Cardiology in the Young最新文献

{"title":"Adverse events and ICU readmission rates after floor transfer for paediatric patients on ventricular assist device support.","authors":"Kari A Phillips, August Brennan, Michael Profsky, Gregory T Hadfield, Brandon W Kirkland, Caroline Heyrend, Eric R Griffiths, Lindsay J May, Michelle S Ploutz","doi":"10.1017/S1047951125001234","DOIUrl":"10.1017/S1047951125001234","url":null,"abstract":"<p><p>Paediatric ventricular assist device patients, including those with single ventricle anatomy, are increasingly managed outside of the ICU. We used retrospective chart review of our single centre experience to quantify adverse event rates and ICU readmissions for 22 complex paediatric patients on ventricular assist device support (15 two ventricles, 7 single ventricle) after floor transfer. The median age was 1.65 years. The majority utilised the Berlin EXCOR (17, 77.3%). There were 9 ICU readmissions with median length of stay of 2 days. Adverse events were noted in 9 patients (41%), with infection being most common (1.8 events per patient year). There were no deaths. Single ventricle patients had a higher proportion of ICU readmission and adverse events. ICU readmission rates were low, and adverse event rates were comparable to published rates suggesting ventricular assist device patients can be safely managed on the floor.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"926-930"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143728709","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":"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":"1073-1075"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","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":"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":"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":"1057-1061"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","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}

{"title":"Investigating the possible connection between cystic hygroma, nuchal translucency, and the genetic link underlying cardiac lymphatic abnormalities and congenital heart disease: is there an association?","authors":"Marios Loukas, Ishank Gupta, Brenna Wilson, Shamfa Joseph, Rachel Levene, Michael Montalbano","doi":"10.1017/S1047951125001404","DOIUrl":"10.1017/S1047951125001404","url":null,"abstract":"<p><p>Although a direct link between cardiac lymphatics and congenital heart disease (CHD) has not been established, research indicates that abnormalities in the cardiac lymphatic system are involved in several congenital disorders that present with cardiac defects. However, this contribution remains poorly understood and is still an emerging area of study. One theory proposes that abnormal lymphatic development, which can present as cystic hygroma or increased nuchal translucency, may give rise to heart defects such as coarctation of the aorta, hypoplastic left heart syndrome, or bicuspid aortic valves. The genetic pathways for the development of the cardiac lymphatic system and the heart's major vessels may overlap; therefore, mutations in these genes could result in simultaneous defects in both systems. The close anatomical proximity between cardiac lymphatics and the great vessels of the heart suggests a \"cause and effect\" relationship, where an abnormality in one could affect the other and lead to congenital defects. Given that congenital heart disease is the most common birth defect in the United States, this systematic review, following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, seeks to explore the potential link between cardiac lymphatics and CHD. Understanding this connection could have significant clinical implications by paving the way for new diagnostic approaches and therapeutic strategies for CHDs.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"931-937"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143794608","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":"Characteristics and postoperational outcomes in paediatric patients with coronary sinus septal defect: a retrospective cohort study.","authors":"Chengcheng Pang, Huimin Wang, Junjun Shen, Liuqing Yang, Jianglin Li, Hui Liu, Wei Pan, Zhiwei Zhang","doi":"10.1017/S1047951125000101","DOIUrl":"10.1017/S1047951125000101","url":null,"abstract":"<p><strong>Objective: </strong>To summarise the characteristics and postoperative outcomes in paediatric patients with coronary sinus septal defect.</p><p><strong>Method: </strong>This retrospective study recruited paediatric patients diagnosed with coronary sinus septal defect from the Guangdong Cardiovascular Institute between 2011 and 2023. Clinical characteristics, echocardiographic parameters, surgical procedures, and postoperative outcomes were collected from electronic health records.</p><p><strong>Results: </strong>Among the 68 patients, 50% were male, with a median age of 1.0 years. Four cases (5.9%) were diagnosed during the prenatal period. The proportions of patients with type I, II, III, and IV coronary sinus septal defect were 51.5%, 5.9%, 16.1%, and 26.5%, respectively. The most common coexisting cardiac anomalies were persistent left superior caval vein. Twenty-seven cases were either missed or misdiagnosed by echocardiogram, accounting for 39.7% of the overall cases, with type I being the most frequently missed diagnosis. Fifty-four patients underwent surgery, two patients received transcutaneous intervention, while the remaining patients did not undergo any surgery or intervention. At follow-up, two patients with type I coronary sinus septal defect died from multiorgan dysfunction, and one patient underwent reoperation due to narrowing of the extracardiac tunnel. The remaining patients did not experience any major events and recovered well.