Early Infantile Diagnosis of Hereditary Hemorrhagic Telangiectasia Complicated by Child Abuse.

We report a rare case of hereditary hemorrhagic telangiectasia (HHT) in a 4-month-old female infant with findings of child abuse. She presented with poor feeding, vomiting, and irritability after a short fall from the bed. Initial evaluation found subdural hematomas, persistent hypoxia, failure to thrive, a frenulum tear, facial lacerations, and bruising. The patient was admitted, and an extensive workup led to the diagnosis of brain and pulmonary arteriovenous malformations and finally the diagnosis of HHT. The subdural hematomas, cutaneous injuries, and oral injury were highly suspicious for child abuse and were reported to Child Protective Services and law enforcement for investigation simultaneous to the medical work-up. Her hospital course was complicated by progressive hypoxemia with radiographic evidence of several large pulmonary arteriovenous malformations, for which she underwent successful embolization. Her head injury was indeterminate for physical abuse in the setting of a medical condition predisposing to intracranial hemorrhage. A few weeks later, she was readmitted with repeat abusive injuries in the form of femur fractures. This case demonstrates the unique diagnostic dilemma when 2 diagnoses are occurring simultaneously-HHT and child abuse-and showcases the importance of a detailed family history, genetic testing, strong multidisciplinary collaboration with a holistic approach and medically informed Child Protective Services systems to ensure accurate diagnoses and safe disposition.

Fibrosing Mediastinitis Caused by Histoplasmosis in an Adolescent.

Fibrosing mediastinitis (FM) is a rare, potentially progressive disease resulting from an idiosyncratic immune response to a variety of stimuli that lead to fibrous infiltration of the mediastinum and possible narrowing of the bronchovascular structures. We report an unusual case of FM in a pediatric patient presenting as myopericarditis and progressing to pericardial thickening and encasement of the mediastinal vascular structures needing surgical intervention. Imaging, including transthoracic echocardiography, cardiac computed tomography, and cardiac magnetic resonance played a crucial role in the diagnosis, assessment, and follow-up. Contrast-enhanced computed tomography can be especially helpful to demonstrate potential findings associated with FM.

Society for Cardiovascular Magnetic Resonance 2022 Cases of SCMR case series.

"Cases of SCMR" is a case series on the SCMR website (https://www.scmr.org) for the purpose of education. The cases reflect the clinical presentation, and the use of cardiovascular magnetic resonance (CMR) in the diagnosis and management of cardiovascular disease. The 2022 digital collection of cases are presented in this manuscript.

Fetal echocardiographic features associated with bicuspid aortic valve.

BACKGROUND: Prenatal diagnosis of bicuspid aortic valve is challenging. Bicuspid aortic valve is often associated with aortic dilation. METHODS: Fetuses with postnatally confirmed bicuspid aortic valve were gestational age-matched with normal controls. Complex lesions were excluded. Aortic valve and arch measurements by two blinded investigators were compared. RESULTS: We identified 27 cases and 27 controls. Estimated fetal weight percentile was lower in cases than controls. Seven cases had one or more significant lesions including perimembranous ventricular septal defects (n = 2), isolated annular hypoplasia (n = 2), and/or arch hypoplasia/coarctation (n = 4). Fetuses with bicuspid aortic valves had significantly smaller median z-scores of the aortic annulus (-1.60 versus -0.53, p < 0.001) and root (-1.10 versus -0.53, p = 0.040), and larger ratios of root to annulus (1.32 versus 1.21, p < 0.001), sinotubular junction to annulus (1.07 versus 0.99, p < 0.001), ascending aorta to annulus (1.29 versus 1.18, p < 0.001), and transverse aorta to annulus (1.04 versus 0.96, p = 0.023). Leaflets were "doming" in 11 cases (41%) and 0 controls (p = 0.010), "thickened" in 10 cases (37%) and 0 controls (p = 0.002). We noted similar findings in the subgroup without significant additional cardiac defects. CONCLUSIONS: The appearance of doming or thickened aortic valve leaflets on fetal echocardiogram is associated with bicuspid aortic valve. Compared to controls, fetuses with bicuspid aortic valve had smaller aortic annulus sizes (possibly related to smaller fetal size) without proportionally smaller aortic measurements, resulting in larger aortic dimension to annulus ratios. Despite inherent challenges of diagnosing bicuspid aortic valve prenatally, these findings may increase suspicion and prompt appropriate postnatal follow-up.

