were included in a multivariable logistic regression model, with P-values of <0.05 considered significant. Missing values were not imputed and complete case analysis was utilized. Results: From January 2020 to July 2022, 4,504 participants were enrolled and 93 developed a HA-VTE (2.1%). Complete data were available for 65 HA-VTE cases and 3056 controls without HA-VTE. Median age for HA-VTE participants was 5.2 years (interquartile range [IQR] 1.0-15.2) compared to 6.6 years (IQR 1.7-13.8) for those without HA-VTE; 55% and 53% of each group, respectively, were males. Among seven variables that met criteria for evaluation in the updated multivariable model, central venous catheter (odds ratio [OR] 4.2, 95% confidence interval [CI] 2.4-7.4), cancer (OR 3.1, 95% CI 1.4-6.7), immobility (OR 2.0, 95% CI 1.2-3.4, prior hospitalization (OR 2.0, 95% CI 1.1-3.5) and mechanical ventilation (OR 1.9, 95% CI 1.1-3.4) were each independently associated with HA-VTE risk (Table 1). The validation RAM had an area under the receiver operating characteristic curve of 0.81 (95% CI, 0.75-0.86) (Figure 1), compared to 0.78 (95% CI=0.73-0.84) for the previous model. Conclusions: The present work represents the largest external validation study of a HA-VTE RAM to date in critically ill children. We identified five independent risk factors for HA-VTE for children admitted to a PICU. Two of these factors were identified in the derivation study RAM, while three (cancer, prior hospitalization, and mechanical ventilation) were newly identified via this validation study.

Pathomorphological features of complications inpatients with bicuspid aortic valve

Purpose: to evaluate the features of the course of complications in patients with BAV based on the results of a pathomorphological study.Material and methods: a retrospective analysis of a register of 328 patients with AS and dilation of the ascending aorta (DAA), based on histological studies performed in 2010–2022 was carried out. 209 patients were diagnosed with BAV as a result of histological examination, and 119 patients were diagnosed with tricuspid aortic valve (TAV). The type of BAV was analyzed in 139 operated patients based on the results of the analysis of surgical protocols.Results: according to the obtained results, the first type with fusion of the right and left coronary cusps prevailed among patients with BAV (78%), the smallest number of patients with BAV was with fusion of the right coronary and non-coronary cusps of the aortic valve (4%), while fusion of the left coronary with the non-coronary cusps of the aortic valve (AV) and patients with "true" BAV occurred in each case in 9% of patients. The formation of AS (75.6%), DAA (68.4%), and the combination of AS+DAA (81%) was more observed in the group of patients with the first type of BAV. According to the results of histology of the AV, there were no significant differences depending on the morphology of the valve. In particular, according to the results of AV histology, the frequency of calcification did not differ in groups of patients with BAV and TAV. Fibrosis with erasing of the layered histoarchitectonics of the AV of varying severity was detected in every second patient, regardless of the presence of congenital heart disease (CHD). According to the results of aortic histology, hemodynamic aneurysm in patients with BAV was much more common than in patients with TAV (p=0.0027). In addition, it was verified that in 39 patients out of 40 without pathomorphological changes in the aortic wall, aortic stenosis appeared in the diagnosis, of which 80% of patients had CHD: BAV. It was verified that 39 out of 40 patients without pathomorphological changes in the aortic wall had aortic stenosis in the diagnosis. Moreover, in 80% of patients, the main cause of aortic dilatation was identified as BAV.Conclusions: the results of this study demonstrated that in the vast majority of cases, aortic dilatation and aortic stenosis are formed during fusion of the right and left coronary cusps. The absence of morphological changes in the aortic wall in almost every third patient with DAA and BAV, confirms the genetic contribution to the formation of aortic dilatation in this category of patients and requires further study.

Investigation of cardiopulmonary parameters, motor development and muscle strength in children with Down syndrome with and without congenital heart disease.

Children with Down syndrome (DS) frequently have concomitant clinical problems. There are no studies in the literature evaluating gross motor development and handgrip strength in the presence of congenital heart disease (CHD), which is one of the most common comorbidities in population with DS. The aim of this study was to compare cardiopulmonary parameters, gross motor development and handgrip strength in children with DS with and without CHD. A total of 28 children with DS (14 with CHD and 14 without CHD) were evaluated. Demographic data and cardiopulmonary parameters were recorded. Gross motor development and handgrip strength were assessed. Children with DS and CHD had lower GMFM-88 scores and right handgrip strength and higher Wang respiratory score than children with DS and no CHD (P<0.05). GMFM-88 scores were moderately correlated with resting oxygen saturation (r=0.46, P=0.01) and right handgrip strength (r=0.67, P<0.001). Peripheral muscle strength and oxygen saturation may be factors affecting gross motor development in children with DS. From this point of view, evaluating cardiopulmonary parameters, motor development and handgrip strength in children with DS and CHD is important to identify risks, provide early intervention and support development.

