Cardiology in the Young最新文献

{"title":"Effect of standard intravenous immunoglobulin therapy on Kawasaki disease predicted by long non-coding ribonucleic acid small nucleolar RNA host gene 5 and microRNA-27a.","authors":"Shangming Chen, Haiying Huang","doi":"10.1017/S1047951125001611","DOIUrl":"https://doi.org/10.1017/S1047951125001611","url":null,"abstract":"<p><strong>Background: </strong>Kawasaki disease, an acute systemic small- and medium-vessel vasculitis, is mostly detected in children under 5 years old.</p><p><strong>Objective: </strong>We aimed to explore the predictive value of long non-coding ribonucleic acid small nucleolar RNA host gene 5 (SNHG5) and microRNA (miRNA)-27a for the effect of standard intravenous immunoglobulintherapy on children with Kawasaki disease.</p><p><strong>Methods: </strong>The study included 182 children undergoing standard intravenous immunoglobulin therapy for Kawasaki disease and another 182 healthy children receiving physical examinations as a control group. LncRNA SNHG5 and miRNA-27a expression levels were determined at admission.</p><p><strong>Results: </strong>The ineffective group had higher levels of interleukin-6, C-reactive protein, procalcitonin, lncRNA SNHG5, and miRNA-27a and Kobayashi score than those of the effective group (<i>P</i> < 0.05). Multivariate regression analysis showed that Kobayashi score, interleukin-6, C-reactive protein, procalcitonin, lncRNA SNHG5, and miRNA-27a were associated with the treatment outcomes (<i>P</i> < 0.05). LncRNA SNHG5 and miRNA-27a levels were positively correlated with Kobayashi score, interleukin-6, receiver operating characteristic and procalcitonin levels (<i>r</i> > 0, <i>P</i> < 0.05). High Kobayashi score and levels of interleukin-6, c-reactive roe, procalcitonin, lncRNA SNHG5, and miRNA-27a were influencing factors for treatment failure (odds ratio > 1, <i>P</i> < 0.05). The areas under the curves of lncRNA SNHG5, miRNA-27a, and their combination were 0.757, 0.766, and 0.831, respectively.</p><p><strong>Conclusion: </strong>LncRNA SNHG5 and miRNA-27a are highly expressed in children with Kawasaki disease, and their levels are closely correlated with the efficacy of standard immunoglobulin therapy.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1-7"},"PeriodicalIF":0.9,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143964280","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sudden cardiac death in an adolescent with unusual coronary artery anomaly.","authors":"M Holtrup, L Hernandez, M Diamond","doi":"10.1017/S1047951125001519","DOIUrl":"https://doi.org/10.1017/S1047951125001519","url":null,"abstract":"<p><p>A case of an adolescent male with hypoplastic coronary arteries and myocardial bridging who had a sudden cardiac death event playing soccer. This rare anomaly is not easily identified and may be missed during routine work-up. Treatment options are limited and there is a need for discussion of additional treatment considerations that may prevent sudden cardiac death in this population.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1-3"},"PeriodicalIF":0.9,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143978701","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Implementation of a multiphase, multi-institutional QI initiative to optimise sedation practices in cardiac ICU patients.","authors":"Richard U Garcia, Kimberly DiMaria, Jamie Penk, Sherrill Caprarola, Amy Romer, Michael P Fundora, Deborah U Frank, Barbara-Jo Achuff","doi":"10.1017/S104795112500160X","DOIUrl":"https://doi.org/10.1017/S104795112500160X","url":null,"abstract":"<p><strong>Introduction: </strong>There is wide variation in institutional sedation strategies in paediatric cardiac ICU. Validated tools such as State Behavioral Scale and Richmond Agitation Sedation Scale were created to help standardise sedation practices.</p><p><strong>Methods: </strong>This is a multi-phase, multicentre, prospective project with the goal of optimising safety and comfort for paediatric cardiac ICU patients. Phase one consisted of an educational intervention with a self-paced, web-based video module on optimal sedation practices using validated sedation screening tools. Participant knowledge was assessed via a de-identified, unmatched pre- and post-test survey. Survey scores were reported as an aggregate average score and compared using a t-test.</p><p><strong>Results: </strong>There were 259 pre-tests, and 142 post-tests collected during the video-assisted educational intervention. There was a significant increase in mean score on the post-test compared to the pre-test for both instruments: from 4 to 4.8/10 for State Behavioral Scale (<i>p</i> = 0.01) and from 4.5 to 4.9 for Richmond Agitation Sedation Scale (<i>p</i> = 0.04). 81% of respondents who completed the Richmond Agitation Sedation Scale post-test and 88.1% of those who completed the State Behavioral Scale post-test said their practice would change based on the new knowledge acquired.</p><p><strong>Conclusion: </strong>We report that our newly developed learning module intervention was effective in increasing short-term knowledge about optimal sedation and sedation scoring. Ongoing phase two efforts include evaluation of long-term compliance of validated sedation screening tools and developing an objective score to measure individual cumulative opioid dosing in the cardiac critical care unit.