Original Article
Evaluation of ventricular function and myocardial deformation in children with repaired tetralogy of Fallot by real-time three-dimensional (four-dimensional) echocardiography
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- Ayşe G. Eroğlu, Selman Gökalp, Sezen U. Atik, Damla Önal, Hazal C. Acar, Levent Saltık
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- Published online by Cambridge University Press:
- 06 January 2022, pp. 1901-1909
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Aim:
The left and right ventricular dysfunction are important clinical course indicators in patients with repaired tetralogy of Fallot. This study aimed to evaluate ventricular volumes, functions, and myocardial deformation in children with repaired tetralogy of Fallot by real-time three-dimensional (four-dimensional) echocardiography and compared with healthy children. It also aimed to investigate the relationships between ventricular volumes, functions, and myocardial deformation parameters in the patients.
Materials and methods:In this cross-sectional study, 35 patients (mean age 15.1 ± 2.8 years, 54% male) and 35 healthy controls of similar age, gender, and body measurements underwent echocardiography. End-diastolic volume index, end-systolic volume index, and ejection fractions of both ventricles; global longitudinal, circumferential, radial strain, twist, and torsion of the left ventricle; the longitudinal strain of the right ventricle free wall and septum were measured.
Results:Left ventricular ejection fraction, global circumferential and radial strain, twist and torsion were significantly lower in patients compared with controls. Left ventricular ejection fraction correlated with global circumferential (r = −0.446, p < 0.001) and radial strain (r = −0.433, p < 0.001) in the patients. Right ventricular volumes were significantly higher, and ejection fraction was significantly lower in patients compared with controls. All right ventricular parameters correlated with each other in the patients.
Conclusion:Left ventricular contraction pattern was changed, circumferential and radial fibres were most affected in the patients. Right ventricular dilatation and dysfunction were detected, and right ventricular ejection fraction correlated well with strain measurements of the right ventricle.
Variation in management of paediatric isolated bicuspid aortic valve: current practice survey
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- Jesse M. Boyett Anderson, John S Hokanson
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- 04 May 2021, pp. 24-30
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Background:
Prior to the recent release of appropriate use criteria for imaging valvulopathies in children, follow-up of valvular lesions, including isolated bicuspid aortic valve, was not standardised. We describe current follow up, treatment, and intervention strategies for isolated bicuspid aortic valve with varying degrees of stenosis, regurgitation, and dilation in children up to 18 years old and compare them with newly released appropriate use criteria.
Methods:Online survey was sent to members of the American Academy of Pediatrics Section on Cardiology and Cardiac Surgery and PediHeartNet.
Results:Totally, 106 responses with interpretable data were received. For asymptomatic patients with isolated BAV without stenosis, regurgitation, or dilation follow-up-intervals increased from 7+/−4 months in the newborn period to 28 +/− 14 months at 18 years of age. Respondents recommended more frequent follow-up for younger patients and those with greater disease severity. More than 80% of respondents treat aortic regurgitation or aortic dilation in the setting of bicuspid aortic valve medically. In general, intervention was recommended once stenosis or regurgitation became severe (stenosis of >4 m/s; regurgitation with LV Z score 4) regardless of age, but was not routinely recommended for younger children (newborn – age 6 years) with severe dilation. Exercise was restricted at 38+/−11 mmHg echocardiographic mean gradient.
Conclusions:Current follow-up, treatment, and intervention strategies for isolated bicuspid aortic valve deviate from appropriate use criteria. Differences between the two highlight the need to better delineate the disease course, clarify recommendations for care, and encourage wider adoption of guidelines.
Is there any relationship between platelet indices and myocarditis in children?
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- Damla Geçkalan Soysal, Rahmi Özdemir
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- 10 May 2021, pp. 203-207
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Background:
Platelet indices are used to evaluate platelet activation and function which change in inflammatory diseases. We hypothesise that platelet indices such as plateletcrit, mean platelet volume, and platelet distribution width may be more useful as prognostic indicators for myopericarditis in children.
Methods:A total of 60 children were included in this study. Group 1 consists of children with myopericarditis, Group 2 is those with respiratory infections, and Group 3 consists of control group children of similar age and gender with the patient groups. Complete blood count parameters, C-reactive protein, and troponin values of the whole study group were recorded. Myopericarditis was diagnosed based on acute chest pain, dyspnea, palpitations, heart failure signs, arrhythmia symptoms and ST/T wave change, low voltage, supraventricular tachycardia/ventricular tachycardia on ECG, or elevated troponin T/troponin I levels or functional abnormalities on echocardiography. A comparison of the platelet indices made during diagnosis and 2 weeks after treatment was done for the myopericarditis patients.