Survival of children with trisomy 18 associated with the presence of congenital heart disease and intervention in the Republic of Korea

BackgroundTrisomy 18 syndrome (T18) is the second most common autosomal trisomy and has a high risk of fetal loss and stillbirth. Aggressive surgical treatments for the respiratory, cardiac, or digestive systems of patients with T18 were previously futile, while the results of recent studies are controversial. Over the past decade, there have been approximately 300,000 to 400,000 births annually in the Republic of Korea; however, there have been no nationwide studies on T18. This nationwide retrospective cohort study aimed to determine the prevalence of T18 in Korea and its prognosis according to the presence of congenital heart disease and relevant interventions.MethodsThis study utilized NHIS-registered data between 2008 and 2017. A child was defined as having T18 if the ICD-10 revision code Q91.0–3 was reported. Subgroup analysis was performed for children with congenital heart diseases, and survival rates were compared based on the history of cardiac surgical or catheter interventions. The primary outcomes in this study were the survival rate during the first hospitalization period and the 1-year survival rate.ResultsOf the children born between 2008 and 2017, 193 were diagnosed with T18. Of these, 86 died, with a median survival of 127 days. The 1-year survival rate for children with T18 was 63.2%. The survival rate in the first admission of children with T18 who did and did not have congenital heart disease was 58.3% and 94.1%, respectively. Children with heart disease who underwent surgical or catheter intervention had a longer survival time than those who did not.ConclusionsWe suggest these data could be used in ante- and postnatal counseling. Ethical concerns about the prolonged survival of children with T18 remain; however, the potential benefits of interventions for congenital heart disease in this population need further study.

Non-Valvular Atrial Fibrillation in Young Adults in Eastern India: A Clinico-Aetiological Retrospective Analysis in a Tertiary Care Hospital.

The development of atrial fibrillation adds a lot to the morbidity and mortality of individual patients. The spectrum of non-valvular atrial fibrillation among young adults is less known. The present observational study aims to analyze the clinical-aetiological spectrum of non-valvular atrial fibrillation among young adults between 18 and 40 years of age. A retrospective observational study was carried out to analyze the clinical-aetiological spectrum of non-valvular atrial fibrillation among young adults less than 40 years of age attending the cardiac outpatient department in a tertiary care hospital in Eastern India over a period of two years. Patients with any form of organic valvular heart disease and patients more than 40 years of age were excluded from the study. One hundred and seventeen patients under 40 years of age were analysed with respect to demographic, aetiological, and clinical profiles. Most common aetiologies behind non-valvular atrial fibrillation in young adults (<40 years) were hypertension (40%) and the presence of left ventricular systolic dysfunction (31%). Thyrotoxicosis, obesity, obstructive sleep apnoea, the presence of congenital heart disease, coronary artery disease, myopericarditis, chronic kidney disease, dyselectronemia, diabetes mellitus, and the presence of chronic obstructive pulmonary disease contributed towards the development of non-valvular atrial fibrillation in the young population in less proportion of cases. Most of the cases were symptomatic with palpitation, shortness of breath, or diaphoresis. Less number of cases (17%) had left atrial thrombus which may be due to early clinical attention with the proper therapeutic anticoagulation regimen. Hypertension and the presence of left ventricular systolic dysfunction contribute to the majority towards the development of non-valvular atrial fibrillation among young adults. Accurate measurement and monitoring of blood pressure among young adults and careful assessment of left ventricular systolic dysfunction with subsequent appropriate management of hypertension and left ventricular systolic dysfunction in young can decrease the burden of non-valvular atrial fibrillation among the young population.

Sex-specific percentiles for bodyweight and height in children born with esophageal atresia: a registry-based analysis 2001–2021

BackgroundEsophageal atresia (EA) is a rare malformation with a wide range of co-morbidity and associated malformations impairing weight gain and growth. The aim of this study was to calculate specific percentiles for body weight and height for children born with esophageal atresia according to sex from birth to the age of 6 years, accounting for prematurity and presence of congenital heart disease (CHD).MethodsData was extracted from an anonymized voluntary national registry for patients born with esophageal atresia between 2001 and 2021, from birth until the age of six years. Missing values were imputed using a multiple imputation approach. In premature infants, chronological age was corrected for gestational week until the age of one year. The impact of sex and additional congenital heart disease on weight gain and growth was analysed using quartile regression models.ResultsIn total, 1812 examinations of 485 patients were considered and 1232 examinations of 301 patients were finally included. Most data was available for children at birth and during the first year of life. Body weight was imputed for 3.3% and height for 12.5% of examinations. The mean body weight-for-age and length-for-age at birth according to gestational age was lower in EA patients and median body weight developed along the tenth percentile compared to the general population. Median height-for-age was at the 50th percentile during the first months of life, before crossing to lower percentiles before the age of one year. CHD had an additional negative impact on growth and weight gain, especially during the first year of life.ConclusionsChildren with EA had a reduced bodyweight and -height compared to the general population. Therefore, specific percentile curves are helpful to evaluate growth and development. Especially during the first year of life, particular attention is necessary and complications leading to a reduced calorie intake should be treated without delay to promote timely development and growth. Cardiac co-morbidities may further compromise weight gain in these patients, implying that such patients should be under even closer surveillance.