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1-3"},"PeriodicalIF":0.9,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143977746","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Noncompaction and dilated cardiomyopathy in carvajal syndrome.","authors":"Demet Tosun, Nihal Akçay, İlyas Bingöl, Damla Gökçeer Akbulut","doi":"10.1017/S1047951125001532","DOIUrl":"https://doi.org/10.1017/S1047951125001532","url":null,"abstract":"<p><strong>Introduction: </strong>Carvajal syndrome, a rare autosomal recessive disorder caused by mutations in the <i>DSP</i> gene, is characterised by woolly hair, palmoplantar keratoderma, and left ventricular dilated cardiomyopathy. Although less frequently reported, noncompaction cardiomyopathy can co-occur, further complicating the clinical picture. Early diagnosis and management are crucial due to the high risk of progressive heart failure and sudden cardiac death in affected individuals.</p><p><strong>Case report: </strong>A 13-year-old male with autism presented with a 1.5-month history of persistent cough and worsening clinical symptoms, including hepatomegaly and signs of heart failure. Physical examination revealed woolly hair, patchy alopecia, nail anomalies, and ectodermal dysplasia. Echocardiography demonstrated left ventricular dilated cardiomyopathy, noncompaction, and a severely reduced ejection fraction of 23%. Initial management in the paediatric intensive care unit included inotropic support, diuretics, and beta-blockers. Genetic analysis confirmed a homozygous c.7912G > T nonsense variant in the <i>DSP</i> gene, establishing the diagnosis of Carvajal syndrome. The patient was referred to an advanced cardiac centre.</p><p><strong>Discussion: </strong>Carvajal syndrome involves multisystem manifestations, with prominent dermatologic and cardiovascular features. Unlike Naxos disease, which primarily affects the right ventricle, Carvajal syndrome predominantly involves the left ventricle, as observed in this case. Notably, left ventricular noncompaction was a striking feature in our patient, further exacerbating cardiac dysfunction and complicating the clinical course. Although noncompaction cardiomyopathy is less frequently reported in Carvajal syndrome, its pronounced presence in this case underscores the phenotypic variability and severity of myocardial involvement. Intensive care management with a multidisciplinary approach was essential in stabilising this patient. Genetic testing confirmed the diagnosis and highlighted the importance of molecular diagnostics in differentiating cardiocutaneous syndromes.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1-3"},"PeriodicalIF":0.9,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143972534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Aortic root dilatation and mitral valve prolapse in three siblings with dental anomalies and short stature syndrome due to a homozygous novel <i>LTBP3</i> variant.","authors":"Bilgehan Betül Biçer, Hayrettin Hakan Aykan, Merve Soğukpınar, Pelin Özlem Şimşek Kiper","doi":"10.1017/S1047951125001520","DOIUrl":"https://doi.org/10.1017/S1047951125001520","url":null,"abstract":"<p><p>The latent transforming growth factor-beta-binding protein 3 (<i>LTBP3)</i>, which encodes one of the extracellular matrix proteins, plays an essential role in skeletal formation through both stimulatory and inhibitory effects on the growth of different cell types, as well as on the production and degradation of the extracellular matrix. Pathogenic variants in <i>LTBP3</i> have been associated with genetic skeletal disorders that exhibit various cardiovascular features, including aortic root dilatation, aneurysm or dissection of the ascending and descending aorta, and mitral valve prolapse). Aortic root dilatation, an aortopathy that may have lifethreatening consequences, is among the clinical findings in various connective tissue disorders, including Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. Aortic root dilatation, aneurysm, and aortic dissection should be carefully investigated by cardiologists. In this study, we describe three siblings with short stature and dental anomalies. A homozygous, novel, c.2726-1G > A pathogenic variant in <i>LTBP3</i> was identified through exome sequencing. After the detection of the <i>LTBP3</i> variant, the patients were evaluated for possible cardiac findings, which revealed mitral valve prolapse and aortic root dilatation despite the absence of clinical symptoms. In this study, we aimed to shed light on the diagnosis of dental anomalies and short tature syndrome in three siblings with a novel <i>LTBP3</i> pathogenic variant revealed through exome sequencing. Additionally, we emphasise the importance of searching for cardiac findings, even in the absence of clinical symptoms. We highly suggest that cardiologists take note of cardiac findings in patients with dental anomalies and short stature syndrome.