Pediatrics Commons^™

Ventricular Fibrillation Due To A Likely Pathogenic Sos1 Variant: An Unrecognized Etiology Of Infantile Sudden Death?, Christopher Follansbee, Lindsey Malloy-Walton

Manuscripts, Articles, Book Chapters and Other Papers

We present the case of a female infant presenting after a ventricular fibrillation arrest found to have ectopic atrial tachycardia (EAT). Evaluation revealed a likely pathogenic variant in SOS1 not previously reported in affected individuals. SOS1 variants are associated with Noonan syndrome, which belongs to a family of related genetic syndromes affecting the RAS/MAPK signaling pathway. To date, this is the first case reported of a ventricular fibrillation arrest in a patient with a RASopathy-related variant prior to development of the typically associated structural cardiac phenotype and may represent a previously unrecognized etiology of sudden death during infancy.

Detection Of Subclinical Rheumatic Heart Disease In Children Using A Deep Learning Algorithm On Digital Stethoscope: A Study Protocol, Fatima Ali, Babar Hasan, Huzaifa Ahmad, Zahra Hoodbhoy, Zainab Bhuriwala, Muhammad Hanif, Shahab U. Ansari, Devyani Chowdhury

Department of Paediatrics and Child Health

Introduction: Rheumatic heart diseases (RHDs) contribute significant morbidity and mortality globally. To reduce the burden of RHD, timely initiation of secondary prophylaxis is important. The objectives of this study are to determine the frequency of subclinical RHD and to train a deep learning (DL) algorithm using waveform data from the digital auscultatory stethoscope (DAS) in predicting subclinical RHD.
Methods and analysis: We aim to recruit 1700 children from a group of schools serving the underprivileged over a 12-month period in Karachi (Pakistan). All consenting students within the age of 5-15 years with no underlying congenital heart disease will be eligible …

The Design And Rationale Of A Multicenter Real-World Trial: The Southeastern Collaboration To Improve Blood Pressure Control In The Us Black Belt – Addressing The Triple Threat, Tina O Findley, Hope Northrup

Faculty, Staff and Student Publications

The incidence of congenital heart defect (CHD) has increased over the past fifty years, partly attributed to routine fetal anatomical examination by sonography during obstetric care and improvements in ultrasound technology and technique. Fetal findings on ultrasound in addition to maternal biomarkers are the backbone of first- and second-trimester screening for common genetic conditions, namely aneuploidy. Since the introduction of non-invasive prenatal testing (NIPT) using next-generation sequencing to sequence cell-free fetal DNA, the detection rate of common trisomies as well as sex chromosomal aneuploidies have markedly increased. As the use of NIPT continues to broaden, the best means of incorporating …

The Cgas–Sting Pathway In Diabetic Retinopathy And Age-Related Macular Degeneration, Shannon Erhardt, Mingjie Zheng, Xiaolei Zhao, Tram P Le, Tina O Findley, Jun Wang

Faculty, Staff and Student Publications

The neural crest (NC) is a multipotent and temporarily migratory cell population stemming from the dorsal neural tube during vertebrate embryogenesis. Cardiac neural crest cells (NCCs), a specified subpopulation of the NC, are vital for normal cardiovascular development, as they significantly contribute to the pharyngeal arch arteries, the developing cardiac outflow tract (OFT), cardiac valves, and interventricular septum. Various signaling pathways are shown to orchestrate the proper migration, compaction, and differentiation of cardiac NCCs during cardiovascular development. Any loss or dysregulation of signaling pathways in cardiac NCCs can lead to abnormal cardiovascular development during embryogenesis, resulting in abnormalities categorized as …

Diagnostic Accuracy Of Machine Learning Models To Identify Congenital Heart Disease: A Meta-Analysis, Zahra Hoodbhoy, Uswa Jiwani, Saima Sattar, Rehana A. Salam, Babar Hasan, Jai K. Das