Electrocardiographic and electrophysiological characteristics of fasciculoventricular fibers in children.

Fasciculoventricular fiber (FVF) that does not cause tachyarrhythmia is a rare form of ventricular preexcitation, which is important to distinguish from Kent fibers. Although, adenosine and some electrocardiographic features are important in the differentiation of Wolff Parkinson White (WPW) than FVF, a clear distinction may not always be possible without an electrophysiological study (EPS). In this study, we aimed to present the clinical and electrophysiological features of our pediatric patients with fasciculoventricular fiber. Between October 2013 and September 2021, 565 patients who underwent electrophysiological studies due to ventricular preexcitation in our clinic were screened in the study, and 27 (4.7%) patients with fasciculoventricular fiber were included. The data of the patients were obtained from the file records using the electronic internet database system Filemaker® . Electrophysiological study age, weight, gender, symptom, and presence of congenital heart disease of the patients were obtained from the file records. Accessory pathway localization was evaluated according to the modified Arruda algorithm in pre-procedural electrocardiography. In addition, delta wave amplitudes were measured in the first 40ms from the surface ECG. PR interval, QRS interval, and delta wave amplitude were recorded before and after ablation in patients with additional accessory pathways. Post-procedure values were included in the FVF group. The mean age of the patients was 11.47±4.25 years. All 70.4% of the reasons for admission were symptoms such as palpitations and syncope. Two patients had hypertrophic cardiomyopathy and 1 patient had ccTGA. In the electrophysiological study, additional manifest WPW was found in 9 (33%) patients (3 patients with high risk, 6 patients with orthodromic supraventricular tachycardia), focal atrial tachycardia in a patient, and atrioventricular nodal reentry tachycardia in a patient. While the delta wave amplitude was found to be 2.56±1.38(1-5.5) mm in the first 40ms in surface electrocardiography in 9 patients with additional accessory pathway, it was found to be 1.64±0.67(0.5-3) mm in the FVF group. There was no statistically significant difference between the 2 groups (p=.398). Delta wave amplitude>3.5mm was not detected in any patient with isolated FVF. Interestingly, delta wave amplitude was<3.5mm in 7 (78%) of 9 patients who were identified and ablated with an additional accessory pathway. Total 19 of the patients (59.3%) were adenosine-responsive (18 isolated FVF, 1 manifest AP+FVF adenosine-responsive. 8 patients with other manifest AP + FVF had no pre-procedural adenosine-asystole response, and all of them QRS were expanded). Although, the fasciculoventricular fibers themselves are not the cause of tachyarrhythmia, the accessory pathway and other tachyarrhythmia substrate frequency accompanying these cases are quite high (approximately 40%) in EPS. The delta wave characteristics of ablated patients are very similar to FVF patients. While all patients with isolated FVF were adenosine responsive, most of those with additional manifest WPW were unresponsive. Therefore, performing EPS in patients with suspected FVF based on surface ECG features seems to be important for the detection of additional tachyarrhythmias and risky accessory pathways.

Serial Assessment of Cardiac Function and Pulmonary Hemodynamics in Infants With Down Syndrome

There is a dearth of longitudinal data describing the evolution of cardiopulmonary hemodynamics in infants with Down syndrome (DS) beyond infancy. We hypothesized that babies with DS, independent of the presence of congenital heart disease (CHD), demonstrate biventricular systolic and diastolic impairment and sustained elevation of pulmonary pressures compared with controls over the first 2years of age. This was a prospective observational cohort study of 70 infants with DS (48 with CHD and 22 without CHD) and 60 controls carried out in 3 tertiary neonatal intensive care units in Dublin, Ireland. Infants with DS with and without CHD and non-DS controls underwent serial echocardiograms at birth, 6months, 1year, and 2years of age to assess biventricular systolic and diastolic function using deformation analysis. Pulmonary vascular resistance was assessed using pulmonary artery acceleration time and left ventricular (LV) eccentricity index. Infants with DS exhibited smaller LV (birth: 27±4 vs 31±2mm, P&lt;.01; 2years: 43±5 vs 48±4mm, P&lt;.01) and right ventricular (birth: 28±3 vs 31±2mm, P&lt;.01; 2years: 40±4 vs 44±3mm, P&lt;.01) lengths and lower LV (birth: -19%±3% vs -22%±2%, P&lt;.01; 2years: -24%±2% vs -26%±2%, P&lt;.01) and right ventricular (birth: -19%±4% vs -22%±3%, P&lt;.01; 2years: -29%±6% vs -33%±4%, P&lt;.01) systolic strain over the 2-year period. Pulmonary artery acceleration time was lower in the DS group throughout the study period (birth: 44±10 vs 62±14ms, P&lt;.01; 2years 71±12 vs 83±11ms, P&lt;.01). No differences were observed between DS infants with and without CHD (all P&gt;.05). Infants with DS exhibit impaired maturational changes in myocardial function and pulmonary vascular resistance. Such novel findings provide valuable insights into the pathophysiology affecting cardiorespiratory morbidity in this population.