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1-5"},"PeriodicalIF":0.9,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143959235","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Head circumference in neonates with septal defects.","authors":"Line Høffner, Anna Maria Dehn, Sofie Dannesbo, Elisabeth Blixenkrone-Møller, Louise Lind, Anna Axelsson Raja, Anne-Sophie Sillesen, Christian Pihl, Marie Maagaard, Niels Grove Vejlstrup, Kasper Iversen, Henning Bundgaard, Vibeke Hjortdal","doi":"10.1017/S1047951125001453","DOIUrl":"https://doi.org/10.1017/S1047951125001453","url":null,"abstract":"<p><strong>Background: </strong>Neurodevelopmental disorders occur in up to 50% of children with CHD. Small head circumference at birth has been associated with impaired neurodevelopment in patients with complex CHD. It is unknown if patients with simple CHD such as septal defects have smaller head circumferences. The objective of this study was to investigate the head circumference at birth in neonates with either an atrial or a ventricular septal defect.</p><p><strong>Methods: </strong>This study is part of the Copenhagen Baby Heart Study; a prospective, population-based cohort study of more than 25,000 neonates. The neonates were examined with a comprehensive transthoracic echocardiography within the first 30 days of birth including assessment for atrial or ventricular septal defects. The head circumference at birth in term neonates with septal defects was compared to the head circumference in matched controls, term neonates without septal defects from the same birth cohort.</p><p><strong>Results: </strong>Neonates with septal defects (<i>n</i> = 1,030; 45.2% male; mean birthweight 3,534g ± 483g) had a mean head circumference of 34.8 cm (95% confidence interval 34.7-34.9 cm), compared to neonates without septal defects (<i>n</i> = 5,150; 45.6% male; mean birthweight 3,546g ± 476g) of 34.7 cm (95% confidence interval 34.7-34.8 cm); <i>p</i>-value 0.07. Mean calculated <i>z</i>-score of head circumferences was 0.05 for neonates with septal defects and -0.01 for neonates without septal defects, <i>p</i> = 0.07. Dividing cases into neonates with atrial septal defects, ventricular septal defects, and those without septal defects did not show differences between groups, <i>p</i> = 0.14.</p><p><strong>Conclusion: </strong>The head circumference in term neonates with septal defects did not differ from matched controls without septal defects.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1-6"},"PeriodicalIF":0.9,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143984380","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Potential role of targeted echocardiography as a screening test for select diagnoses in the paediatric population: bicuspid aortic valve and left ventricular hypertrophy.","authors":"Christina Yang, Lindsay A Edwards, Margaret M Vernon, Jeffrey Conwell, Sujatha Buddhe","doi":"10.1017/S1047951125001490","DOIUrl":"https://doi.org/10.1017/S1047951125001490","url":null,"abstract":"<p><strong>Objective: </strong>We explore the role of targeted echocardiography as a screening tool for bicuspid aortic valve and left ventricular hypertrophy, specifically assessing the risk of missing significant cardiac findings that would otherwise be identified by comprehensive echocardiograms.</p><p><strong>Method: </strong>Children < 18 years at initial echocardiogram for indications of \"family history of bicuspid aortic valve\" and \"left ventricular hypertrophy on electrocardiogram\" were queried. Cardiology clinic notes and complete echocardiogram reports were reviewed for additional background histories and incidental findings. Follow-up clinic visits, if any, and management for those with incidental findings were reviewed.</p><p><strong>Results: </strong>Bicuspid aortic valve group included 138 patients, 71 (51%) males and mean age at comprehensive echo was 8.4 ± 4.8 years. Bicuspid aortic valve was found in 3.6%, incidental findings were found in 15 (11%), and follow-up was recommended in 4 (2.8%). Left ventricular hypertrophy group included 70 patients, 58 (83%) males and mean age at echo 10.9 ± 4.7 years. Left ventricular hypertrophy was found in 2.8%, incidental findings were found in 9 (13%), and follow-up was recommended in 2 (2.8%).None of the follow-up group developed symptoms or required cardiac medications, exercise restrictions, or catheter or surgical-based interventions, except for one case of mild aortic root dilation who was restricted from heavy weightlifting.</p><p><strong>Conclusion: </strong>The risk of missing clinically important findings with targeted echocardiography that would have been identified with comprehensive echocardiography is extremely low for screening indications of isolated left ventricular hypertrophy on electrocardiogram or family history of bicuspid aortic valve, suggesting that targeted echocardiography could be an effective screening tool.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1-5"},"PeriodicalIF":0.9,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143966420","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Congenital Heart Disease transition practices in the United States: a survey of adult Congenital Heart Disease programs.","authors":"Debora Burger, Reem Hasan, Patrick D Evers, Andrew W McHill, Corina Thomet, Philip Moons, Quin E Denfeld","doi":"10.1017/S1047951125001489","DOIUrl":"https://doi.org/10.1017/S1047951125001489","url":null,"abstract":"<p><strong>Background: </strong>International organisations recommend that patients with CHD undergo a structured transition process to prepare for lifelong cardiac care. However, there is a limited understanding of current transition practices in the United States (U.S.) from the perspective of adult CHD programs. The purpose of this study was to characterise adult CHD transition practices across the U.S.