Department of Paediatrics and Child Health

Background: With the dearth of trained care providers to diagnose congenital heart disease (CHD) and a surge in machine learning (ML) models, this review aims to estimate the diagnostic accuracy of such models for detecting CHD.
Methods: A comprehensive literature search in the PubMed, CINAHL, Wiley Cochrane Library, and Web of Science databases was performed. Studies that reported the diagnostic ability of ML for the detection of CHD compared to the reference standard were included. Risk of bias assessment was performed using Quality Assessment for Diagnostic Accuracy Studies-2 tool. The sensitivity and specificity results from the studies were used to …

Transient Tricuspid Valvulitis: Another Brief Casualty Of Covid-19 In Children, Amulya Buddhavarapu, Girish S. Shirali, Stephen Kaine, Doaa Aly

Posters

Clinical Presentation:

We discuss 3 patients, 8-10 years old, with significant tricuspid valve dysfunction during initial days of admission for multi-system inflammatory syndrome in children (MIS-C) associated with coronavirus 2019 (COVID-19) infection.

All 3 patients had COVID antibodies and presented in uncompensated shock needing aggressive fluid resuscitation and vasoactive support. Elevated acute inflammatory markers, acute kidney injury (2/3 patients), troponin leak and repolarization abnormality on ECG were present on admission and resolved by discharge. All were treated with intravenous immunoglobulin (IVIG) infusion, high-dose steroids and prophylactic low molecular weight heparin. They were discharged home on aspirin and steroid taper.

All …

Challenges In Echocardiographic Diagnosis Of Corrected Malposition Of Great Arteries: The Segmental Approach Coming Handy, Amulya Buddhavarapu, Anmol Goyal, Sanket Shah, Nitin Madan, Hayley S. Hancock, Maria Kiaffas

Posters

Clinical Presentation

Two cases of {S,D,L} anatomically corrected malposition of great arteries (ACMGA) are presented with differences in conal anatomy. Case 1: A fetal echocardiogram (echo) performed at 28 weeks gestation due to multiple anomalies revealed atrial situs solitus, D-loop ventricles, a large conoventricular septal defect (VSD) and an overriding, anterior and leftward aorta. The diagnosis of double outlet right ventricle (DORV) vs ACGMA was entertained. Postnatal echo revealed {S,D,L} segmental anatomy with ventriculoarterial concordance consistent with ACGMA and a muscular VSD. Case 2: A 3-week-old boy presented to clinic for a murmur evaluation with no associated cardiac symptoms. Transthoracic …

Correlation Between Strain And Weight Status In Infants With A Univentricular Hear, Amulya Buddhavarapu, Mathew Warren, Lori Erickson, Christopher Mathis, Whitney Haas, Daniel Forsha

Posters

Background

Infants with univentricular physiology are at risk of poor weight gain and reduced ventricular function, both of which have been independently associated with worse outcomes. Since nutritional status has been correlated to ventricular function in other populations, we evaluated the relationship between nutritional status and ventricular function including speckle-tracking strain during this period.

Methods

Thirty term infants (median age 55 days, 13 females) with univentricular physiology prior to stage II palliation were included with data obtained at the time of their initial hospital discharge. Ventricular function was quantified using 2D global longitudinal strain (GLS) and strain rate, analyzed from …

Treatment Anxiety Education For Pediatric Cardiac Neurodevelopmental Patients, An Evidence Based Project, Mary Nagel

Doctor of Nursing Practice Final Manuscripts

Abstract

Background

Congenital heart disease (CHD) is the most common birth defect and affects almost 1% of all live births. Treatment anxiety is common among children with CHD who undergo multiple procedures early in their lifetime. Dramatically increased life spans for this cardiac population has led to a shift from focusing on survival to their long-term health outcomes.

Methods:

Administration of the Peds QL Cardiac Module 3.0 assesses health related quality of life (HRQOL) during annual visits to a Cardiac Neurodevelopmental (ND) Clinic by evaluating the level of Treatment Anxiety a patient experiences during healthcare appointments. The questionnaire scores are …

Providing High Reliability Care For Picu Patients With Pulmonary Hypertension: A Quality Improvement Project, Anjali Subbaswamy, Nicholas Tan, Iric Guthrie, Kelsey Fath, Cole Linzmeyer, Elizabeth Yakes Jimenez

Quality Improvement/Patient Safety Symposium

Providing High Reliability Care for PICU Patients with Pulmonary Hypertension: A Quality Improvement Project