Results:There was no statistically significant difference in platelet indicies values. However, the increase in platelets and plateletcrit values after the treatment of myopericarditis was statistically significant. This study pointed out that there was a negative correlation between platelet–plateletcrit values and the troponin I–C-reactive protein.
Conclusion:We found that platelet count and plateletcrit values increased after treatment. This is important as it is the first study in children to investigate the possible role of platelet indications for myopericarditis in children.
Digital solution for follow-up in congenital cardiac surgery
- Laura Carlson, Jacqueline O’Brien, Nitin Gujral, Vincent Chiang, Pedro del Nido, Meena Nathan
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- Published online by Cambridge University Press:
- 09 September 2021, pp. 1032-1040
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Background:
In this era of public scrutiny, there is an ongoing need for innovative methods for patient follow-up.
Objectives:As part of a quality initiative, we developed an automated post-operative follow-up system for patients following discharge after cardiac surgery at Boston Children’s Hospital.
Methods:Discharge Communication (DisCo) is a web-based system developed at Boston Children’s Hospital. An automated text and e-mail with a link to a health status survey are sent at 30 days and 1 year post-discharge in English/Spanish. If there is no response, surveys are completed via phone calls to the patient/patient’s physician or chart review. Responses are stored in the DisCo database and the patient’s medical record. Patients who underwent cardiac surgery and survived to hospital discharge from October, 2016 received the surveys.
Results:Overall, 3345 30-day and 2563 1-year surveys were sent between October, 2016 and June, 2020. Of 3345 30-day surveys, there were 3191 responses (95%). Of 2563 1-year surveys, there were 1807 responses (71%). Most patients/families responded directly to the link at 30 days (65% for paediatrics/75% for adults) and at 1 year (72% for paediatrics/78% for adults). Multi-variable logistic regression revealed that higher complexity of cardiac lesion, presence of major non-cardiac anomalies and presence of major residua were associated with readmission and catheter/surgical reinterventions. Non-cardiac anomalies were associated with increased need for services for learning, development or behaviour.
Conclusions:DisCo provides a successful web-based health status assessment of patients following congenital cardiac surgery. It helps to identify high-risk patients who need closer follow-up.
Quality of life and emotional vulnerability in a national cohort of adolescents living with Fontan circulation
- Inger Bygland Grosch, Brith Andresen, Lien My Diep, Trond H. Diseth, Thomas Möller
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- Published online by Cambridge University Press:
- 13 August 2021, pp. 874-882
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Introduction:
To investigate quality of life and mental health after Fontan completion, we aimed to characterise outcomes in a representative group of adolescent patients. The study was part of the pre-transition clinical work-up in adolescents with Fontan-type palliation of univentricular CHD. The programme covers the entire paediatric Fontan patient population in Norway.
Methods:Our cross-sectional study included 42 adolescents with Fontan circulation aged 15–18. We recruited a control group of 29 healthy peers. Quality of life was measured by the Pediatric Quality of Life Inventory Questionnaire, while mental health was assessed with the Strength and Difficulties Questionnaire.
Results:Fontan patients scored lower than healthy controls on the Pediatric Quality of Life Inventory total (p = 0.004), the physical (p < 0.001) and social (p = 0.001) functioning subscale, and the Strength and Difficulties Questionnaire subscale of emotional symptoms (p = 0.035). Compared to two of the healthy teens (7%), seven patients (16%) in the Fontan group scored as having impaired mental health (p = 0.224). The female/male ratio for individuals with impaired health was 7:2 (p = 0.003).
Conclusions:Compared to healthy controls, adolescents after Fontan-type palliation in Norway have good health-related quality of life and mental health, despite having slightly lower score than healthy individuals, mainly in physical domains and school functioning. Compared to healthy controls and healthy teenagers, these adolescents have somewhat more emotional problems, and compared to male patients, female patients more often have impaired mental health.
