Browsing by Subject "Congenital heart disease"
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Item A Lecture to Teach an Approach and Improve Resident Comfort in Leading Resuscitation of Young Infants in the Emergency Department(University of California, 2022-01-15) Whitehead, Anne; Emergency Medicine, School of MedicineAudience: The intended audience of this lecture is emergency medicine residents at all levels of training. It is also appropriate for practicing emergency physicians interested in improving comfort in resuscitating sick young infants, ages 0-60 days. Introduction: The majority of sick and injured children in the United States are seen and treated in general emergency departments.1 This includes very young infants (0-60 days old) in need of immediate resuscitation. Resuscitation of children in this age group involves use of specific knowledge and skills that residents and emergency physicians in general have fewer opportunities to practice.2,3 Emergency medicine residents and practicing emergency physicians often report this as an area of particular discomfort in practice.4,5 It is important that the inconsistent and infrequent opportunities to resuscitate young infants during emergency medicine residency and beyond are supplemented by residency didactics that focus on improving comfort and skills with this population of sick children. This lecture focuses on a practical approach intended to improve the relevant knowledge, skills, and confidence required to stabilize a critically ill young infant in a general emergency department. Educational objectives: By the end of this lecture, participants should be able to:Apply a consistent approach to the initial resuscitation of a critically ill young infant in the emergency department.Select appropriate medications and equipment for use in resuscitation of critically ill young infants.Describe the components of the Pediatric Assessment Triangle,6 which can be used to identify critically ill infants and children.Improve comfort in resuscitating young infants in the emergency department. Educational methods: This is a live lecture format using PowerPoint slides. The lecture emphasizes a practical approach to improve the skills and knowledge required for successful young infant resuscitation. It utilizes a case-based approach, and encourages the audience to determine next steps in care to mimic the real time decision-making required for care of critically ill young infants in the ED. Research methods: Learners were asked to fill out anonymous pre- and post quizzes immediately prior to and directly after the lecture was given. These surveys included questions to assess resident knowledge as well as resident comfort as it pertained to resuscitation of critically ill young infants. Results: Resident comfort with resuscitation of young infants improved with a mean Standard Deviation (SD) pre-lecture rating of 23.1(14.9) on a 100-point visual analog scale and a mean (SD) post lecture rating of 46.7(14.6). Resident performance on all knowledge base questions improved on the post-lecture quiz for all four questions asked. Discussion: This lecture was effective in improving emergency medicine resident comfort and practical knowledge pertaining to resuscitation of young infants in the emergency department. The emphasis on a practical approach was well received by the resident audience, and they engaged well with audience participation portions of the lecture. The impact of the lecture can be enhanced by having the lecturer share their own real-world experience of resuscitation of young infants in the emergency department during the discussion portions of the lecture.Item A multi-disciplinary, comprehensive approach to management of children with heterotaxy(BMC, 2022-09-09) Saba, Thomas G.; Geddes, Gabrielle C.; Ware, Stephanie M.; Schidlow, David N.; del Nido, Pedro J.; Rubalcava, Nathan S.; Gadepalli, Samir K.; Stillwell, Terri; Griffiths, Anne; Bennett Murphy, Laura M.; Barber, Andrew T.; Leigh, Margaret W.; Sabin, Necia; Shapiro, Adam J.; Medical and Molecular Genetics, School of MedicineHeterotaxy (HTX) is a rare condition of abnormal thoraco-abdominal organ arrangement across the left-right axis of the body. The pathogenesis of HTX includes a derangement of the complex signaling at the left-right organizer early in embryogenesis involving motile and non-motile cilia. It can be inherited as a single-gene disorder, a phenotypic feature of a known genetic syndrome or without any clear genetic etiology. Most patients with HTX have complex cardiovascular malformations requiring surgical intervention. Surgical risks are relatively high due to several serious comorbidities often seen in patients with HTX. Asplenia or functional hyposplenism significantly increase the risk for sepsis and therefore require antimicrobial prophylaxis and immediate medical attention with fever. Intestinal rotation abnormalities are common among patients