Anjali Subbaswamy, MD; Nicholas Tan, DO; Iric Guthrie, MD; Kelsey Fath, MD; Cole Linzmeyer, DO; Elizabeth Yakes Jimenez, PhD, RDN, LD

Purpose: Pediatric patients with pulmonary hypertension (PHTN) are a high acuity, low frequency population, and are often admitted to the pediatric intensive care unit (PICU). To mitigate the risk of precipitating a potentially life-threatening pulmonary hypertensive crisis, health care staff need to take specific precautions. This quality improvement (QI) project aims to increase the number of inpatient PHTN patients for whom PHTN precautions are applied …

Neonatal Arch Obstruction: Not Always A Coarctation, Karoline Krzywda

Research Days

Background: Spontaneous neonatal arch thrombosis is a rare, highly lethal cause of aortic arch obstruction.

Case: A 1-day-old male infant presented failing CCHD screen, on prostaglandin infusion for echocardiographic concerns of aortic coarctation. Repeat echocardiogram revealed severe arch obstruction due to a large, 7.5x5mm echogenic mass, at the aortic isthmus (Fig1A) with right to left systolic PDA flow. CT angiography confirmed presence of a large aortic arch thrombus (Fig1B). Bivalirudin infusion was initiated without change in thrombus size after 2 days. Tissue plasminogen activator (tPA) was subsequently administered with significant reduction in thrombus size to 3x4mm (Fig1C) on day 1 …

Atrial Standstill In A Pediatric Patient With Scn5a Mutation Following Procainamide Challenge, Anmol Goyal

Research Days

Background: Atrial standstill (AS) is a rare arrhythmia characterized by absence of electrical and mechanical atrial activity associated with SCN5A channelopathy.

Case: An 18 year old male with structurally normal heart, frequent sinus pauses, nonsustained atrial tachycardia and high-grade block was found to have SCN5A mutation c.3823G>A (p.Asp1275Asn). An electrophysiology study (EPS) with high density voltage mapping of the right atrium was done (Fig 1a). Nonsustained multifocal atrial tachycardia was induced without ablative targets (Fib 1b). Procainamide challenge was negative for Brugada, however induced AS (Fig 1c-d). No atrial capture could be achieved at maximal output. Empiric atrial lead …

Pediatric Pulmonary Artery Aneurysms Causing Pulmonary Hemorrhage: A Case Of Transcatheter Intervention While On Va Ecmo Support, Igor Areinamo

Research Days

Background: The incidence of pulmonary artery aneurysm (PAA) in children remains unknown. There are few reports of a transcutaneous interventional approach to address this type of pathology. Management of PAAs while on VA ECMO has not been described in pediatrics.

Objectives/Goal:

Methods/Design:

Case: 9-year-old previously healthy male presented with MRSA associated ARDS and sepsis requiring urgent VA ECMO cannulation. Chest CT done on ECMO day 22 showed development of right sided PAAs. Patient had an episode of significant pulmonary hemorrhage. Angiogram demonstrated two fusiform right PAAs, one of which had ruptured and was bleeding into the lung parenchyma. Patient had …

Online Echocardiography Modules For Pediatric Cardiology Fellows, Sarah Studyvin, Doaa Aly, Tyler Johnson, Laura Kuzava, Alison Samrany, Nitin Madan, Sanket Shah

Research Days

Background: Adequate echocardiographic (echo) education is integral to successful cardiology training. Online education is proven to be effective in other specialties, but pediatric echo training data are lacking.

Objectives/Goal: Our aim was to design and assess the role of a novel online module-based curriculum to enhance pediatric cardiology fellows’ echo education.

Methods/Design: Four interactive modules, focused on principles and interpretation of a normal echo, were delivered to fellows. Content included high quality 2D and 3D echo clips as well as interactive quizzes and could be accessed from a phone, tablet, or computer. All fellows completed pre- and post-tests, validated by …

Constrictive Pericarditis After Repair Of A Ruptured Sinus Of Valsalva, Sarah Studyvin, Laura Kuzava

Research Days

Background: Constrictive pericarditis is an uncommon complication of cardiac surgery. We report a patient who developed constrictive pericarditis after ruptured sinus of Valsalva (RSOV) repair.

