A 1-Day-Old Girl With Infantile Hemangioma and Sternal Cleft.

CASE PRESENTATION: A newborn girl presented to the hospital on the first day of life because of respiratory failure. She was born at home at 37 weeks' gestation with minimal prenatal care and was found to be small for gestational age. The patient was found to have partial sternal agenesis and sternal cleft, cutis aplasia, left facial hemangioma, micrognathia, wide-spaced nipples, and low-set ears. The mother's and baby's urine toxicology screening were positive for amphetamines. Chest radiographs on admission showed bilateral hazy opacities. CT scan of the chest showed an absent sternum with midline chest wall concavity. The patient was monitored preoperatively in the cardiac ICU for risks of arrythmia, respiratory failure, altered cardiac output, and acute cardiopulmonary decompensation.

Meta-analysis reveals differential gene expression in tetralogy of Fallot versus controls.

OBJECTIVES: Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart defect in the United States. We aimed to identify genetic variations associated with TOF using meta-analysis of publicly available digital samples to spotlight targets for prevention, screening, and treatment strategies. METHODS: We used the Search Tag Analyze Resource for Gene Expression Omnibus (STARGEO) platform to identify 39 TOF and 19 non-TOF right ventricle tissue samples from microarray data and identified upregulated and downregulated genes. Associated gene expression data were analyzed using ingenuity pathway analysis and restricted to genes with a statistically significant (p < .05) difference and an absolute experimental log ratio >0.1 between disease and control samples. RESULTS: Our analysis identified 220 genes whose expression profiles were significantly altered in TOF vs. non-TOF samples. The most striking differences identified in gene expression included genes FBXO32, PTGES, MYL12a, and NR2F2. Some top associated canonical pathways included adrenergic signaling, estrogen receptor signaling, and the role of NFAT in cardiac hypertrophy. In general, genes involved in adaptive, defensive, and reparative cardiovascular responses showed altered expression in TOF vs. non-TOF samples. CONCLUSIONS: We introduced the interpretation of open "big data" using the STARGEO platform to define robust genomic signatures of congenital heart disease pathology of TOF. Overall, our meta-analysis results indicated increased metabolism, inflammation, and altered gene expression in TOF patients. Estrogen receptor signaling and the role of NFAT in cardiac hypertrophy represent unique pathways upregulated in TOF patients and are potential targets for future pharmacologic treatments.

Pediatric extracorporeal life support for refractory status asthmaticus: ELSO Registry trends from the past decade.

BACKGROUND: Extracorporeal life support (ECLS) for status asthmaticus (SA) is rare. Increased safety and experience may increase utilization of ECLS for SA. METHODS: We reviewed pediatric (<18 years old) patients requiring ECLS for SA between 1998 and 2019 within the Extracorporeal Life Support Organization (ELSO) Registry and Nemours Children's Health (NCH) system. We compared patient characteristics, pre-ECLS medications, clinical data, complications, and survival to discharge between Early (1988-2008) and Late (2009-2019) eras. RESULTS: From the ELSO Registry, we identified 173 children, 53 in Early and 120 in Late eras, with primary diagnosis of SA. Pre-ECLS hypercarbic respiratory failure was similar between eras (median pH 7.0 and pCO2 111 mm Hg). Venovenous mode (79% vs. 82%), median ECLS time (116 vs. 99 h), time to extubation (53 vs. 62 h), and hospital survival (89% vs. 88%) also remained similar. Intubation to cannulation time significantly decreased (20 vs. 10 h, p = 0.01). ECLS without complication occurred more in the Late era (19% vs. 39%, p < 0.01), with decreased hemorrhagic (24% vs. 12%, p = 0.05) and noncannula-related mechanical (19% vs. 6%, p = 0.008) complications. Within NCH, we identified six Late era patients. Pre-ECLS medication favored intravenous beta agonists, bronchodilators, magnesium sulfate, and steroids. One patient died from neurological complications following pre-ECLS cardiac arrest. CONCLUSIONS: Collective experience supports ECLS as a rescue therapy for pediatric SA. Survival to discharge remains good, and complication rates have improved. Pre-ECLS cardiac arrest may potentiate neurologic injury and impact survival. Further study is needed to evaluate causal relationships between complications and outcomes.

Tetralogy of Fallot Associated With Right Aortic Arch and Isolated Left Brachiocephalic Artery.

A newborn presented with tetralogy of Fallot (TOF), right aortic arch (RAA), and isolated left brachiocephalic artery. The RAA supplied the right common carotid artery, right vertebral artery, and right subclavian artery, in that order. The left common carotid and left subclavian arteries were in continuity with no aortic origin. Ultrasound demonstrated retrograde flow in the left vertebral artery supplying antegrade flow to the diminutive left subclavian artery (ie, "steal phenomenon"). The patient underwent repair of TOF without intervention on the left common carotid or left subclavian arteries and is being followed conservatively.

Commentary: Gender differences in payments to cardiothoracic surgeons are unacceptable.