Aspirin resistance in infants with shunt-dependent congenital heart disease
- Wonshill Koh, Megan Rodts, Ashley Nebbia, Jaclyn Sawyer, Brandon Henry, David S. Cooper
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- 26 July 2021, pp. 705-710
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Introduction:
Patients with cyanotic heart disease are at an increased risk of developing thrombosis. Aspirin has been the mainstay of prophylactic anticoagulation for shunt-dependent patients with several reports of prevalent aspirin resistance, especially in neonates. We investigate the incidence of aspirin resistance and its relationship to thrombotic events and mortality in a cohort of infants with shunt-dependent physiology.
Methods:Aspirin resistance was assessed using the VerifyNow™ test on infants with single-ventricle physiology following shunt-dependent palliation operations. In-hospital thrombotic events and mortality data were collected. Statistical analysis was performed to evaluate the effect of aspirin resistance on in-hospital thrombotic events and mortality risk.
Results:Forty-nine patients were included with 41 of these patients being neonates. Six patients (12%) were aspirin resistant. A birth weight < 2500 grams was a significant factor associated with aspirin resistance (p = 0.04). Following a dose increase or additional dose administration, all patients with initial aspirin resistance had a normal aspirin response. There was no statistically significant difference between aspirin resistance and non-resistance groups with respect to thrombotic events. However, a statistically significant incidence of in-hospital mortality in the presence of thrombotic events was observed amongst aspirin-resistant patients (p = 0.04) in this study.
Conclusion:Low birth weight was associated with a higher incidence of aspirin resistance. Inadequate initial dosing appears to be the primary reason for aspirin resistance. The presence of both thrombotic events and aspirin resistance was associated with significantly higher in-hospital mortality indicating that these patients warrant closer monitoring.
Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort
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- Barry J. Byrne, Steven D. Colan, Priya S. Kishnani, Meredith C. Foster, Susan E. Sparks, James B. Gibson, Kristina An Haack, David W. Stockton, Loren D. M. Peña, Si Houn Hahn, Judith Johnson, Pranoot X. Tanpaiboon, Nancy D. Leslie, David Kronn, Richard E. Hillman, Raymond Y. Wang
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- 23 August 2021, pp. 364-373
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Pompe disease results from lysosomal acid α-glucosidase deficiency, which leads to cardiomyopathy in all infantile-onset and occasional late-onset patients. Cardiac assessment is important for its diagnosis and management. This article presents unpublished cardiac findings, concomitant medications, and cardiac efficacy and safety outcomes from the ADVANCE study; trajectories of patients with abnormal left ventricular mass z score at enrolment; and post hoc analyses of on-treatment left ventricular mass and systolic blood pressure z scores by disease phenotype, GAA genotype, and “fraction of life” (defined as the fraction of life on pre-study 160 L production-scale alglucosidase alfa). ADVANCE evaluated 52 weeks’ treatment with 4000 L production-scale alglucosidase alfa in ≥1-year-old United States of America patients with Pompe disease previously receiving 160 L production-scale alglucosidase alfa. M-mode echocardiography and 12-lead electrocardiography were performed at enrolment and Week 52. Sixty-seven patients had complete left ventricular mass z scores, decreasing at Week 52 (infantile-onset patients, change −0.8 ± 1.83; 95% confidence interval −1.3 to −0.2; all patients, change −0.5 ± 1.71; 95% confidence interval −1.0 to −0.1). Patients with “fraction of life” <0.79 had left ventricular mass z score decreasing (enrolment: +0.1 ± 3.0; Week 52: −1.1 ± 2.0); those with “fraction of life” ≥0.79 remained stable (enrolment: −0.9 ± 1.5; Week 52: −0.9 ± 1.4). Systolic blood pressure z scores were stable from enrolment to Week 52, and no cohort developed systemic hypertension. Eight patients had Wolff–Parkinson–White syndrome. Cardiac hypertrophy and dysrhythmia in ADVANCE patients at or before enrolment were typical of Pompe disease. Four-thousand L alglucosidase alfa therapy maintained fractional shortening, left ventricular posterior and septal end-diastolic thicknesses, and improved left ventricular mass z score.
Trial registry: ClinicalTrials.gov Identifier: NCT01526785 https://clinicaltrials.gov/ct2/show/NCT01526785.
Social Media Statement: Post hoc analyses of the ADVANCE study cohort of 113 children support ongoing cardiac monitoring and concomitant management of children with Pompe disease on long-term alglucosidase alfa to functionally improve cardiomyopathy and/or dysrhythmia.