Predicting the severity of viral bronchiolitis in children

Acute viral bronchiolitis is one of the common causes of hospitalization and mortality, especially among children in the first year of life who have risk factors (prematurity, congenital heart defects, bronchopulmonary dysplasia, immunosuppression). As factors associated with the severe course of bronchiolitis, along with the traditional ones, single nucleotide polymorphisms of the genes of the immune response molecules can be considered.The aim. Based on the analysis of clinical, laboratory and molecular genetic parameters, to identify prognostic criteria for the severe course of acute viral bronchiolitis in children.Materials and methods. The study included 106 children with acute viral bronchiolitis (severe course – 34, mild course – 72), the etiology of which in 67.9 % was respiratory syncytial virus. Forty-seven anamnestic, clinical, traditional laboratory and molecular genetic parameters were assessed as prognostic criteria. Determination of SNP genes of cytokines IL-4 (C-589T), IL-10 (G-1082A), IL-10 (C-592A), IL-10 (C-819T), TNF-α (G-308A), IL-17A (G197A), IL-17F (His161Arg), TLR2-753ArgGln, TLR6-Ser249Pro in venous blood was carried out by the polymerase chain reaction method.Results. An additional criterion for the risk of developing a severe course of bronchiolitis can be the mutant genotype (AA) SNP of the IL-10 gene (C-592A), which was detected exclusively in the group of patients with severe bronchiolitis, increasing the risk of developing a severe disease by 16.11 times (OR = 16.11; 95 % CI: 0.81–121.22, p = 0.02) in conjunction with already established modifying factors: the presence of congenital heart disease, bronchopulmonary dysplasia, prematurity, birth weight &lt; 1500 g. Based on a comprehensive assessment of the established risk factors, a method has been developed that allows calculate the likelihood of developing a severe course of acute viral bronchiolitis. Conclusion. The use of the developed prediction method will not only increase the likelihood of developing severe acute viral bronchiolitis in children, but also determine the priority group among children with predictors of severe viral bronchiolitis for priority immunoprophylaxis against RS-virus infection.

Application of Machine Learning Methods to Analyze Occurrence and Clinical Features of Ascending Aortic Dilatation in Patients with and without Bicuspid Aortic Valve.

Aortic aneurysm (AA) rapture is one of the leading causes of death worldwide. Unfortunately, the diagnosis of AA is often verified after the onset of complications, in most cases after aortic rupture. The aim of this study was to evaluate the frequency of ascending aortic aneurysm (AscAA) and aortic dilatation (AD) in patients with cardiovascular diseases undergoing echocardiography, and to identify the main risk factors depending on the morphology of the aortic valve. We processed 84,851 echocardiographic (ECHO) records of 13,050 patients with aortic dilatation (AD) in the Almazov National Medical Research Centre from 2010 to 2018, using machine learning methodologies. Despite a high prevalence of AD, the main reason for the performed ECHO was coronary artery disease (CAD) and hypertension (HP) in 33.5% and 14.2% of the patient groups, respectively. The prevalence of ascending AD (>40 mm) was 15.4% (13,050 patients; 78.3% (10,212 patients) in men and 21.7% (2838 patients) in women). Only 1.6% (n = 212) of the 13,050 patients with AD knew about AD before undergoing ECHO in our center. Among all the patients who underwent ECHO, we identified 1544 (1.8%) with bicuspid aortic valve (BAV) and 635 with BAV had AD (only 4.8% of all AD patients). According to the results of the random forest feature importance analysis, we identified the eight main factors of AD: age, male sex, vmax aortic valve (AV), aortic stenosis (AS), blood pressure, aortic regurgitation (AR), diabetes mellitus, and heart failure (HF). The known factors of AD-like HP, CAD, hyperlipidemia, BAV, and obesity, were also AD risk factors, but were not as important. Our study showed a high frequency of AscAA and dilation. Standard risk factors of AscAA such as HP, hyperlipidemia, or obesity are significantly more common in patients with AD, but the main factors in the formation of AD are age, male sex, vmax AV, blood pressure, AS, AR, HF, and diabetes mellitus. In males with BAV, AD incidence did not differ significantly, but the presence of congenital heart disease was one of the 12 main risk factors for the formation of AD and association with more significant aortic dilatation in AscAA groups.