with HTX, although volvulus is rare and surgical correction carries substantial risk. While routine screening for intestinal malrotation is not recommended, providers and families should promptly address symptoms concerning for volvulus and biliary atresia, another serious morbidity more common among patients with HTX. Many patients with HTX have chronic lung disease and should be screened for primary ciliary dyskinesia, a condition of respiratory cilia impairment leading to bronchiectasis. Mental health and neurodevelopmental conditions need to be carefully considered among this population of patients living with a substantial medical burden. Optimal care of children with HTX requires a cohesive team of primary care providers and experienced subspecialists collaborating to provide compassionate, standardized and evidence-based care. In this statement, subspecialty experts experienced in HTX care and research collaborated to provide expert- and evidence-based suggestions addressing the numerous medical issues affecting children living with HTX.Item A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease(American Heart Association, 2023) Landis, Benjamin J.; Helvaty, Lindsey R.; Geddes, Gabrielle C.; Lin, Jiuann-Huey Ivy; Yatsenko, Svetlana A.; Lo, Cecilia W.; Border, William L.; Burns Wechsler, Stephanie; Murali, Chaya N.; Azamian, Mahshid S.; Lalani, Seema R.; Hinton, Robert B.; Garg, Vidu; McBride, Kim L.; Hodge, Jennelle C.; Ware, Stephanie M.; Pediatrics, School of MedicineBackground: Chromosomal microarray analysis (CMA) provides an opportunity to understand genetic causes of congenital heart disease (CHD). The methods for describing cardiac phenotypes in patients with CMA abnormalities have been inconsistent, which may complicate clinical interpretation of abnormal testing results and hinder a more complete understanding of genotype–phenotype relationships. Methods and Results: Patients with CHD and abnormal clinical CMA were accrued from 9 pediatric cardiac centers. Highly detailed cardiac phenotypes were systematically classified and analyzed for their association with CMA abnormality. Hierarchical classification of each patient into 1 CHD category facilitated broad analyses. Inclusive classification allowing multiple CHD types per patient provided sensitive descriptions. In 1363 registry patients, 28% had genomic disorders with well‐recognized CHD association, 67% had clinically reported copy number variants (CNVs) with rare or no prior CHD association, and 5% had regions of homozygosity without CNV. Hierarchical classification identified expected CHD categories in genomic disorders, as well as uncharacteristic CHDs. Inclusive phenotyping provided sensitive descriptions of patients with multiple CHD types, which occurred commonly. Among CNVs with rare or no prior CHD association, submicroscopic CNVs were enriched for more complex types of CHD compared with large CNVs. The submicroscopic CNVs that contained a curated CHD gene were enriched for left ventricular obstruction or septal defects, whereas CNVs containing a single gene were enriched for conotruncal defects. Neuronal‐related pathways were over‐represented in single‐gene CNVs, including top candidate causative genes NRXN3, ADCY2, and HCN1. Conclusions: Intensive cardiac phenotyping in multisite registry data identifies genotype–phenotype associations in CHD patients with abnormal CMA.Item Acute Kidney Injury and Fluid Overload in Pediatric Cardiac Surgery(Springer, 2019-12) Carlisle, Michael A.; Soranno, Danielle E.; Basu, Rajit K.; Gist, Katja M.; Pediatrics, School of MedicinePurpose of review: Acute kidney injury (AKI) and fluid overload affect a large number of children undergoing cardiac surgery, and confers an increased risk for adverse complications and outcomes including death. Survivors of AKI suffer long-term sequelae. The purpose of this narrative review is to discuss the short and long-term impact of cardiac surgery associated AKI and fluid overload, currently available tools for diagnosis and risk stratification, existing management strategies, and future management considerations. Recent findings: Improved risk stratification, diagnostic prediction tools and clinically available early markers of tubular injury have the ability to improve AKI-associated outcomes. One of the major challenges in diagnosing AKI is the diagnostic imprecision in serum creatinine, which is impacted by a variety of factors unrelated to renal disease. In addition, many of the pharmacologic interventions for either AKI prevention or treatment have failed to show any benefit, while peritoneal dialysis catheters, either for passive drainage or prophylactic dialysis may be able to mitigate the detrimental effects of fluid overload. Summary: Until novel risk stratification and diagnostics tools are integrated into routine practice, supportive care will continue to be the mainstay of therapy for those affected by AKI and fluid overload