Estimating filling pressures in paediatric heart transplant recipients using echocardiographic parameters and B-type natriuretic peptide
- Bethany L. Wisotzkey, Bereketeab Haileselassie, Neal Jorgensen, Erin L. Albers, Mariksa S. Kemna, Brian D. Soriano, Aarti H. Bhat, Richard A. Kronmal, Robert J. Bouccek, Yuk M. Law
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- 24 June 2021, pp. 531-538
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Background:
Longitudinal evaluation of allograft diastolic function in paediatric heart transplant recipients is important for early detection of acute rejection, cardiac allograft vasculopathy, and graft dysfunction. Mean diastolic right atrial and pulmonary capillary wedge pressures obtained at catheterisation are the reference standards for assessment. Echocardiography is non-invasive and more suitable for serial surveillance, but individual parameters have lacked accuracy. This study aimed to identify covariates of post-transplant mean right atrial and pulmonary capillary wedge pressures, including B-type natriuretic peptide and certain echocardiographic parameters.
Methods:A retrospective review of 143 scheduled cardiac catheterisations and echocardiograms from 56 paediatric recipients transplanted from 2007 to 2011 was performed. Samples with rejection were excluded. Univariate and multivariate linear regression models using backward selection were applied to a database consisting of B-type natriuretic peptide, haemodynamic, and echocardiographic data.
Results:Ln B-type natriuretic peptide, heart rate z-score, left ventricular end-diastolic dimension z-score, mitral E/e’, and percent interventricular septal thickening in systole were independently associated with mean right atrial pressure. Ln B-type natriuretic peptide, heart rate z-score, left ventricular end-diastolic dimension z-score, left ventricular mass (observed/predicted), and mitral E/e’ were independently associated with mean pulmonary capillary wedge pressure. Covariates of B-type natriuretic peptide included mean pulmonary artery and pulmonary capillary wedge pressures, height, haemoglobin, fractional shortening, percent interventricular septal thickening in systole, and pulmonary vascular resistance index.
Conclusions:B-type natriuretic peptide and echocardiographic indices of diastolic function were independently related to post-transplant mean right atrial and pulmonary capillary wedge pressures in paediatric heart transplant recipients without rejection.
Editorial
Health literacy in CHD
- Joseph Burns, Clarerita Higgins, Madhusudan Ganigara, Becca Kalivas, Amy Basken
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- 25 May 2022, pp. 1369-1372
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Review
Peripheral and respiratory muscle strength in children and adolescents with CHD: systematic review and meta-analysis
- Camila da C. Niedermeyer, Maria Luiza Y. Shizukuishi, Camila W. Schaan, Janice L. Lukrafka
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- 06 October 2022, pp. 1728-1741
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Patients with CHD are less active if compared with controls and have limited functional capacity, related to muscle weakness and fatigue. The aim of this study was to evaluate the peripheral and respiratory muscle strength of children and adolescents with CHD with systematic review and meta-analysis. The review included observational and randomised control trial studies which evaluated peripheral and respiratory muscle strength in children and adolescents with CHD under 18 years old. The peripheral muscle strength was evaluated through dynamometry and respiratory muscle strength through manovacuometry. In studies that compared patients with CHD and respective control groups, it was possible to perform a meta-analysis. A total of 5634 articles met the criteria of eligibility, 15 were included in the systematic review, and 4 were included in the meta-analysis. Twelve studies assessed peripheral muscle strength with a reduction in patients with CHD. In the meta-analysis, patients with CHD had lower muscle strength than controls (−34.07 nm; 95% CI, −67.46 to −0.68; I2 47%; p for heterogeneity = 0.05), and the meta-analysis of the handgrip muscle strength showed no significant difference between patients with CHD and controls (0.08 nm; 95% CI, −6.39 to 6.55; I2 98%; p for heterogeneity <0.00001). The meta-analysis in the present study showed lower limb muscle strength in patients with CHD in comparison to controls. In contrast, no difference was found regarding hand grip strength. Also, the review showed lower respiratory muscle strength in patients with CHD, yet no meta-analysis was possible to perform.
Original Article
Assessing the utility of screening electrocardiograms in paediatric patients following COVID-19
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- Ari J. Gartenberg, Travus J. White, Khoi Dang, Maully Shah, Stephen M. Paridon, Matthew D. Elias
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- 08 July 2021, pp. 711-717
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Objective:
To determine the utility of screening electrocardiograms after severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection among children in detecting myocarditis related to coronavirus disease 2019 (COVID-19).