Tolerability and efficacy of a reduced dose adenosine stress cardiac magnetic resonance protocol under general anesthesia in infants and children.

BACKGROUND: Intravenous adenosine induces pharmacological stress by causing vasodilatation and thus carries the risk of severe hypotension when combined with vasodilatory effects of anesthetic agents. OBJECTIVE: This study describes our experience with a reduced dose adenosine cardiac magnetic resonance imaging (MRI) protocol in young children under general anesthesia (GA). MATERIALS AND METHODS: This is a retrospective report of all patients from birth to 18 years who underwent adenosine stress cardiac MRI under GA between August 2018 and November 2022. Based on our anecdotal experience of severe adverse effects in patients receiving adenosine infusion under GA and in discussion with the pediatric anesthesia team, we developed a modified protocol starting at a dose of 110 mcg/kg/min with incremental escalation to a full dose of 140 mcg/kg/min to achieve desired hemodynamic effect. RESULTS: Twenty-two children (mean age 6.5 years, mean weight 28 kg) satisfied the inclusion criteria. The diagnoses included Kawasaki disease (7), anomalous aortic origin of left coronary artery (3), anomalous aortic origin of right coronary artery (2), coronary fistula (3), repaired d-transposition of great arteries (2), repaired anomalous left coronary artery from pulmonary artery (2), repaired truncus arteriosus with left coronary artery occlusion (1), extracardiac-Fontan with left coronary artery myocardial bridge (1), and post heart transplantation (1). Nine patients needed dose escalation beyond 110 mcg/kg/min. Two patients had transient hypotension during testing (systemic blood pressure drop > 25 mmHg). No patient developed significant heart block or bronchospasm. Six patients (repeat study in one) demonstrated inducible perfusion defects (27%) on stress perfusion sequences-5 of whom had confirmed significant coronary abnormalities on angiography or direct surgical inspection. CONCLUSION: A reduced/incremental dose adenosine stress cardiac MRI protocol under GA in children is safe and feasible. This avoids severe hypotension which is both unsafe and may result in inaccurate data.

Value of Time-Resolved Cardiac CT in Children and Young Adults with Congenital Heart Disease and Infective Endocarditis.

BACKGROUND: Diagnosis of infective endocarditis (IE) can be challenging due to negative blood cultures and diagnostic limitations of various imaging modalities. Transesophageal echocardiography (TEE) is the gold standard imaging modality for visualization of valvular vegetations. However, due to the anterior location of the pulmonary valve, post-surgical changes, and sedation requirement, TEE can be challenging in the pediatric population. The aim of this study was to assess the value of Cardiac CT (CCT) for diagnosis of IE in children and young adults with congenital heart disease (CHD). METHODS: This is a single-center retrospective study of pediatric patients with CHD and diagnosis of IE who underwent CCT from 2018 to 2022. Data collected included age, gender, cardiac diagnosis, clinical presentation, echocardiographic/CCT findings, and blood culture results. In addition, modified Duke criteria (MDC) for the diagnosis of IE were applied with and without CCT findings as the diagnostic imaging criterion. RESULTS: Fourteen patients were included in this study with a median age of 11 years old. Nine patients were female. Ten patients had IE of the RV-PA conduit and four patients had IE of the aortic valve. Using MDC, 4 patients had definite IE. After including CCT findings, 11 patients (79%) met MDC for definite IE. Blood cultures were positive in 12 patients. CCT revealed the following complications: thromboembolic findings/pseudoaneurysms in 5 patients each and prosthetic valve perforation/prosthetic valve leak in one patient each. CONCLUSIONS: This study reinforces the complimentary role of CCT to echocardiography in the work-up and diagnosis of IE in patients with CHD. With further improvement in lowering radiation exposure, CCT may have a key role in the diagnostic work-up of endocarditis and could be implemented in the diagnostic criteria of IE.

Multisystem inflammatory syndrome in children and Kawasaki disease: a critical comparison.