Methods: A 23-year-old male presented with exertional dyspnea one year after RSOV repair. TTE showed a small, circumferential effusion with thickened pericardium, ventricular septal bounce, left atrial enlargement, diastolic hepatic flow reversal, and trivial mitral regurgitation without stenosis. He underwent cardiac catheterization, which revealed elevated filling pressures (RVEDP 16 mmHg, LVEDP 18 mmHg), RVEDP/RVSP ratio < 0.5, and a low cardiac index (1.65 L/min/m2). Cardiac MRI confirmed pericardial thickening with paradoxic septal motion, dilated pulmonary veins and retrograde flow in the SVC.

Results: Pericardiectomy of thickened and adherent pericardium was performed. The central venous pressure decreased from 23 to 7 mmHg and …

Prenatal Diagnosis Of An Uncommon Form Of A Hypoplastic Left Heart Syndrome Variant., Anmol Goyal

Research Days

Background: Mitral valve dysplasia syndrome (MVDS) is a rare form of congenital heart disease, similar to hypoplastic left heart syndrome (HLHS). Prenatal identification is important for counseling, delivery planning and postnatal management.

Case: A 39 year-old woman underwent fetal echocardiography at ~34 weeks gestation for evaluation of fetal cardiomegaly and hydrops revealing: biatrial enlargement, mild-to-moderate mitral and tricuspid valve insufficiency, echobright mitral valve apparatus, biventricular dilation, severe LV fibroelastosis (EFE) and systolic dysfunction, mild hypoplasia of aortic valve annulus and aortic arch, and a thick restrictive atrial septum (RAS) with left to right flow (Fig 1a-c).

Decision‐making: Although critical aortic …

Standardized Point-Of-Care Ultrasound (Pocus) Set-Up For Cardiac Evaluation During Covid-19 Pandemic In A Pediatric Population., Anmol Goyal

Research Days

Background: The novel coronavirus SARS-CoV2 is known to cause significant cardiac dysfunction, effusion, thromboembolism and coronary dilation. Currently no pediatric specific guidelines exist from ACC or ASE for use of POCUS. Our objective was to identify ideal pediatric appropriate POCUS equipment and standardize its use.

Methods: A Phillips Lumify probe paired with Android-Samsung tablet and a Butterfly iQ probe paired with an iPad were considered. A workflow algorithm and cleaning instructions were created. If the POCUS scan answered the clinical question, then a detailed echo was deferred. If the POCUS scan revealed findings requiring comprehensive evaluation, a follow-up echo was …

Tricuspid Atresia With Totally Anomalous Pulmonary Venous Connection: An Uncommon Finding, Anmol Goyal

Research Days

Background: Tricuspid atresia comprises 3-4% of all congenital heart disease (CHD). Anatomic findings are no true connection between the right atrium (RA) and right ventricle (RV) with concomitant findings of a ventricular septal defect (VSD), right ventricular hypoplasia, abnormalities of right ventricular outflow tract, pulmonary valve and pulmonary arteries. Common associated lesions have been described including transposition of great vessels, hypoplasia of aortic arch, double outlet ventricle or a common arterial trunk. Total anomalous pulmonary venous connection (TAPVC) is relatively rare and we present a case in addition to the six previously described cases in literature.

Case: A 33-year-old woman …

Early Systolic Dysfunction And Impact Of Gene Mutation Severity In Marfan Syndrome, Aaron Clem, Lois J. Starr, David Danford, Mary Craft, Ling Li, Jason Christensen, Anji Yetman

Child Health Research Institute Pediatric Research Forum

Background

Marfan syndrome is caused by a mutation in the fibrillin-1 gene that manifests with a variety of features including aortic root dilation. Recent research has identified a primary cardiomyopathy in patients with Marfan syndrome, hypothesized to be due to the presence of abnormal fibrillin-1 in the myocardium. Controversy over the nature and significance of this cardiomyopathy remains. Echocardiographic measurement of the first-phase of ejection (defined as the beginning of systole to peak aortic valve flow) may be more sensitive to systolic dysfunction and provide useful clinical information. The purpose of this study is to:

1. Assess systolic dysfunction in patients …

Congenital Mitral Valve Regurgitation, The Dilemma Of Repair Versus Replacement, Bianca Cherestal, Doaa Aly

Posters

Background: Congenital mitral regurgitation is a rare condition and can be challenging to manage when presenting in the neonatal period.