Study Design:A retrospective chart review was performed at a large paediatric academic institution to identify patients with prior SARS-CoV-2 infection who received a screening electrocardiogram by their primary care providers and were subsequently referred for outpatient cardiology consultation due to an abnormal electrocardiogram. The outcomes were the results from their cardiology evaluations, including testing and final diagnoses.
Results:Among 46 patients, during their preceding COVID-19 illness, the majority had mild symptoms, 4 were asymptomatic, and 1 had moderate symptoms. The median length of time from positive SARS-CoV-2 test to screening electrocardiogram was 22 days, and many electrocardiogram findings that prompted cardiology consultation were normal variants in asymptomatic adolescent athletes. Patients underwent frequent additional testing at their cardiology appointments: repeat electrocardiogram (72%), echocardiogram (59%), Holter monitor (11%), exercise stress test (7%), and cardiac MRI (2%). Five patients were incidentally diagnosed with CHD or structural cardiac abnormalities, and three patients had conduction abnormalities (pre-mature atrial contractions, pre-mature ventricular contractions, borderline prolonged QTc), although potentially incidental to COVID-19. No patients were diagnosed with myocarditis or ventricular dysfunction.
Conclusion:In a small cohort of children with prior COVID-19, who were primarily either asymptomatic or mildly symptomatic, subsequent screening electrocardiograms identified various potential abnormalities prompting cardiology consultation, but no patient was diagnosed with myocarditis. Larger multi-centre studies are necessary to confirm these results and to evaluate those with more severe disease.
Predictors of behavioural and emotional outcomes in toddlers with congenital heart disease
- Elizabeth Jilek, Ashley Shields, Liyun Zhang, Pippa Simpson, Laurel Bear, Sydney Allen Martins, Kathleen A. Mussatto, Cheryl L. Brosig
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- 22 September 2021, pp. 1216-1221
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Objectives:
Children with congenital heart disease (CHD) are at risk for psychological challenges, including internalising (e.g., depression, anxiety) and externalising (e.g., aggression, inattention) problems. The present study aimed to investigate the development of psychological concerns in early childhood by identifying predictors of behavioural and emotional problems in toddlers with CHD.
Methods:Children with CHD who were seen for neurodevelopmental (ND) evaluation at 12 ± 3 months of age, who completed the Bayley Scales of Infant Development–III (BSID-III) and whose parents completed the Child Behavior Checklist (CBCL), a standardised measure of emotional/behavioural problems at age 24–36 months, were included in the study (n = 144). CBCL scores were compared to test norms and classified as normal or abnormal. A classification tree was used to assess the association between CBCL scores and demographic and clinical variables.
Results:Multi-variable tree analyses revealed lower BSID-III language composite scores at age 9–15 months predicted clinical CBCL internalising (p < 0.001), externalising (p = 0.004) and total scores (p < 0.001) at age 24–36 months. Lower maternal education levels also predicted clinical CBCL internalising (p < 0.0001), externalising (p < 0.001) and total scores (p < 0.0001).
Conclusions:Lower language abilities and lower maternal education predict increased behavioural and emotional problems in toddlers with CHD. These risk factors should be considered during routine ND evaluations to allow for earlier identification of children with CHD and their families who may benefit from psychological support.
Preoperative monocytosis is predictable at diagnosis for RT-PCR negative COVİD-19 paediatric cardiac surgery patients
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- Ergin Arslanoğlu, Mehmet Emirhan Işık, Kenan Abdurrahman Kara, Fatih Yigit, Nihat Çine, Eylem Tunçer, Hakan Ceyran
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- 09 August 2021, pp. 883-887
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Other markers investigated in this population have gained importance in the diagnosis of the disease since the course of COVID-19 disease is atypical in the paediatric population and PCR may be misleading. The leukocyte profile is one of these biochemical tests. Children did not have lymphopenia in hemogram count, whereas relatively neutropenia and monocytosis were detected, unlike the adult population. The reason why children do not have lymphopenia is thought to be due to the fact that the thymus is more active in the first years of life.
Two-hundred and four patients operated in our paediatric cardiac surgery clinic from 11March, 2020 to 1 April, 2021 were retrospectively examined and 11 patients with preoperative asymptomatic and PCR (−), but with PCR (+) in the post-operative period (patients with incubation period or false PCR negativity) were included in our study. Patients requiring emergency operation and operated from PCR (+) patients in the preoperative period were excluded from the study.