Surgical outcomes of infective endocarditis in pediatrics: Moving the needle to a contemporary, multidisciplinary approach

BackgroundInfective endocarditis (IE) is an uncommon disease in children that, when present, is accompanied by significant morbidity and mortality. The presence of congenital heart disease often complicates management. The aim of the present study is to describe the characteristics and outcomes of children undergoing surgery for IE. MethodsA retrospective chart review from 2004 to 2020 was conducted to identify consecutive patients younger than age 20 years with IE undergoing surgery. ResultsA total of 94 patients with IE were identified, of whom 47 underwent surgery at a median age of 16.7 years. Thirty-one patients (65.95%) had congenital heart disease. Vegetation and embolic phenomena occurred in 41 and 29 patients (87.23% and 61.7%), respectively, with the brain as most common location (57.1%). Native valve involvement had a greater tendency to embolize (P < .001). Staphylococcus spp was the most common organism (49%). The mitral valve was the most affected (31.9%). Seven (14.9%) patients had multivalvar involvement and valve replacement was the most common procedure performed (37 patients; 78.7%). There were 3 operative deaths (6.4%). Median length of hospital stay was 21 days. Risk factors for prolonged hospital stay were time to surgery in days (P < .001) and native valvar involvement (P = .05). Five patients (10.6%) had postoperative recurrent IE. Survival at 1 and 5 years was 93.6% and 89.4%, respectively. ConclusionsChildren with IE can undergo surgery with acceptable results. The morbidity, but not mortality, is driven by embolic complications. Staphylococcus spp and native valve involvement are significant risk factors. Video Abstract [Display omitted]

Outcomes in congenital and childhood complete atrioventricular block: A meta-analysis.

The long-term outcomes of patients with congenital and childhood complete atrioventricular block (CCAVB/CAVB) after pacemaker implantation are unclear. We performed a meta-analysis of all the studies of CCAVB. A systematic search of PubMed and CENTRAL databases from January 1, 1967 to January 31, 2020 was performed. The quality of studies included was critically appraised using the Newcastle-Ottawa scale, and outcome data were analyzed using the restricted maximum likelihood function. Twenty-nine studies were eligible for analysis, with a total of 1553 patients. The all-cause-mortality was 5.7% (95% confidence interval [CI]: 2.5%-9.9%), while pacing-induced cardiomyopathy (PICM) was seen in 3.8% (95% CI: 1.2-7.2). Diagnosis at birth (effect size [ES] [95%CI]: -2.23 [-0.36 to -0.10]; p < .001), presence of congenital heart disease (ES [95%CI]: -0.67 [0.41-0.93]; p < .001), younger age at pacemaker implantation (ES [95%CI]: -0.01 [-0.02 to -0.001]; p = .02), and duration of pacing (ES [95%CI]: -0.03 [-0.05 to -0.003]; p = .03), were associated with an higher mortality on binominal logistic regression. None of the parameters were significant on multivariate analysis. Pooled proportional mortality in patients with CCAVB and CAVB is 5.7% with an infrequent incidence of PICM (3.8%) in the paced patients with AVB suggesting that pacing in these patients is an effective management strategy with a low incidence of long-term side effects. Registry and randomized data can throw additional light regarding the natural history and appropriate management strategy in these patients.

Effect of Antibiotics in Preventing Hospitalizations From Respiratory Tract Infections in Children With Down Syndrome