</p><p><strong>Conclusion: </strong>Paediatric patients with coronary sinus septal defect often do not exhibit specific clinical manifestations. Enhancing our understanding of the anatomic and haemodynamic characteristics of coronary sinus septal defect can improve the diagnostic accuracy of echocardiography. If diagnosis is suspected, confirmation can be obtained by cardiac CT and cardiac magnetic resonance. Accurate preoperative and intraoperative diagnosis of coronary sinus septal defect contributes to high surgical success rates and favourable treatment outcomes.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"944-952"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143708699","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":"Transthoracic intracardiac line use and complications in the paediatric single ventricle population.","authors":"Nina Zook, Justin Kochanski, Shilpa Vellore Govardhan, John Nigro, Meredith Ray, Pilar Anton-Martin","doi":"10.1017/S1047951125001623","DOIUrl":"10.1017/S1047951125001623","url":null,"abstract":"<p><p>Transthoracic intracardiac lines provide a unique access point for postoperative monitoring and management in paediatric cardiothoracic surgeries, particularly within the single ventricle population where preserving vasculature is crucial for future interventions. This retrospective review examined paediatric single ventricle patients undergoing cardiothoracic surgeries at a tertiary children's hospital between 2011 and 2018, focusing on the use of and factors associated with transthoracic line complications (infection, thrombosis, malfunction, and migration). A total of 338 lines were placed during the study period, with the majority occurring during palliative surgeries (86.5%). Lines remained in place for a median of 14 days postoperatively. Complications occurred in 21 lines (6.2%), comprising 8 migrations (2.4%), 7 thrombosis (2.1%), 4 malfunctions (1.2%), and 2 infections (0.6%). The presence of a surgical shunt was significantly associated with line complications (odds ratio 2.58, confidence interval 1.05 - 6.31; <i>P</i> 0.03). The use of transthoracic intracardiac lines seems to be safe and should be considered as a primary alternative to other central lines in the single ventricle population. A prospective assessment of transthoracic line complications, along with delineation of unit protocols, may further enhance outcomes in this complex population.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"958-963"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143954642","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":"Delayed cerebral metastases after left-atrial myxoma resection in a child.","authors":"Siming Liu, Fangbao Ding, Jiaquan Zhu","doi":"10.1017/S1047951125001659","DOIUrl":"10.1017/S1047951125001659","url":null,"abstract":"<p><p>Atrial myxoma in children is rare, with vision loss and cerebral metastasis seldom reported. We present the case of a 12-year-old girl who experienced sudden vision loss and acute infarction, with a left atrial myxoma identified and surgically resected. One year later, she was readmitted with severe neurological symptoms. Imaging revealed multiple hypometabolic brain lesions, which were confirmed as metastatic myxoma through surgical resection and pathology. This case underscores the critical need for long-term follow-up in patients with cardiac myxoma to monitor potential delayed neurological complications.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1088-1091"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144092882","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":"Recommendations for the training and practice of fetal cardiology from the Association of European Paediatric Cardiology (AEPC) - ERRATUM.","authors":"Joanna H Dangel, Sally-Ann Clur, Gurleen Sharland, Ulrike Herberg","doi":"10.1017/S1047951125001325","DOIUrl":"10.1017/S1047951125001325","url":null,"abstract":"","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":"35 5","pages":"1092"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144332488","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":"A \"hybrid\" approach to total anomalous pulmonary venous return repair.","authors":"Sofia Rito, Diogo Faim, Patrícia Vaz Silva, Pedro Correia, David La Plaza, António Pires","doi":"10.1017/S1047951125001258","DOIUrl":"10.1017/S1047951125001258","url":null,"abstract":"<p><p>Total anomalous pulmonary venous return is a rare CHD that may present in the neonatal period with signs of congestive cardiac failure. First-line treatment is corrective surgery in the first months of life. The authors report the case of a 2-month-old infant with non-obstructive total anomalous pulmonary venous return submitted to a two-stage hybrid repair, involving cardiac surgery and interventional cardiology.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1062-1065"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143669200","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":"Mitral annular disjunction versus myocardial Ischemia in coronary artery anomalies.","authors":"Vincent Bui, Silvana Molossi, Lindsay F Eilers, Shagun Sachdeva, Tam T Doan","doi":"10.1017/S1047951125001465","DOIUrl":"10.1017/S1047951125001465","url":null,"abstract":"<p><p>Both mitral annular disjunction and coronary artery anomalies are associated with ventricular arrhythmia, though data on their co-occurrence are limited. We herein present two patients with anomalous aortic origin of a coronary artery and mitral annular disjunction who had ventricular arrhythmia. Mitral annular disjunction should be considered as a potential cause of ventricular arrhythmia when stress tests rule out ischaemia.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1054-1056"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143762901","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}