The neutrophil ratio in the lymphocytic series of 7 patients out of 11 patients was slightly below the normal range in the preoperative period, the lymphocyte ratio of 3 patients was slightly above the normal range, and the relative monocyte ratio of 10 patients was slightly above the normal range.
We think that evaluating the leukocyte profile combined with RT-PCR will give more accurate results in the diagnosis of incubation period and false RT-PCR negative patients. In addition, we believe that the algorithms for non-complex paediatric cardiac surgery procedures and timing in the paediatric population with a better course of COVID-19 disease with a positive post-operative course.
A qualitative study exploring risk perception in congenital cardiac surgery: the perspective of UK surgeons
- Robyn R Lotto, Sarah E Seaton, Ian D Jones, Attilio A Lotto
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- 14 May 2021, pp. 208-214
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Introduction:
Managing risk is central to clinical care, yet most research focuses on patient perception, as opposed to how risk is enacted within the clinical setting by healthcare professionals.
Aim:To explore how surgical risk is perceived, encountered, and managed by congenital cardiac surgeons.
Methods:Semi-structured interviews were conducted with 20 congenital cardiac surgeons representing every unit across England and Wales. All interviews were transcribed verbatim, with analysis based on the constant comparative approach.
Findings:Three themes were identified, reflecting the interactions between personal, institutional, and political context in which risk is encountered and managed. First, “communicating risk” highlights the complexity and variability in methods employed by surgeons to balance legal/moral obligations with parental need and expectations. Universally, surgeons described the need for flexibility in their approach in order to meet the needs of individual patients. Second, “scrutiny and accountability” captures the spectrum of opinion arising from the binary nature of the outcomes collated and the way in which they are perceived to be interpreted. Third, “nature of the job” highlights the personal and professional implications of conveying and managing risk and the impact of recent policy changes on the way this is enacted.
Conclusion:Variations in approaches to communicating risk demonstrate a lack of consensus, compounded by insufficient evidence to determine or monitor a “best-care” approach. With current surgical outcomes suggesting little room for increasing survival rates, future care needs should shift to the “soft skills” in order to continue to drive improvements in parental and patient experience.
Novel pathogenic variant of MYBPC3 responsible for hypertrophic cardiomyopathy
- Xiaofei Yang, Zhenghao Li, Qingfa Wang, Yongfa Zhang, Cuifen Zhao
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- 28 June 2021, pp. 539-544
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Objectives:
This study aims to investigate the pathogenic gene variant in a family with hypertrophic cardiomyopathy by using whole-exome sequencing and to explore the relationship between the gene variant and clinical phenotype.
Methods:Peripheral blood was collected from a family with hypertrophic cardiomyopathy, and deoxyribonucleic acid was extracted. The possible pathogenic genes were detected by whole-exome sequencing, and the variant was verified by Sanger sequencing. Functional change in the variant was predicted by bioinformatics software. Clinical data of the family members are analysed simultaneously.
Results:The proband carries a novel heterozygous nonsense variant of MYBPC3:c.2731G > T (p.E911X). The analysis of amino acid conservation suggests that the variation is highly conserved. The three-dimensional protein structure shows that the variant in MYBPC3 results in the incompleteness of the fibronectintype-III2 (p872–967) domain and deletion of Ig-like C2-type 6 (p971–1065) and fibronectin type-III 3 and Ig-like C2-type 7 (p1181–1274) domains, in which p1253–1268 is predicted to have a transmembrane helix structure. Clinical data indicate that the phenotypes of variant carriers with hypertrophic cardiomyopathy are diverse, suggesting the functional damages to the protein of MYBPC3.
Conclusion:The phenotypes of variant carriers with hypertrophic cardiomyopathy caused by the novel variant in MYBPC3: c.2731G > T (p.E911X) exhibit variable severity and clinical manifestations. Whole-exome sequencing can be used to comprehensive screen hypertrophic cardiomyopathy genes and provide a strong basis for early screening and accurate diagnosis and treatment of hypertrophic cardiomyopathy in children.