To determine the impact of antibiotic prescription for respiratory tract infections (RTIs) on the subsequent risk of RTI-related hospitalizations in children with Down syndrome (DS).Children aged ≤18 years (defined in groups: 0–1 years; 1–5 years; 5–10 years; and 10–18 years), with DS (as identified by Read and International Statistical Classification of Diseases and Related Health Problems 10th Revision, codes) were included. Each child with DS in the cohort were frequency matched by general practitioner (GP), sex, birth year (+/− 5 years), and start of follow-up age ≤18 years (follow-up was defined as a period of 28 days from the initial RTI-related GP consultation or until the first RTI-related hospitalization).Information regarding health care use was extrapolated from Clinical Disease Research Using Linked Bespoke Studies and Electronic Health Records, an electronic health records database in the United Kingdom, on the basis of Read and International Statistical Classification of Diseases and Related Health Problems 10th Revision, codes, to classify types of RTIs (lower respiratory tract infection; upper respiratory tract infection; unclassified) and probable versus possible RTI, identify diagnosis of DS and other comorbidities, and determine admission and discharge dates. Extracted data were reviewed and confirmed by a committee of clinicians and academic professionals. Logistic regression models were used to assess the impact of antibiotic prescriptions on the risk of subsequent RTI-related hospitalization in DS patients with RTI-related GP consultations. In subgroup analyses, the researchers further explored the effect of antibiotics across different age groups and type of RTI.Both cohorts (DS: 992; control: 4874) had similar demographic characteristics for sex and age. There were more White individuals in the group with DS versus in the control group (58.5% vs 41.8%) and more comorbidities in the group with DS. Antibiotic prescriptions after an RTI-related GP consultation did not significantly reduce the risk of the 28-day RTI-related hospitalization for either group, even after adjusting for antibiotic prescription, age group, sex, presence of congenital heart disease, presence of asthma, and number of previous RTI-related hospitalizations and RTI-related GP consultations in the previous 6 months. When adjusted for the same covariates, RTI-related hospitalizations were significantly reduced in DS individuals aged 0–1 years who were prescribed antibiotics for RTI-related concerns (adjusted odds ratio: 0.260; 95% confidence interval: 0.077 to 0.876) but not in other age groups. This protective effect was also not seen by type of RTI or in the control group.Aside from infants aged 0 to 1 years with DS, antibiotic prescriptions did not reduce RTI-related hospitalizations.It appears that children with DS are frequently prescribed antibiotics for viral infections in the United Kingdom. Although antibiotics have not been shown to reduce hospitalizations for RTI in the general pediatric population, in previous studies, researchers did not include children with comorbidities, prompting these authors to specifically examine children with DS. It is unclear how antibiotic prescribing behavior for this special population compares between the United Kingdom and the United States, thus limiting the generalizability of these results. Nevertheless, the authors surmise that nonantibiotic interventions to manage RTIs in medically complex children can be effective, which is consistent with our outpatient stewardship efforts to combat antibiotic misuse and resistance in the United States.

Assessment of the prevalence of congenital heart disease in children with pneumonia in tertiary care hospital: A cross-sectional study

Background and objectivesPneumonia is the most common cause of death in children under five years of age. Epidemiological factors and the disease burden differ in developing and industrialized countries. The present study is a cross sectional observational study, carried out from August 2018 to August 2020 in Hindu Rao Hospital, to assess the prevalence of congenital heart disease (CHD) in patients with pneumonia in children up to 5 years. The main objectives of the study were to study the prevalence of congestive cardiac failure (CCF) in pneumonia with and without congenital heart disease. Material and methodsPatients under 5 years of age, presenting with pneumonia during August 2018 to July 2020 were enrolled for study. The bio-data of each patient was documented each patient was clinically evaluated thoroughly and findings noted. Pneumonia was diagnosed on typical history, physical findings, blood investigations and chest radiographic finding of pneumonia infiltrates in either one or both lung fields. All the cases of pneumonia underwent transthoracic 2 Dimensional (2D) and Doppler echocardiography, done by the cardiologist. Any congenital heart disease so found was noted. The type and size of the defects was documented. The ventricular septal defects were classified based on the site and size. The size of the patient ductus arteriosus was also determined. These measurements were taken to evaluate the impact of defect size on pneumonia. CCF was diagnosed when the patient fulfilled the clinical diagnostic criteria of heart failure. All the cases of pneumonia underwent transthoracic 2 Dimensional (2D) and Doppler echocardiography for diagnosis of any congenital heart disease. ResultsMean age of the children with pneumonia was 9.94 months with 77.5% of the cases below 1 year of age. Male predominance was seen with 56.3% males to 43.8% females. Prevalence of congenital heart disease among cases of pneumonia was 12.5% while that of congestive heart failure was 27.5%. Most common CHD observed was VSD (14 cases; 8.8%) followed by PDA, ASD and TGA (4; 2.5% and 3; 1.9% and 1; 0.6% cases respectively). A significant association was observed between presence of congenital heart disease and development of CCF. ConclusionOur study demonstrates that most patients with pneumonia or recurrent pneumonia are likely to have an underlying illness at the time of pneumonia. Recurrent ALRTI often occurred in children with history of congenital heart diseases (CHD) and is also associated with Congestive Cardiac Failure. Children with CHD are more vulnerable to recurrent respiratory tract infection.