Case: Two week old male presented with poor weight gain, murmur and cardiomegaly on chest X-ray. Echocardiogram showed moderate to severe mitral regurgitation (MR) and suprasystemic pulmonary hypertension (PHN) (fig 1 a, b). The mitral valve (MV) leaflets were thickened and tethered with failure of central coaptation. PHN was classified as WHO I and II (due to persistent PHN of newborn and MR respectively). Inhaled nitric oxide, Enalapril and Furosemide were initiated. Cardiac catheterization revealed PVRi of 8.9 WU x …

Performance And Determinants Of Serum Creatinine And Cystatin C-Based Gfr Estimating Equations In South Asians, Yeli Wang, Andrew S. Levey, Lesley A. Inker, Saleem Jessani, Rasool Bux, Zainab Samad, Ali Raza Khan, Amy B. Karger, John C. Allen, Tazeen H. Jafar

Community Health Sciences

Introduction: The creatinine-based Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) estimated glomerular filtration rate (eGFR) equation was calibrated for the general Pakistan population (eGFRcr-PK) to eliminate bias and improve accuracy. Cystatin C-based CKD-EPI equations (eGFRcys and eGFRcr-cys) have not been assessed in this population, and non-GFR determinants of cystatin C are unknown.
Methods: We assessed eGFRcys, eGFRcr-cys, and non-GFR determinants of cystatin C in a cross-sectional study of 557 participants (≥40 years of age) from Pakistan. We compared bias (median difference in measured GFR [mGFR] and eGFR), precision (interquartile range [IQR] of differences), accuracy (percentage of eGFR within 30% of mGFR), …

Tbx5-Encoded T-Box Transcription Factor 5 Variant T223m Is Associated With Long Qt Syndrome And Pediatric Sudden Cardiac Death, Alexandra M Markunas, Perathu K R Manivannan, Jordan E Ezekian, Agnim Agarwal, William Eisner, Katherina Alsina, Hugh D Allen, Gregory A Wray, Jeffrey J Kim, Xander H T Wehrens, Andrew P Landstrom

Faculty, Staff and Students Publications

Long QT syndrome (LQTS) is a genetic disease resulting in a prolonged QT interval on a resting electrocardiogram, predisposing affected individuals to polymorphic ventricular tachycardia and sudden death. Although a number of genes have been implicated in this disease, nearly one in four individuals exhibiting the LQTS phenotype are genotype-negative. Whole-exome sequencing identified a missense T223M variant in TBX5 that cosegregates with prolonged QT interval in a family with otherwise genotype-negative LQTS and sudden death. The TBX5-T223M variant was absent among large ostensibly healthy populations (gnomAD) and predicted to be pathogenic by in silico modeling based on Panther, PolyPhen-2, Provean, …

Accuracy Of Procalcitonin Levels For Diagnosis Of Culture-Positive Sepsis In Critically Ill Trauma Patients: A Retrospective Analysis, Aisha Bakhtiar, Syed Jawad Haider Kazmi, Muhammad Sohaib Asghar, Muhammad Nadeem Khurshaidi, Salman Mazhar, Noman A. Khan, Nisar Ahmed, Farah Yasmin, Rabail Yaseen, Maira Hassan

Section of Cardiothoracic Surgery

Background: Abdominal trauma and intra-abdominal sepsis are associated with significant morbidity and mortality. Microcirculation in the gut is disrupted in hemorrhagic and septic shock leading to tissue hypoxia, and the damaged gut acts as a reservoir rich in inflammatory mediators and provides a continual source of inflammation to the systemic circulation leading to sepsis. Sepsis is defined as the presence (probable or documented) of infection together with a systemic inflammatory response to infection. Blood culture is commonly considered to be the preferred approach for diagnosing sepsis, although it is time-consuming, that is, reports are normally available only after 12-48 hours. …