Every effort must be made by the leaders in our field, as well as by every individual cardiothoracic surgeon, to assure equal opportunity for all cardiothoracic surgeons, regardless of race, gender or any other sociodemographic source of bias. Every effort must be made by every surgeon, not just those in particular leadership roles. Opportunities for advancement must be equal in multiple domains, including clinical practice, patient referral, clinical leadership, academic leadership, institutional leadership and leadership in professional medical and surgical societies. Such actions to minimize bias and promote inclusivity will also ensure that cardiothoracic surgical care is provided by a workforce that represents the diversity of patients whom we serve. In the final analysis, it is an absolute fact that gender differences in payments to cardiothoracic surgeons are absolutely unacceptable and cannot be tolerated.

The Society of Thoracic Surgeons Congenital Heart Surgery Database: 2022 Update on Outcomes and Research.

The Society of Thoracic Surgeons (STS) Congenital Heart Surgery Database continues to be one of the most comprehensive clinical outcomes registries capturing almost all pediatric cardiothoracic surgical operations undertaken in the United States. The latest analysis of aggregate outcomes was performed after the 33rd data harvest and included congenital and pediatric cardiac operations performed between July 1, 2017 and June 30, 2021. This article summarizes these contemporary outcomes and provides a context for the interpretation of these outcomes. In addition this article describes ongoing efforts to improve data collection and augment analytical approaches. Finally, research activities undertaken in the last year using data from the database are also summarized.

Educating Surgeons to Construct Valved Conduits: What Does It Take to Achieve Reproducible Results?

BACKGROUND: Despite the demonstrated utility of surgeon-fashioned polytetrafluoroethylene (PTFE) valved conduits, methods for educating surgeons to reproducibly construct these conduits are lacking. We present a surgeon education process and early outcomes for children receiving surgeon-fashioned PTFE valved conduits during the initial learning curve. METHODS: The educational curriculum included 4 hours of proctored instruction/supervised valve construction, followed by 2 hours of individual practice. A surgeon with prior mastery of the technique provided templated designs, videos, and follow-up consultation. A retrospective medical record review (2017-2022) described early outcomes and valve function for patients receiving surgeon-fashioned PTFE right ventricle-to-pulmonary artery conduits. RESULTS: Two surgeons were educated using the method described. Fifteen valved conduits were implanted in 14 patients (median patient age, 38 months; conduit size range, 10-24 mm). At discharge, no patient had more than mild stenosis or regurgitation, and 12 of 15 valves (80%) had none or trivial regurgitation. Median follow-up was 14 months (range, 1-52 months). At the last follow-up, median peak conduit gradient of the 15 valves was low (18 mm Hg), 1 (7%) had moderate stenosis, and 1 (7%) had mild-moderate regurgitation. Two conduits were replaced concomitantly during repair of associated lesions at 14 and 38 months (sizes 10 and 12 mm, respectively). There were no deaths and no infectious complications. CONCLUSIONS: Four hours of proctored surgeon education plus deliberate practice is an effective method for teaching valved PTFE conduit construction and is associated with excellent early valve function. This study provides educational methods and initial evidence of safety for congenital surgeons wishing to learn and adopt this technique.

Development of a Novel Society of Thoracic Surgeons Adult Congenital Mortality Risk Model.

BACKGROUND: Operative mortality risk models for adults with congenital heart disease (ACHD) undergoing cardiac operations are essential, given the growing population of these patients, yet they are currently unavailable. Existing adult Society of Thoracic Surgeons (STS) models exclude congenital procedures, whereas existing congenital models exclude operations for acquired disease. We aimed to develop an STS mortality risk model for ACHD patients undergoing cardiac operations. METHODS: Leveraging a comprehensive list of diagnostic and procedure codes, ACHD patients who underwent cardiac operations were identified from the STS Adult Cardiac Surgery Database (versions: v2.73, v2.81, and v2.9) between 2011 and 2019. The model was developed and validated in the ACHD population using a 60/40 development/validation split. Univariate analyses and clinical expertise informed the addition of ACHD-relevant procedure and diagnosis variables to existing STS adult risk model variables. Model performance was assessed overall and in 38 subgroups based on patient demographics, procedures, and diagnoses. RESULTS: Forty-seven procedure and diagnosis variables relevant to ACHD were added to existing STS adult risk model variables. The derived ACHD model for operative mortality was well calibrated within demographic, procedural, and diagnosis subgroups and the overall ACHD population, and discrimination in the validation cohort was excellent (C statistic, 0.815) compared with the model using only existing STS adult risk model variables (C statistic, 0.79; P < .0001). CONCLUSIONS: A novel, high-performing STS ACHD mortality risk model has been developed on the basis of contemporary patient data. The ACHD risk model represents an important expansion of the STS portfolio. Implementation with an online risk calculator is planned.

Idiopathic Pericardial Effusions in Children: Workup and Final Diagnoses.