Abstract 12333: Intravenous Sotalol for Adenosine Refractory Supraventricular Tachycardia

Introduction: For re-entrant supraventricular tachycardia (SVT) that is refractory to adenosine, options of intravenous (IV) anti-arrhythmics for acute conversion are limited. IV sotalol has become more readily available, but experience in children with adenosine refractory SVT is limited. Hypothesis: IV sotalol is safe and effective for acute termination of adenosine refractory re-entrant SVT. Methods: A retrospective study of all pediatric patients receiving IV sotalol for SVT from 2016-2021, that had previously failed to convert with adenosine administration was performed. SVT consisting of orthodromic reciprocating tachycardia were included, all other supraventricular arrhythmias were excluded. Patient demographics, presence of congenital heart disease (CHD), arrhythmia type, efficacy of IV sotalol use and adverse effects were evaluated. For patients that failed to convert after the administration of adenosine a 1 mg/kg IV bolus of sotalol was given over 1 hour. Complete efficacy was defined as SVT terminating with IV sotalol bolus, partial efficacy was defined as adenosine converting SVT during or after the sotalol bolus, when adenosine had previously failed to convert SVT. Results: A total of 20 separate SVT events were treated with IV sotalol in 19 patients (53% male). Wolff-Parkinson-White syndrome was present in 5/19 patients (26%), and 9/19 patients (47%) had associated CHD. Patients had a median age of 0.24 yrs (IQR 0.03-6.86 yrs), median weight 4.30 kg (IQR 3.61 - 25.55 kg). Ventricular function prior to IV sotalol use was mildly or moderately depressed in 5/19 (26%) patients. Of the 20 events 5 (25%) were during the acute post-operative period. A single IV sotalol bolus was effective in converting adenosine refractory SVT in 19/20 (95%) events, with 16/20 (80%) having complete efficacy and 3/20 (15%) with partial efficacy. Median time to conversion was 0.5 hours (IQR 0.3-0.98 hours). No patient experienced an adverse effect during IV sotalol bolus. Conclusions: IV sotalol is a safe and effective antiarrhythmic option for acute conversion of adenosine refractory SVT.

The role of calcification biomarkers in the formation of aortic stenosis

Abstract Background The main mechanism of aortic valve (AV) calcification is not yet known. One of the possibility pathway responsible for AV calcification (AVC) includes osteoprotegerin (OPG), receptor activator of nuclear factor kappa-B ligand (RANKL) – the parts of the RANKL-RANK-OPG system and fetuin-A: cysteine protease inhibitors. Aim Evaluation of OPG, sRANKL, fetuin-A in blood serum and tissues in patients with varying severity of aortic stenosis (AS) to establish potential methods of estimation AVC depending on the presence of congenital heart disease: bicuspid AV (BAV) or its absence. Materials and methods The study involved 285 patients with AS (59.06±6.95 years, m:f – 1.1:1): 163 with (BAV) and 122 with tricuspid AV (TAV). The control group 53 patients (48.31±9.04 years, m:f-1:1) without valvular pathology, connective tissue dysplasia and coronary heart disease. ECHO (Vivid 7, GE, USA) was performed in all patients. The expression of OPG, RANKL, fetuin-A in homogenates of aortic valve were determined by immunoblotting. Serum concentration of OPG, RANKL, fetuin were performed in all pts by enzyme-linked immunosorbent assay. Results In the control group the concentration of fetuin-A in the blood serum was significantly higher than in TAV and BAV subgroups (446.66 [293.63; 619.19] vs 319.9 [239.6; 400.2] vs 315.6 [245.6; 385.6] pmol/l, p=0.ehab724.1560001). In all groups of patients with AS an increased level of sRANKL in the blood serum was revealed compared to the control group (TAV=0.39 [0.25; 0.53] vs BAV=0.38 [0.21; 0.55] vs control group 0.31 [0.18; 0.44] pmol/l; p&amp;lt;0.005). OPG level in serum was increased in patients with TAV: 8.1 [4.3; 11.9] pmol/l compared to BAV: 6.8 [3.9; 9.7] pmol/l, p=0.003, as well as the control group: 6.15 [3.41; 8.89] pmol/L, p=0.001. RANKL expression in AV tissue was significantly lower in patients in the control group: 2119,06 [1990.94; 2554.11] as compared with AS pts: 4273.03 [2887.620; 4956], p=0.001, and in subgroups with TAV: 4273.08 [2887.620; 5285], p=0.002 or BAV: 4272.99 [2884.430; 4847], p&amp;lt;0.01. In addition, a positive correlation of moderate strength was found between the RANKL in the blood serum and the expression of RANKL in the AV tissue in patients with BAV (r=0.357, p=0.04). OPG expression in the AV tissue was higher in patients in the control group: 3949,953 [1931.88; 6447.67], while significant only in comparison with the BAV subgroup: 2599.28 [1066.38; 4132.18], p=0.02. A positive correlation of moderate strength was found between the OPG in the blood serum and the expression of OPG in the AV tissue in TAV subgroup (r=0.423, p=0.03). Conclusion Different pathogenic mechanisms of AV calcification are accompanied by an increase in various markers of the OPG / RANK / RANKL system: in patients with TAV calcification marker is OPG, in patients with BAV it is RANKL. Funding Acknowledgement Type of funding sources: None.