after pediatric cardiac surgery. A viable series of preventative measures can be taken to mitigate the risk and severity of AKI and fluid overload following cardiac surgery, and improve care.Item Adolescent Women with Congenital Heart Disease: Self-Reported Reproductive Health Discussions with Health Care Providers(Elsevier, 2022) Katz, Amy J.; Lyon, Shannon; Farrell, Anne G.; Srivastava, Nayan; Wilkinson, Tracey A.; Shew, Marcia L.; Pediatrics, School of MedicineStudy objective: This study evaluated self-reported discussions with health care providers (HCPs) among adolescent and young adult (AYA) women with congenital heart disease (CHD). Design: Data were collected through a one-time survey of AYA women. Setting: Participants were recruited from pediatric cardiology clinics. Participants: AYA women with CHD, ages 14-21 (N = 107) INTERVENTIONS: None MAIN OUTCOME MEASURES: Questionnaires assessed adolescent characteristics and specific HCP discussions regarding transmissibility of a cardiac condition to the infant, risk of pregnancy, and hormonal contraception. Outcome measures were self-reported discussions with HCPs about these reproductive health topics. Results: Mean age was 16.8 years (SD = 2.1). Self-reported reproductive health discussions were infrequent, including discussions on transmissibility of a heart condition to their offspring (37%), risk of pregnancy to their offspring (34%), risks of pregnancy to their health (46%), and risks of hormonal contraception given their heart condition (21%). Reported discussions were most commonly with a cardiologist. Conclusions: AYA women with CHD reported limited discussions about reproductive health topics important to those with CHD. Lack of appropriate and timely counseling could lead to poor maternal and child health outcomes. Targeted interventions that improve reproductive health discussions between HCPs and AYA women with CHD are needed to close critical information and service gaps.Item Benign Hepatic Nodules Mimicking Hepatocellular Carcinoma in the Setting of Fontan-associated Liver Disease: A Case Report(JAYPEE, 2020-06-01) Çolaklar, Anıl; Lehnert, Stephen J; Tirkes, Temel; Radiology and Imaging Sciences, School of MedicineFontan procedure, in which systemic circulation is redirected into pulmonary circulation by a baffle, is a palliative surgical strategy for patients born with single ventricle congenital heart disease. Hemodynamic changes secondary to Fontan procedure, also termed as Fontan physiology, result in end-organ damage, especially of the liver. Fontan-associated liver disease (FALD) represents a spectrum of pathologies ranging from mild liver fibrosis to advanced liver cirrhosis and hepatocellular carcinoma (HCC). Hepatic nodules, some of which have been documented as HCC in several case series and reports, are a recognized complicated feature of FALD. Herein, we report a case with benign hepatic nodules mimicking HCC by imaging characteristics, emphasizing the fact that arterially enhancing lesions with delayed washout appearance may reflect benign regenerative or focal nodular hyperplasia-like nodules in patients with Fontan physiology.Item Case Report: A Rare Case of Right-Sided Papillary Fibroelastoma in a 1-Year-Old With Congenital Heart Disease(Frontiers Media, 2021-01-27) Ahmad, Ali; El-Am, Edward A.; Kurmann, Reto D.; Hagler, Donald J.; Bois, Melanie C.; Maleszewski, Joseph J.; Klarich, Kyle W.; Medicine, School of MedicineIntroduction: Cardiac papillary fibroelastomas (PFEs) are the most common primary benign cardiac tumors, although they are somewhat unusual in children and typically seen on the left-sided cardiac valves. Case summary: A 10-week-old patient was found to have a partial atrioventricular canal defect, with associated tricuspid and mitral regurgitation. He was medically managed until 1 year of age, when surgical correction was done. During the procedure, a PFE was found incidentally on the TV. Conclusion: This is one of the youngest patients to be reported with PFE, thus adding to the literature of these unusual cases in children.Item Clinical Genetic and Genomic Testing in Congenital Heart Disease and Cardiomyopathy(MDPI, 2024-04-26) Pidaparti, Mahati; Geddes, Gabrielle C.; Durbin, Matthew D.; Pediatrics, School of MedicineCongenital heart disease (CHD) and cardiomyopathies are the leading cause of morbidity and mortality worldwide. These conditions are often caused by genetic factors, and recent research has shown that genetic and genomic testing can provide valuable information for patient care. By identifying genetic causes, healthcare providers can screen for other related health conditions, offer early interventions, estimate prognosis, select appropriate treatments, and assess the risk for family members. Genetic and genomic testing is now the standard of care in patients with CHD and cardiomyopathy. However, rapid advances in technology and greater availability of testing options have