Cardiology in the Young最新文献

{"title":"Very low-dose Everolimus therapy diminishes cardiac tumours in tuberous sclerosis complex disease.","authors":"Stefan Rupp, Christian Jux, David Backhoff","doi":"10.1017/S1047951125101650","DOIUrl":"10.1017/S1047951125101650","url":null,"abstract":"<p><p>Tuberous sclerosis complex is syndrome that affects several organs. Cardiac manifestations include rhabdomyoma, which could lead to intracardiac obstruction of blood flow. In the present case, the so far lowest documented Everolimus blood level of 2-3 ng/ml led to tumour regression. Repeated Everolimus stopping and restarting for clinical reasons serves as a proof-of-concept for Everolimus therapy in tuberous sclerosis complex.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1716-1718"},"PeriodicalIF":0.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144943873","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":"Educational experience of children living with congenital heart disease: a systematic scoping review.","authors":"Sharon E Millen, Martin Dempster, Frank Casey","doi":"10.1017/S1047951125101327","DOIUrl":"10.1017/S1047951125101327","url":null,"abstract":"<p><strong>Background: </strong>Educational experience of children with CHD is often adversely impacted by factors such as medical burden, social and school functioning challenges. It is, therefore, vitally important that adequate support is provided at an early stage in order to facilitate better educational outcomes for this cohort. The role of the teacher is pivotal in supporting the overall healthy development of a child with CHD. Thus, it is important to understand how we can also support teachers to provide optimal support to this cohort. This systematic scoping review aimed to offer a comprehensive understanding of existing research in this area and identify any knowledge gaps.</p><p><strong>Methods: </strong>The methodological framework for scoping reviews developed by Arksey and O'Malley (2005) was employed.</p><p><strong>Findings: </strong>Children with CHD face educational challenges in cognitive, psychomotor, behavioural, and affective domains and also with school attendance. The main challenges for teachers include a lack of information around CHD and how it affects the individual child. Building a strong relationship and having frequent communication between the teacher/ parent/ child were considered key in alleviating anxiety and promoting a supportive environment.</p><p><strong>Conclusions: </strong>Children with CHD often require additional support from educational professionals in the classroom. Teachers of children with CHD would benefit from condition-specific training, updated on a regular basis.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1549-1557"},"PeriodicalIF":0.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144815851","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":"Advance care planning for adolescents and young adults with congenital heart disease: the adult patient perspective.","authors":"Katherine Hansen, Christina Sillman, Caroline Scribner, Emily Dong, Beth Kaufman, Anitra Romfh, Harvey Cohen, Bonnie Halpern-Felsher, Lindsay A Edwards","doi":"10.1017/S1047951125101510","DOIUrl":"10.1017/S1047951125101510","url":null,"abstract":"<p><strong>Introduction: </strong>Although the importance of advance care planning (ACP) for individuals with adult congenital heart disease (ACHD) has been established, there is no consensus regarding the optimal age to initiate ACP discussions. We asked ACHD patients their opinions about the timing of the first ACP discussion.</p><p><strong>Materials/methods: </strong>Adult patients seen in an outpatient ACHD clinic from April to August 2018 completed a self-administered questionnaire that evaluated opinions regarding the content and timing of ACP discussions, end-of-life communication preferences, and anticipated emotional responses to ACP discussions.</p><p><strong>Results: </strong>Ninety-five patients participated. Median age was 34.8 years (Q1 - Q3: 28.4 - 47.1 years), 53% (<i>n</i> = 50) were female, and 91% (<i>n</i> = 86) had great or moderate disease complexity. Although 75% (<i>n/N</i> = 69/92) thought ACP was important, only 37% (<i>n/N</i> = 35/94) had completed advance directives. Most (79%, <i>n/N</i> = 72/91) preferred ACP conversations early, either before getting sick (44%, <i>n</i> = 40/91) or when first diagnosed with a life-threatening illness (35%, <i>n</i> = 32/91). Responses varied regarding the appropriate age for first ACP conversations: 28% (<i>n/N</i> = 25/88) chose options ≤ 15 years, 23% (<i>n/N</i> = 20/88) 16-17 years, 32% (<i>n/N</i> = 28/88) 18-20 years, and 17% (<i>n/N</i> = 15/88) ≥ 21 years old.</p><p><strong>Discussion: </strong>ACHD patients value ACP discussions and think they should occur early in the disease course, before patients face a life-threatening disease complication, yet most think these conversations should wait until later adolescent or young adult years. ACP readiness should be assessed to determine the optimal timing of ACP discussions.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1602-1608"},"PeriodicalIF":0.