Review
A systematic review of clinical study evidence for pulmonary vasodilator therapy following surgery with cardiopulmonary bypass in children with CHD
- Henry P. Foote, Christoph P. Hornik, Kevin D. Hill, Alexandre T. Rotta, Karan R. Kumar, Elizabeth J. Thompson
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- Published online by Cambridge University Press:
- 20 July 2022, pp. 1373-1390
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Objectives:
Complications from pulmonary hypertension are one of the leading contributors to morbidity and mortality post-cardiopulmonary bypass surgery in children with CHD. Pulmonary vasodilator therapies are commonly used post-operatively, but the optimal target patient population, therapy choice, timing of therapy initiation, and duration of therapy are not well defined.
Methods:We used PubMed and EMBASE to identify studies from 2000 to 2020 investigating the use of pulmonary vasodilator therapy post-cardiopulmonary bypass in children aged 0–18 years. To ensure eligibility criteria, studies were systematically reviewed by two independent reviewers.
Results:We identified 26 studies of 42,971 children across four medication classes; 23 were single centre, 14 were prospective, and 11 involved randomisation (four of which employed a placebo-control arm). A disproportionate number of children were from a single retrospective study of 41,872 patients. Definitions varied, but change in pulmonary haemodynamics was the most common primary outcome, used in 14 studies. Six studies had clinical endpoints, with mortality the primary endpoint for two studies. Treatment with inhaled nitric oxide, iloprost, and sildenafil all resulted in improved haemodynamics in specific cohorts of children with post-operative pulmonary hypertension, although improved outcomes were not consistently demonstrated across all treated children. Iloprost may be a cheaper alternative to inhaled nitric oxide with similar haemodynamic response.
Conclusion:Studies were predominantly single-centre, a control arm was rarely used in randomised studies, and haemodynamic endpoints varied significantly. Further research is needed to reduce post-operative morbidity and mortality from pulmonary hypertension in children with CHD.
Original Article
Assessing data accuracy in a large multi-institutional quality improvement registry: an update from the Pediatric Cardiac Critical Care Consortium (PC4)
- Jennifer Schuette, Hayden Zaccagni, Janet Donohue, Julie Bushnell, Kelly Veneziale, Michael Gaies, Sarah Tabbutt
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- 28 December 2021, pp. 1742-1747
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Background:
The Pediatric Cardiac Critical Care Consortium (PC4) is a multi-institutional quality improvement registry focused on the care delivered in the cardiac ICU for patients with CHD and acquired heart disease. To assess data quality, a rigorous procedure of data auditing has been in place since the inception of the consortium.
Materials and methods:This report describes the data auditing process and quantifies the audit results for the initial 39 audits that took place after the transition from version one to version two of the registry’s database.
Results:In total, 2219 total encounters were audited for an average of 57 encounters per site. The overall data accuracy rate across all sites was 99.4%, with a major discrepancy rate of 0.52%. A passing score is based on an overall accuracy of >97% (achieved by all sites) and a major discrepancy rate of <1.5% (achieved by 38 of 39 sites, with 35 of 39 sites having a major discrepancy rate of <1%). Fields with the highest discrepancy rates included arrhythmia type, cardiac arrest count, and current surgical status.
Conclusions:The extensive PC4 auditing process, including initial and routinely scheduled follow-up audits of every participating site, demonstrates an extremely high level of accuracy across a broad array of audited fields and supports the continued use of consortium data to identify best practices in paediatric cardiac critical care.
Cardiovascular causes of tracheobronchial compression: a decade experience in a Paediatric Congenital Heart Centre
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- Putri Yubbu, Haifa Abdul Latiff, Husna Musa, Navin Kumar Devaraj, Nurul Adha Mohd Razif, Sivakumar Sivalingam, Hasri Samion
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- 03 June 2021, pp. 374-382
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Background:
Vascular compression of the airway often complicates CHD management. This study evaluated the use of CT in determining cardiovascular causes, clinical manifestations, and outcome of tracheobronchial compression among children with CHD.
Methods:A retrospective review of clinical records of all patients with CT scan evidence of tracheobronchial compression from January 2007 to December 2017 at National Heart Institute. Cardiovascular causes of tracheobronchial compression were divided into three groups; group I: vascular ring/pulmonary artery sling, II: abnormally enlarged or malposition cardiovascular structure due to CHD, III: post-CHD surgery.
Results:Vascular tracheobronchial compression was found in 81 out of 810 (10%) patients who underwent CT scan. Group I lesions were the leading causes of vascular tracheobronchial compression (55.5%), followed by group II (34.6%) and group III (9.9%). The median age of diagnosis in groups I, II, and III were 16.8 months, 3 months, and 15.6 months, respectively. Half of group I patients are manifested with stridor and one-third with recurrent chest infections. Persistent respiratory symptoms, lung atelectasis, or prolonged respiratory support requirement were clues in groups II and III. Higher morbidity and mortality in younger infants with severe obstructive airway symptoms, associated airway abnormalities, and underlying complex cyanotic CHD.