Children and adolescents infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are predominantly asymptomatic or have mild symptoms compared with the more severe coronavirus disease 2019 (COVID-19) described in adults. However, SARS-CoV-2 is also associated with a widely reported but poorly understood paediatric systemic vasculitis. This multisystem inflammatory syndrome in children (MIS-C) has features that overlap with myocarditis, toxic-shock syndrome and Kawasaki disease. Current evidence indicates that MIS-C is the result of an exaggerated innate and adaptive immune response, characterized by a cytokine storm, and that it is triggered by prior SARS-CoV-2 exposure. Epidemiological, clinical and immunological differences classify MIS-C as being distinct from Kawasaki disease. Differences include the age range, and the geographical and ethnic distribution of patients. MIS-C is associated with prominent gastrointestinal and cardiovascular system involvement, admission to intensive care unit, neutrophilia, lymphopenia, high levels of IFNγ and low counts of naive CD4+ T cells, with a high proportion of activated memory T cells. Further investigation of MIS-C will continue to enhance our understanding of similar conditions associated with a cytokine storm.

Unraveling the mechanisms of IVIG immunotherapy in MIS-C.

In The Journal of Clinical Investigation, Zhu et al.1 report that intravenous immunoglobulin (IVIG) targets IL-1ß+ neutrophils to exert anti-inflammatory effects in multisystem inflammatory syndrome in children (MIS-C), a post-infectious inflammatory condition associated with COVID-19.

Neurodevelopmental outcomes in congenital heart disease through the lens of single ventricle patients.

PURPOSE OF REVIEW: This review aims to summarize and organize the current body of literature on this contemporary topic, alongside a more general discussion of neurodevelopmental complications of congenital heart disease. RECENT FINDINGS: It is theorized that the causes of the neurodevelopment disabilities are multifactorial resulting from structural central nervous system abnormalities, haemodynamic alterations and/or biochemical changes. It is therefore imperative that all patients with single ventricle anatomy and physiology receive long-term neurologic and developmental assessments in addition to their cardiac monitoring. SUMMARY: Advancements in surgical techniques and medical management have improved survivorship of these medically complex patients. Neurodevelopmental sequelae are one of the most common comorbidities affecting this patient population leading to long-term challenges in motor, language, social and cognitive skills.

Six Month Follow-up of Patients With Multi-System Inflammatory Syndrome in Children.

BACKGROUND AND OBJECTIVES: Myocardial dysfunction and coronary abnormalities are prominent features of multisystem inflammatory syndrome in children (MIS-C). In this study we aim to evaluate the early and midterm outcomes of MIS-C. METHODS: This is a longitudinal 6-month cohort study of all children admitted and treated for MIS-C from April 17 to June 20, 2020. Patients were followed ∼2 weeks, 8 weeks, and 6 months postadmission, with those with coronary aneurysms evaluated more frequently. RESULTS: Acutely, 31 (62%) patients required intensive care with vasoactive support, 26 (52%) had left ventricular (LV) systolic dysfunction, 16 (32%) had LV diastolic dysfunction, 8 (16%) had coronary aneurysms (z score ≥2.5), and 4 (8%) had coronary dilation (z score <2.5). A total of 48 patients (96%) received immunomodulatory treatment. At 2 weeks, there was persistent mild LV systolic dysfunction in 1 patient, coronary aneurysms in 2, and dilated coronary artery in 1. By 8 weeks through 6 months, all patients returned to functional baseline with normal LV systolic function and resolution of coronary abnormalities. Cardiac MRI performed during recovery in select patients revealed no myocardial edema or fibrosis. Some patients demonstrated persistent diastolic dysfunction at 2 weeks (5, 11%), 8 weeks (4, 9%), and 6 months (1, 4%). CONCLUSIONS: Children with MIS-C treated with immunomodulators have favorable early outcomes with no mortality, normalization of LV systolic function, recovery of coronary abnormalities, and no inflammation or scarring on cardiac MRI. Persistence of diastolic dysfunction is of uncertain significance and indicates need for larger studies to improve understanding of MIS-C. These findings may help guide clinical management, outpatient monitoring, and considerations for sports clearance.

Society for Cardiovascular Magnetic Resonance 2019 Case of the Week series.

The Society for Cardiovascular Magnetic Resonance (SCMR) is an international society focused on the research, education, and clinical application of cardiovascular magnetic resonance (CMR). The SCMR web site ( https://www.scmr.org ) hosts a case series designed to present case reports demonstrating the unique attributes of CMR in the diagnosis or management of cardiovascular disease. Each clinical presentation is followed by a brief discussion of the disease and unique role of CMR in disease diagnosis or management guidance. By nature, some of these are somewhat esoteric, but all are instructive. In this publication, we provide a digital archive of the 2019 Case of the Week series as a means of further enhancing the education of those interested in CMR and as a means of more readily identifying these cases using a PubMed or similar search engine.