</p><p><strong>Method: </strong>We conducted a descriptive, cross-sectional survey of adult CHD programs in the U.S., inquiring about transition practices (preparation, transfer, and integration), resources, specialists, and barriers. We used descriptive statistics to analyse the data.</p><p><strong>Results: </strong>We analysed responses from 38 adult CHD programs (37% response rate). Among these, 25 (66%) of adult CHD programs reported formal transition programs and 26 (68%) reported having a transfer process to receive patients from paediatric cardiology. Reported transition program specialists were interdisciplinary. Few programs reported having psychologists or psychiatrists on their teams or offered support for patients with intellectual disability. The main barriers affecting transition were insurance and health care costs.</p><p><strong>Conclusion: </strong>Around two-thirds of respondent adult CHD programs reported the presence of formal transition programs. More resources may be needed within these programmes to support patient psychological well-being and those with intellectual disability and to address barriers related to insurance and health care costs.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1-7"},"PeriodicalIF":0.9,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143978700","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"3D printed heart models assist in pre-procedural planning of the innominate vein to pulmonary venous atrium redirection (Hraska / Rome procedures).","authors":"Ross Foley, Kevin Walsh, Jonathan J Rome, Jonathan McGuinness, Liam Morris, Eoin O'Cearbhaill, Colin J McMahon","doi":"10.1017/S1047951125001507","DOIUrl":"https://doi.org/10.1017/S1047951125001507","url":null,"abstract":"<p><p>Innominate vein redirection to the pulmonary venous atrium has been used in single ventricle patients in order to relieve lymphatic complications resulting from systemic venous hypertension. This has been achieved both surgically, known as the Hraska procedure and via transcatheter approach, known as the Rome procedure. Determining the pathway from the innominate vein to the pulmonary venous atrium is challenging with important intra- and extra-cardiac structures close-by. We present two cases; one surgical and one transcatheter approach, where 3D-printed cardiac models were used to assist in the pre-procedural planning of this relatively novel and challenging strategy.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1-4"},"PeriodicalIF":0.9,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143962000","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Protein-losing enteropathy after fontan surgery: insights from Vietnamese clinical experience and the need for global collaboration.","authors":"Dai Dac Tran, Tien Anh Do, Huy Quang Bui, Thanh Ngoc Le, Long Hoang Vo","doi":"10.1017/S1047951125001581","DOIUrl":"https://doi.org/10.1017/S1047951125001581","url":null,"abstract":"<p><p>Protein-losing enteropathy remains a formidable and underrecognised complication following Fontan surgery, contributing significantly to morbidity and mortality among affected patients. Despite substantial progress in managing single-ventricle CHDs, protein-losing enteropathy persists as a major clinical challenge, particularly in resource-constrained environments where specialised diagnostic modalities are scarce. This manuscript discusses the prevalence, clinical presentation, diagnostic hurdles, and management of protein-losing enteropathy in post-Fontan patients, drawing from clinical experiences in Vietnam. Among 95 post-Fontan patients reviewed, the prevalence of protein-losing enteropathy was 4.2%, with considerable morbidity necessitating invasive interventions and, in some cases, resulting in mortality. Diagnostic limitations, including restricted access to alpha-1-antitrypsin clearance testing, highlight the urgent need for heightened clinical suspicion and pragmatic diagnostic approaches. We advocate for integrating low-cost, widely accessible screening measures, such as routine serum protein monitoring, into standard post-Fontan care protocols to enhance early detection and management of protein-losing enteropathy. Furthermore, we underscore the critical importance of global collaboration and multicentre research initiatives to address the worldwide burden of protein-losing enteropathy, facilitate resource-sharing, and develop evidence-based interventions. Coordinated international efforts are essential to closing diagnostic and treatment gaps, ultimately improving survival and quality of life for patients living with the Fontan circulation.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1-5"},"PeriodicalIF":0.9,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143964242","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}