led to changes in recommendations for the most appropriate testing method. Several recent studies have investigated the utility of genetic testing in this changing landscape. This review summarizes the literature surrounding the clinical utility of genetic evaluation in patients with CHD and cardiomyopathy.Item Cognitive and Attentional Function in Children with Hypoplastic Left Heart Syndrome: A Pilot Study(Springer Nature, 2021) Siciliano, Rachel E.; Murphy, Lexa K.; Prussien, Kemar V.; Henry, Lauren M.; Watson, Kelly H.; Patel, Niral J.; Lee, Chelsea A.; McNally, Colleen M.; Markham, Larry W.; Compas, Bruce E.; Jordan, Lori C.; Pediatrics, School of MedicineWhile survival for children with hypoplastic left heart syndrome (HLHS) has improved, compromised cardiac output and oxygen delivery persist, and children show cognitive deficits. Most research has assessed young children on broad cognitive indices; less is known about specific indices in older youth. In this pilot study, cognitive function and attention in youth ages 8 to 16 years with HLHS (n = 20) was assessed with the Wechsler Intelligence Scale for Children – Fifth Edition (WISC-V) and NIH Toolbox Cognition Battery (NTCB); parents completed the Child Behavior Checklist. Children scored significantly lower than normative means on the WISC-V Full Scale IQ, Verbal Comprehension, Visual Spatial, Working Memory, and Processing Speed indices, and the NTCB Fluid Cognition Composite; effect sizes ranged from medium to large. Attention problems had a large significant effect. Child age corresponded to lower visual spatial scores. Findings highlight the importance of assessing multiple cognitive indices for targeted intervention and investigating age and disease factors as potential correlates in larger samples.Item Complex Arrhythmia Syndrome in a Knock-In Mouse Model Carrier of the N98S Calm1 Mutation(American Heart Association, 2020) Tsai, Wen-Chin; Guo, Shuai; Olaopa, Michael A.; Field, Loren J.; Yang, Jin; Shen, Changyu; Chang, Ching-Pin; Chen, Peng-Sheng; Rubart, Michael; Medicine, School of MedicineBackground: Calmodulin mutations are associated with arrhythmia syndromes in humans. Exome sequencing previously identified a de novo mutation in CALM1 resulting in a p.N98S substitution in a patient with sinus bradycardia and stress-induced bidirectional ventricular ectopy. The objectives of the present study were to determine if mice carrying the N98S mutation knocked into Calm1 replicate the human arrhythmia phenotype and to examine arrhythmia mechanisms. Methods: Mouse lines heterozygous for the Calm1N98S allele (Calm1N98S/+) were generated using CRISPR/Cas9 technology. Adult mutant mice and their wildtype littermates (Calm1+/+) underwent electrocardiographic monitoring. Ventricular de- and repolarization was assessed in isolated hearts using optical voltage mapping. Action potentials and whole-cell currents and [Ca2+]i, as well, were measured in single ventricular myocytes using the patch-clamp technique and fluorescence microscopy, respectively. The microelectrode technique was used for in situ membrane voltage monitoring of ventricular conduction fibers. Results: Two biologically independent knock-in mouse lines heterozygous for the Calm1N98S allele were generated. Calm1N98S/+ mice of either sex and line exhibited sinus bradycardia, QTc interval prolongation, and catecholaminergic bidirectional ventricular tachycardia. Male mutant mice also showed QRS widening. Pharmacological blockade and activation of β-adrenergic receptors rescued and exacerbated, respectively, the long-QT phenotype of Calm1N98S/+ mice. Optical and electric assessment of membrane potential in isolated hearts and single left ventricular myocytes, respectively, revealed β-adrenergically induced delay of repolarization. β-Adrenergic stimulation increased peak density, slowed inactivation, and left-shifted the activation curve of ICa.L significantly more in Calm1N98S/+ versus Calm1+/+ ventricular myocytes, increasing late ICa.L in the former. Rapidly paced Calm1N98S/+ ventricular myocytes showed increased propensity to delayed afterdepolarization-induced triggered activity, whereas in situ His-Purkinje fibers exhibited increased susceptibility for pause-dependent early afterdepolarizations. Epicardial mapping of Calm1N98S/+ hearts showed that both reentry and focal mechanisms contribute to arrhythmogenesis. Conclusions: Heterozygosity for the Calm1N98S mutation is causative of an arrhythmia syndrome characterized by sinus bradycardia, QRS widening, adrenergically mediated QTc interval prolongation, and bidirectional ventricular tachycardia. β-Adrenergically induced ICa.L dysregulation contributes to the long-QT phenotype. Pause-dependent early afterdepolarizations and tachycardia-induced delayed afterdepolarizations originating in the His-Purkinje network and ventricular myocytes, respectively, constitute potential sources of arrhythmia in Calm1N98S/+ hearts.