Cardiac complications of malnutrition in adolescent patients: A narrative review of contemporary literature.

Eating disorders are common. Between 1% and 2% of adolescent females and 0.5% of males suffer from anorexia nervosa, bulimia nervosa, and binge eating disorder. Although suicide represents nearly half of the mortality in patients with eating disorders, a majority of the remainder is cardiac arrest, likely secondary to cardiovascular complications of eating disorders such as bradycardia, hypotension, QT interval changes, structural heart disease, and pericardial effusion. Bradycardia is suspected to be secondary to increased vagal tone and is a common finding in patients admitted with disordered eating. Similarly, hypotension and orthostatic abnormalities are common complications due to atrophy of peripheral muscles. Descriptive studies report prolongation of the corrected QT interval (QTc) in these patients relative to controls, albeit within the normal reference range. Structural heart disease is also common, with left ventricular mass reported as lower than predicted in several studies compared to healthy controls. Pericardial effusion is also commonly described, although it is possible that this is underestimated, as not all patients with eating disorders undergo echocardiograms. Further, refeeding syndrome as a result of treatment of eating disorders carries its own cardiac risks. Cardiac complications of malnutrition are common but reversible with appropriate management and recovery. It is imperative that providers are aware of the epidemiology of these complications, as it is only with a high clinical suspicion that proper evaluation including a thorough history and physical examination, electrocardiogram, and when necessary echocardiogram can be performed.

Tetralogy of Fallot With Pulmonary Atresia: Anatomy, Physiology, Imaging, and Perioperative Management.

Tetralogy of Fallot (ToF) with pulmonary atresia (ToF-PA) is a complex congenital heart defect at the extreme end of the spectrum of ToF, with no antegrade flow into the pulmonary arteries. Patients differ with regard to the sources of pulmonary blood flow. In the milder spectrum of disease, there are confluent branch pulmonary arteries fed by ductus arteriosus. In more severe cases, however, the ductus arteriosus is absent, and the sole source of pulmonary blood flow is via major aortopulmonary collateral arteries (MAPCAs). The variability in the origin, size, number, and clinical course of these MAPCAs adds to the complexity of these patients. Currently, the goal of management is to establish pulmonary blood flow from the right ventricle (RV) with RV pressures that are ideally less than half of the systemic pressure to allow for closure of the ventricular septal defect. In the long term, patients with ToF-PA are at higher risk for reinterventions to address pulmonary arterial or RV-pulmonary artery conduit stenosis, progressive aortic root dilation and aortic insufficiency, and late mortality than those with less severe forms of ToF.

Didactic education in paediatric cardiology during the COVID-19 pandemic: a national fellow survey.

The coronavirus disease 2019 (COVID-19) pandemic has had a profound impact on medical educational curricula. We aimed to examine the impact of these unprecedented changes on the formal education of paediatric cardiology fellows through a nationwide survey. A REDCap™-based voluntary anonymous survey was sent to all current paediatric cardiology fellows in the United States of America in May, 2020. Of 143 respondents, 121 were categorical fellows, representing over one-fourth of all categorical paediatric cardiology fellows in the United States of America. Nearly all (140/143, 97.9%) respondents utilised online learning during the pandemic, with 134 (93.7%) reporting an increase in use compared to pre-pandemic. The percentage of respondents reporting curriculum supplementation with outside lectures increased from 11.9 to 88.8% during the pandemic. Respondents considered online learning to be "equally or more effective" than in-person lectures in convenience (133/142, 93.7%), improving fellow attendance (132/142, 93.0%), improving non-fellow attendance (126/143, 88.1%), and meeting individual learning needs (101/143, 70.6%). The pandemic positively affected the lecture curriculum of 83 respondents (58.0%), with 35 (24.5%) reporting no change and 25 (17.5%) reporting a negative effect. A positive effect was most noted by those whose programmes utilised supplemental outside lectures (62.2 versus 25.0%, p = 0.004) and those whose lecture frequency did not decrease (65.1 versus 5.9%, p < 0.001). Restrictions imposed by the COVID-19 pandemic have greatly increased utilisation of online learning platforms by medical training programmes. This survey reveals that an online lecture curriculum, despite inherent obstacles, offers advantages that may mitigate some negative consequences of the pandemic on fellowship education.