Shear Stress Associated With Cardiopulmonary Bypass Induces Expression Of Inflammatory Cytokines And Necroptosis In Monocytes., Lan N. Tu, Lance Hsieh, Masaki Kajimoto, Kevin Charette, Nataliya Kibiryeva, Adriana Forero, Sarah Hampson, Jennifer A. Marshall, James O'Brien, Marta Scatena, Michael A. Portman, Ram Savan, Chris Benner, Alberto Aliseda, Muhammad Nuri, Douglas Bittel, Peter Pastuzsko, Vishal Nigam

Manuscripts, Articles, Book Chapters and Other Papers

Cardiopulmonary bypass (CPB) is required during most cardiac surgeries. CBP drives systemic inflammation and multiorgan dysfunction that is especially severe in neonatal patients. Limited understanding of molecular mechanisms underlying CPB-associated inflammation presents a significant barrier to improve clinical outcomes. To better understand these clinical issues, we performed mRNA sequencing on total circulating leukocytes from neonatal patients undergoing CPB. Our data identify myeloid cells, particularly monocytes, as the major cell type driving transcriptional responses to CPB. Furthermore, IL-8 and TNF-α were inflammatory cytokines robustly upregulated in leukocytes from both patients and piglets exposed to CPB. To delineate the molecular mechanism, we …

Can Erythropoietin Reduce Hypoxemic Neurological Damages In Neonates With Congenital Heart Defects?, Sara Ottolenghi, Giuseppina Milano, Michele Dei Cas, Tina O Findley, Rita Paroni, Antonio F Corno

Faculty, Staff and Student Publications

Congenital heart defects (CHD), the most common cause of birth defects with increasing birth prevalence, affect nearly 1% of live births worldwide. Cyanotic CHD are characterized by hypoxemia, with subsequent reduced oxygen delivery to the brain, especially critical during brain development, beginning in the fetus and continuing through the neonatal period. Therefore, neonates with CHD carry a high risk for neurological comorbidities, even more frequently when there are associated underlying genetic disorders. We review the currently available knowledge on potential prevention strategies to reduce brain damage induced by hypoxemia during fetal development and immediately after birth, and the role of …

Cardio-Pulmonary Sequelae In Recovered Covid-19 Patients: Considerations For Primary Care, Zouina Sarfraz, Azza Sarfraz, Alanna Barrios, Radhika Garimella, Asimina Dominari, Manish Kc, Krunal Pandav, Juan C. Pantoja, Varadha Retnakumar, Ivan Cherrez-Ojeda

Department of Paediatrics and Child Health

Background: Current literature lacks characterization of the post-recovery sequelae among COVID-19 patients. This review characterizes the course of clinical, laboratory, radiological findings during the primary infection period, and the complications post-recovery. Primary care findings are presented for long-COVID care.
Methods: Adhering to PRISMA guidelines, 4 databases were searched (PubMed, Embase, CINAHL Plus, Scopus) through December 5, 2020, using the keywords "COVID-19 and/or recovered and/or cardiovascular and/or long-term and/or sequelae and/or sub-acute and/or complication." We included published peer-reviewed case reports, case series, and cross-sectional studies providing the clinical course of COVID-19 infection, and cardiopulmonary complications of patients who recovered from COVID-19, …

Simulator-Based Ultrasound Training For Identification Of Endotracheal Tube Placement In A Neonatal Intensive Care Unit Using Point Of Care Ultrasound, Khushboo Qaim Ali, Sajid Bashir Soofi, Ali Shabbir Hussain, Uzair Ansari, Shaun Morris, Mark Oliver Tessaro, Shabina Ariff, Hasan Merali

Department of Paediatrics and Child Health

Background: Simulators are an extensively utilized teaching tool in clinical settings. Simulation enables learners to practice and improve their skills in a safe and controlled environment before using these skills on patients. We evaluated the effect of a training session utilizing a novel intubation ultrasound simulator on the accuracy of provider detection of tracheal versus esophageal neonatal endotracheal tube (ETT) placement using point-of-care ultrasound (POCUS). We also investigated whether the time to POCUS image interpretation decreased with repeated simulator attempts.
Methods: Sixty neonatal health care providers participated in a three-hour simulator-based training session in the neonatal intensive care unit (NICU) …