Risk factors for mortality in preterm infants with necrotizing enterocolitis: a retrospective multicenter analysis

It is difficult to predict the risk of mortality in necrotizing enterocolitis (NEC). This study aimed at identifying risk factors for severe NEC (Bell stage III) and mortality in preterm children with NEC. In this multicenter retrospective study, we analyzed multiple data from 157 premature children with confirmed NEC in the period from January 2007 to October 2018. We performed univariate, multivariate, stepwise logistic regression, and receiver operator characteristics (ROC) analyses. We were able to demonstrate that low Apgar scores (notably at 1′ and 5′), low hemoglobin concentration (Hgb), and high lactate level at disease onset and during disease correlated with NEC severity and mortality (P < 0.05, respectively). Severe NEC was related to congenital heart disease (CHD — OR 2.6, CI95% 1.2–5.8, P 0.015) and patent ductus arteriosus (PDA — OR 3.3, CI95% 1.6–6.9, P 0.0012), whereas death was related to the presence of PDA (OR 5.5, CI95% 2.3–14, P < 0.001).Conclusion: Low Apgar scores, low Hgb, high lactate levels, and the presence of CHD or PDA correlated with severe NEC or mortality in children with NEC.What is Known:• It remains difficult to predict which infant that suffers from necrotizing enterocolitis at risk of death.• Several clinical and laboratory parameters tools to predict fatal outcome in NEC.What is New:• The following laboratory parameters were associated with the risk of death from NEC: Hemoglobin concentration, base excess and lactate level.• The following clinical variables were associated with the risk of death from NEC: Apgar scores, as well as the presence of congenital heart disease and patent ductus arteriosus.

The impact of CIEDs with automatic "wireless" remote monitoring on efficiency.

A benefit of automatically transmitting or "wireless" CIEDs (W-CIED) is the prompt detection of device malfunction and arrhythmias. We hypothesized that the use of W-CIEDs would improve the efficiency of remote monitoring by decreasing unnecessary CIED remote transmissions because of the automatic detection of abnormalities. To compare the frequency of patient-initiated transmissions in patients with W-CIEDs versus non-wireless CIEDs (NW-CIED) at a single pediatric and congenital heart center. Retrospective cohort study of patients with W-CIEDs followed over a 2-year period compared to a similar cohort of patients with NW-CIED. All CIED remote transmissions during were reviewed for indication and outcome. The W-CIED cohort had 87 patients; mean age 20 ± 13 years; NW-CIED cohort had 220 patients; mean age 22 ± (13) years. The mean number of symptomatic patient-initiated transmissions per patient was 0.93 ± 2.65 in the W-CIED cohort versus 0.39 ± 0.64 in the NW-CIED cohort (p≤.001). The mean number of asymptomatic patient-initiated transmission sent per patient in the W-CIED cohort was 1.86 ± 2.59versus 0.81 ± 1.41 in the NW-CIED cohort (p≤.0001). Type of device, age, and presence of congenital heart disease were not significantly associated with the incidence of patient-initiated remote monitoring transmissions. The frequency of patient-initiated transmission was higher in the W-CIED cohort, contradictory to the study hypothesis. This may reflect a lack of patient understanding of the benefit or functionality of W-CIEDs and may be mitigated by education to both providers and patients.

Vectorcardiography as a prognostic tool in hypertrophic cardiomyopathy

BackgroundVectorcardiography (VCG) has demonstrated diagnostic value in the assessment of hypertrophic cardiomyopathy (HCM), however, determining its prognostic value over time has not yet been investigated. This study sought to assess the correlation of VCG parameters with the progression of HCM. MethodsA retrospective chart review of 119 pediatric patients with diagnosis of HCM at the University of Minnesota. Eighty-three cases were excluded because of age, presence of congenital heart disease, not meeting criteria for HCM or negative phenotype. Sample was divided into 2 groups based on the presence or not of cardiac events (ventricular tachycardia, cardiac arrest, ventricular assist device, heart transplant). Derived vectorcardiography from standard 12‑lead ECG was obtained for the first ECG and last available or prior to sentinel event. ResultsOf the 36 cases that met inclusion criteria, 9 (25%) developed a sentinel event. The median age for the event group was 10.1 ± 7.5 years and for the non-event group was 8.7 ± 6.35 years. There was no significant difference in age or sex between the groups.The T wave vector magnitude value was significantly smaller in the event group than in the non-event group (0.302 ± 0.146 mV Vs. 0.561 ± 0.305 mV, p 0.002), with a hazard ratio of 0.651 (95% CI 0.463 to 0.915). No other parameter showed significant difference between the two groups. ConclusionsThe T wave vector magnitude may predict sentinel events in HCM. Prospective studies are necessary to evaluate the utility of the evolution of VCG parameters.