Incidence of arrhythmias and electrocardiographic abnormalities in symptomatic pediatric patients with PCR-positive SARS-CoV-2 infection, including drug-induced changes in the corrected QT interval.

BACKGROUND: There is limited data regarding the electrophysiological abnormalities and arrhythmias in children with COVID-19, including those associated with treatment using potentially proarrhythmic hydroxychloroquine (HCQ) and azithromycin (AZN). OBJECTIVES: To describe the electrophysiologic findings and arrhythmias associated with pediatric COVID-19 and its treatment. METHODS: A single-center retrospective chart review was undertaken and included all patients with (1) symptoms of COVID-19 and (2) PCR-positive nasopharyngeal swabs for SARS-CoV-2 who were placed on continuous telemetry for the duration of their hospitalization during March through May, 2020. RESULTS: Thirty-six patients were included in the study. Significant arrhythmias were found in 6 (nonsustained ventricular tachycardia in 5 and sustained atrial tachycardia in 1). All were self-resolving and half prompted prophylactic antiarrhythmic therapy. Patients with significant arrhythmias were likely to have noncardiac comorbidities (4/6), but these were not more common than in patients without arrhythmias (20/30, P = 1). The use of HCQ was associated with statistically significant QTc prolongation (413 ± 19 ms vs 425 ± 16 ms, P =.005). QTc was not statistically different in patients with and without arrhythmias (425 ± 15 ms vs 425 ± 15 ms, P = 1). CONCLUSIONS: In pediatric patients with PCR-positive active COVID-19 infection, significant arrhythmias are infrequent, but are more common than expected in a general pediatric population. Comorbidities are not more common in patients with arrhythmias than in patients without arrhythmias. COVID-19 treatment using HCQ is associated with QTc prolongation but was not associated with arrhythmias in pediatric patients.

Preoperative Physiology, Imaging, and Management of Coarctation of Aorta in Children.

Coarctation of the aorta (CoA) is a narrowing of the proximal thoracic aorta typically located at the junction of the aorta with the ductus arteriosus. While it is a simple lesion to understand, considerable variation exists in the anatomy and pathophysiology, leading to varied clinical presentation, management options, and prognosis. On the one hand critical CoA manifests in the neonatal period as a duct-dependent lesion, while less severe forms of obstruction present later in childhood or adulthood as hypertension or incidentally noted precordial murmurs. While transthoracic echocardiography is usually adequate, older children and adults may need more advanced imaging modalities like computed tomography and magnetic resonance imaging prior to intervention. Depending on the type of lesion, management options currently available include surgery and percutaneous balloon angioplasty and stenting. Even after successful interventions, these patients need life-long surveillance for residual aortic obstruction and systemic hypertension with variable long-term clinical outcomes.

Comparison of chloral hydrate and pentobarbital sedation for pediatric echocardiography.

BACKGROUND: In 2013, outpatient use of chloral hydrate (CH) was limited and other alternatives such as oral pentobarbital (PB) were explored to achieve conscious sedation in young children for transthoracic echocardiography (TTE). We aimed to assess efficacy and safety of the two medications. METHODS: Clinical information, from a computerized database, about children who received sedation with either CH or PB for TTE at our center (2008-2015) was reviewed, and the two groups were compared for sedation effectiveness and complications. RESULTS: Three thousand eight hundred fifty one pediatric patients (median age 8 months) underwent conscious sedation during TTE (mean doses CH 50 mg/kg, PB 4 mg/kg). Demographic characteristics of the two groups were similar. Sedation failure rate (CH 2.4%, PB 2.9%, P = NS), need for supplemental doses (CH 17.9%, PB 16.2%, P = NS), and overall adverse event rate (PB 1.4%, CH 1.9%; P = NS) were similar in the two groups. There were fewer episodes of respiratory depression with PB (0.3% vs 1.6%, P < 0.05). The rate of paradoxical reactions was higher with PB (1% vs 0.03%, P < 0.05). Increasing age predicted the need for supplemental doses and for sedation failure in both groups. Neonates (7.5% vs 0%) and infants (2% vs 0.6%) given CH were more likely to develop adverse reactions. CONCLUSION: Chloral hydrate and PB are equally effective. However, CH is associated with an increased incidence of transient desaturation, while PB is associated with an increased incidence of a paradoxical reaction. Increasing age is predictive of the need for supplemental doses and for failure of sedation in both groups.