Conclusions:Vascular ring/pulmonary artery sling and abnormally enlarged or malposition cardiovascular structure were the leading causes of cardiovascular airway compression. A high index of suspicion is needed for early detection due to its non-specific presentation. The outcome often depends on the severity of airway obstruction and complexity of cardiac lesions.
Paediatric dilated cardiomyopathy with and without endocardial fibroelastosis – a pathological analysis of 89 explants
- Jeanette A. Reyes, Anne I. Dipchand, David A. Chiasson
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- Published online by Cambridge University Press:
- 06 September 2021, pp. 1041-1047
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Heart failure due to dilated cardiomyopathy is a major indication for paediatric cardiac transplantation. Endocardial fibroelastosis is a recognised pathological finding of unknown prognostic significance in paediatric dilated cardiomyopathy. To evaluate the nature of the association between left ventricular endocardial fibroelastosis and paediatric dilated cardiomyopathy, we reviewed surgical pathology reports of dilated cardiomyopathy explants (1986–2016) in order to characterise the pathological findings and to compare and contrast their frequency among four age groups: less than 1 year; 1–5 years; 6–10 years; and greater than 11 years. The 89 explants (47 males and 42 females) were all characterised by increased weight and left ventricular chamber dilatation without increased wall thickness. Ninety-five per cent of the specimens in the two youngest subsets had left ventricular endocardial fibroelastosis. Compared to the oldest age group, recipients aged 1–5 years had a 6-fold increase and those younger than 1 year a 19-fold increase in the odds of observing left ventricular endocardial fibroelastosis. Explants with and without endocardial fibroelastosis were otherwise phenotypically similar. In paediatric dilated cardiomyopathy endocardial fibroelastosis is a very common pathological finding, especially in infants and young children. We propose that the descriptive, clinico-pathological designation “Dilated Cardiomyopathy with Endocardial Fibroelastosis” should be adopted to facilitate future investigation into the potential prognostic/therapeutic significance of left ventricular endocardial fibroelastosis.
Impact of a structured patient education programme on early diagnosis of prosthetic pulmonary valve endocarditis
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- Daniela Babic, Ramona Hämmerli, Bruno Santos Lopes, Christine Attenhofer Jost, Daniel Tobler, Markus Schwerzmann, Barbara Hasse, Francesca Bonassin Tempesta, Matthias Greutmann
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- Published online by Cambridge University Press:
- 10 November 2021, pp. 1564-1569
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Background:
Infective endocarditis is a major threat after prosthetic pulmonary valve replacement. Early diagnosis may improve outcomes.
Methods:A structured patient education programme for prevention and early diagnosis of infective endocarditis was developed at our institution since 2016. Time delay between onset of symptoms of prosthetic pulmonary valve endocarditis and its diagnosis (defined as initiation of appropriate high-dose intravenous antibiotic treatment) was compared for patients presenting before (cohort 1) and after (cohort 2) initiation of the patient education programme.
Results:Between 2008–2019, 26 patients (median age 24.9, range: 16.8–62.0 years, 73% male) were diagnosed with prosthetic pulmonary valve endocarditis, 13 patients (cohort 1) before (1.7 cases/year) and 13 patients (cohort 2) after June 2016 (3.7 cases/year). There were no differences in baseline characteristics or clinical presentation between the study cohorts. Overall, the median delay between onset of symptoms and diagnosis of infective endocarditis was 6 days (range: 0–133 days) with a significantly longer delay among patients in cohort 1, compared to cohort 2 (25 days, range: 5–133 days versus 3 days, range: 0–13 days, p < 0.0001). A delay of >7 days was documented in 11/13 patients (85%) in cohort 1 as compared to 1/13 (8%) in cohort 2 (p < 0.001). Need for urgent valve replacement or permanent deterioration of prosthetic valve function was higher in cohort 1, compared to cohort 2 (11/13, 85% versus 5/13, 39%; p = 0.041).
Conclusions:Prosthetic pulmonary valve endocarditis is increasingly recognised. A structured patient education programme may improve early diagnosis and clinical outcomes.