Pediatric idiopathic pericardial effusions are common and often have a prolonged clinical course. We hypothesized that these effusions have no standardized diagnostic workup, and ultimately have a final etiology not initially appreciated. To test these hypotheses, a hospital system-wide retrospective (1/1/1990-10/1/2019) cohort study of pericardial effusions in children (< 18 years) was conducted. Effusions were grouped by etiology and patients receiving an initial idiopathic diagnosis were further analyzed. Effusion size, diagnostic workup, final diagnosis, and time to resolution were abstracted. In total, 42/366 effusions were initially diagnosed as idiopathic. Workup was not standardized and included up to six laboratory tests including pericardial fluid analysis and infectious, metabolic, rheumatologic and thyroid workups. Treatment course involved 1 readmission in 24%, and > 1 readmission in 12%. Resolution of effusion occurred in 83% of patients within a median of 1 admission (range 1-4). Of those effusions initially deemed idiopathic, 12/42 (29%) were later found to have an underlying etiologic diagnosis including: autoimmune (7, 58%), neoplastic (2, 16%), infectious (2, 16%), and renal (1, 8%). Children initially diagnosed with idiopathic pericardial effusions have an underlying etiologic diagnosis 29% of the time, and a standardized workup may prevent delays in definitive diagnosis and treatment.

Extracorporeal Life Support for Status Asthmaticus: Early Outcomes in Teens and Young Adults.

Extracorporeal life support (ECLS) may be life saving for patients with status asthmaticus (SA), a difficult-to-treat, severe subset of asthma. Contemporary ECLS outcomes for SA in teens and young adults are not well described. The Extracorporeal Life Support Organization (ELSO) Registry was reviewed (2009-2019) for patients (15-35 years) with a primary diagnosis of SA. In-hospital mortality and complications were described. Multivariable logistic regression was used to identify independent risk factors for hospital mortality. Overall, 137 patients, (26 teens and 111 young adults; median age 25 years) were included. Extracorporeal life support utilization for SA sharply increased in 2010, coinciding with increased ECLS utilization overall. Median ECLS duration and length of stay were 97 hours and 11 days, respectively. In-hospital mortality and major complication rates were 10% and 11%, respectively. Nonsurvivors were more likely to have experienced ECLS complications, compared to survivors (86% vs. 42%, p = 0.003). Independent risk factors for in-hospital mortality included pre-ECLS arrest and any renal and/or neurologic complication. Prospective studies designed to evaluate complications and subsequent failure to rescue may help optimize quality improvement efforts.

Comparison of DNA methylation patterns across tissue types in infants with tetralogy of Fallot.

BACKGROUND: Environmental factors may influence the development of tetralogy of Fallot (TOF), and DNA methylation patterns may reveal specific chemical signatures of perturbations during cardiac development. We investigated whether blood and buccal cells could be viable surrogates for myocardium. METHODS: We measured epigenome-wide DNA methylation at 866,895 5'-cytosine-phosphate-guanine-3' (CpG) sites in blood (n=3), buccal cells (n=3), and right ventricular myocardium (n=4) collected from infants with TOF and compared the percent of differentially methylated CpG sites across tissue types. Gene-specific DNA methylation profiles were also analyzed for ten representative genes associated with heart development. Welch's ANOVAs compared general methylation between tissue types. RESULTS: Comparison of DNA methylation profiles across blood, buccal, and myocardium suggested myocardium and buccal samples were most similar, differing in DNA methylation at only 1.3% (11,386) of CpG sites whereas myocardium and blood were most dissimilar, having 146,857 statistically dissimilar methylated CpG sites (~17% dissimilarity; adjusted p < 0.01 for each site). Buccal swabs were significantly more variable (p < .001) than either blood or myocardial samples. In gene-specific analyses, SCO2, GATA4, NOTCH4, WNT7A, and DKK2 showed conserved DNA methylation profiles across tissue types, while HAND1, JAG1, NKX2-5, TBX5 and TBX20 showed more distinctive tissue-specific patterns of DNA methylation. CONCLUSIONS: Compared with blood, buccal tissue more closely mirrors the myocardial methylome, with >10-fold similarity. Nevertheless, both buccal and blood tissue capture highly conserved DNA methylation patterns at specific genetic loci related to cardiac development. Buccal cheek swabs may be a useful surrogate tissue type for future investigations of TOF-specific epigenetic profiles.

Concurrent double aortic arch and circumflex aorta repair in a symptomatic child: a case report.

Double aortic arch with circumflex aorta is a rare type of vascular ring. Symptoms result from external compression of the trachea and esophagus. The best surgical approach for patients with double arch and circumflex aorta is debated, and options include the highly complex aortic uncrossing procedure. Herein we describe the surgical treatment of a patient with concurrent double aortic arch and circumflex aorta by division of the non-dominant arch and ligamentum arteriosum, plication and posterior tacking of the diverticulum of Kommerell. This left thoracotomy approach provided complete symptom resolution.