Management Of Multisystem Inflammatory Syndrome In Children Associated With Covid-19: A Survey From The International Kawasaki Disease Registry., Matthew D. Elias, Brian W. Mccrindle, Guillermo Larios, Nadine F. Choueiter, Nagib Dahdah, Ashraf S. Harahsheh, Supriya Jain, Cedric Manlhiot, Michael A. Portman, Geetha Raghuveer, Therese M. Giglia, Audrey Dionne, International Kawasaki Disease Registry

Manuscripts, Articles, Book Chapters and Other Papers

Background: Since April 2020, there have been numerous reports of children presenting with systemic inflammation, often in critical condition, and with evidence of recent infection of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). This condition, since defined as the multisystem inflammatory syndrome in children (MIS-C), is assumed to be a delayed immune response to coronavirus disease 2019 (COVID-19), and there are frequently cardiac manifestations of ventricular dysfunction and/or coronary artery dilation.

Methods: We surveyed the inpatient MIS-C management approaches of the members of the International Kawasaki Disease Registry across 38 institutions and 11 countries.

Results: Among the respondents, 56% reported …

Early Impact Of The Covid-19 Pandemic On Congenital Heart Surgery Programs Across The World: Assessment By A Global Multi-Societal Consortium., Eleftherios M. Protopapas, Mauro Lo Rito, Vladimiro L. Vida, George E. Sarris, Christo I. Tchervenkov, Bohdan J. Maruszewski, Zdzislaw Tobota, Bistra Zheleva, Hao Zhang, Jeffery P. Jacobs, Joseph A. Dearani, Elizabeth H. Stephens, James S. Tweddell, Nestor F. Sandoval, Emile A. Bacha, Erle H. Austin, Kisaburo Sakamoto, Sachin Talwar, Hiromi Kurosawa, Zohair Y Al Halees, Marcello B. Jatene, Krishna S. Iyer, Cheul Lee, Rajesh Sharma, Yasutaka Hirata, Frank Edwin, Jorge L. Cervantes, James O'Brien, James D. St Louis, James K. Kirklin, Covid-19 International Congenital Heart Surgery Taskforce

Manuscripts, Articles, Book Chapters and Other Papers

The coronavirus disease 2019 (COVID-19) pandemic currently gripping the globe is impacting the entire health care system with rapidly escalating morbidities and mortality. Although the infectious risk to the pediatric population appears low, the effects on children with congenital heart disease (CHD) remain poorly understood. The closure of congenital heart surgery programs worldwide to address the growing number of infected individuals could have an unintended impact on future health for COVID-19-negative patients with CHD. Pediatric and congenital heart surgeons, given their small numbers and close relationships, are uniquely positioned to collectively assess the impact of the pandemic on surgical practice …

Identifying Genetic Factors That Contribute To The Increased Risk Of Congenital Heart Defects In Infants With Down Syndrome., Cristina E. Trevino, Aaron M. Holleman, Holly Corbitt, Cheryl L. Maslen, Tracie C. Rosser, David J. Cutler, H Richard Johnston, Benjamin L. Rambo-Martin, Jai Oberoi, Kenneth J. Dooley, George T. Capone, Roger H. Reeves, Heather J. Cordell, Bernard D. Keavney, A J Agopian, Elizabeth Goldmuntz, Peter J. Gruber, James O'Brien, Douglas C. Bittel, Lalita Wadhwa, Clifford L. Cua, Jennifer G. Mulle, Michael P. Epstein, Stephanie L. Sherman, Michael E. Zwick

Manuscripts, Articles, Book Chapters and Other Papers

Atrioventricular septal defects (AVSD) are a severe congenital heart defect present in individuals with Down syndrome (DS) at a > 2000-fold increased prevalence compared to the general population. This study aimed to identify risk-associated genes and pathways and to examine a potential polygenic contribution to AVSD in DS. We analyzed a total cohort of 702 individuals with DS with or without AVSD, with genomic data from whole exome sequencing, whole genome sequencing, and/or array-based imputation. We utilized sequence kernel association testing and polygenic risk score (PRS) methods to examine rare and common variants. Our findings suggest that the Notch pathway, particularly …