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144943976","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":"Evaluation and treatment of pericardial effusion in paediatric patients post-haematopoietic cell transplantation.","authors":"Josaura V Fernandez Sanchez, Saleh Bhar, Kristen Shaver, Christian Lilje, Tami John, Brian Friend, Nino Rainusso, Anitha Parthiban, Athar Qureshi, Tao Wang, Mengfen Wu, Baheyeldin Salem","doi":"10.1017/S1047951125100553","DOIUrl":"10.1017/S1047951125100553","url":null,"abstract":"<p><strong>Background: </strong>Cardiac complications after haematopoietic cell transplantation in paediatric patients are significant yet under-recognised. Pericardial effusion has been associated with worse outcomes and transplant-related mortality.</p><p><strong>Objectives: </strong>We aimed to evaluate the incidence, risk factors, and clinical course of pericardial effusion after paediatric allogeneic haematopoietic cell transplantation. We identified transplantation recipients \"at risk\" for clinically significant pericardial effusion based on our definition, described our clinical experience and provided recommendations for screening and management.</p><p><strong>Study design: </strong>Clinical data of children who underwent allogeneic haematopoietic cell transplantation at Texas Children's Hospital from January 2010 to April 2021 were analyzed retrospectively. Factors potentially contributing to time to pericardial effusion, time to pericardial effusion resolution, and overall survival were evaluated.</p><p><strong>Results: </strong>We included 629 haematopoietic cell transplantation recipients with a median age at transplantation of 8.5 years (0.1-24.3). Seventy-three patients (11.6%) developed pericardial effusion within a median time of 102 days (1-403) post-haematopoietic cell transplantation, and 50 (68.5%) had resolution of pericardial effusion at the time of last evaluation. Older age at the time of haematopoietic cell transplantation, transplant-associated thrombotic microangiopathy, and cytomegalovirus diagnoses independently increased the risk of pericardial effusion development, while cytomegalovirus diagnosis decreased the likelihood of pericardial effusion resolution. Both non-significant pericardial effusion development and clinically significant effusion development were significantly associated with post-haematopoietic cell transplantation mortality, compared to no pericardial effusion development.</p><p><strong>Conclusions: </strong>Paediatric haematopoietic cell transplantation recipients with malignant diseases, older age at the time of transplantation, cytomegalovirus infection, or transplant-associated thrombotic microangiopathy are at higher risk for pericardial effusion development, which in turn predicts worse outcomes with increased risk of death. We propose a model for improved detection, evaluation, and management of pericardial effusion post-haematopoietic cell transplantation.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1644-1653"},"PeriodicalIF":0.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144658431","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":"Kartagener's syndrome with congenital heart defect<i>-an old rare disease with a new rare face</i>.","authors":"Inês Almeida Santos, Isabel Sampaio Graça, Rui Plácido, Graça Nogueira, Rui Anjos","doi":"10.1017/S1047951125101492","DOIUrl":"10.1017/S1047951125101492","url":null,"abstract":"<p><strong>Introduction: </strong>Kartagener's syndrome is a rare subset of primary ciliary dyskinesia, a genetically heterogeneous disorder characterised by chronic sinusitis, bronchiectasis, and <i>situs inversus</i>. To our knowledge, the association of this syndrome with coarctation of the aorta (CoAo) and pulmonary hypertension (PH) has not been previously reported.</p><p><strong>Case description: </strong>We report the case of a 17-year-old female patient with <i>situs inversus</i> and CoAo surgically corrected at two months of age. At 12 years old, she developed a chronic cough, nasal congestion, and an estimated pulmonary artery systolic pressure (PASP) of 70 mmHg on echocardiography. Cardiac catheterisation revealed a pulmonary artery pressure of 58/10/24 mmHg with no gradient at the aortic isthmus. Thoracic CT scan demonstrated multiple bronchiectasis in the upper lobes bilaterally, despite normal pulmonary spirometry, plethysmography, and 24-hour oximetry. Genetic testing identified a pathogenic variant and a variant of uncertain significance of the DNAH5 gene, associated with primary ciliary dyskinesia. The patient was diagnosed with Kartagener's syndrome with PH and was started on inhaled glucocorticoids and chest physiotherapy. No episodes of pneumonia or acute bronchiectasis exacerbations were recorded. Annual lung function tests remained normal, and semiannual echocardiograms showed stable findings. A follow-up thoracic CT scan at 16 years of age revealed no progression of lung disease. At 16 years old, the patient developed significant physical activity limitation. Echocardiographic evaluation demonstrated right ventricular dilatation with reduced longitudinal function (TAPSE 15 mm, Z-score 4.4), suprasystemic PASP (120 mmHg), an eccentricity index of 2.3, normal left ventricular function, moderate pericardial effusion, and an NT-ProBNP level of 2292 pg/mL. Combined therapy targeting PH was initiated, including an endothelin receptor antagonist, a phosphodiesterase type 5 inhibitor, diuretics, and supplemental oxygen therapy. Significant clinical improvement was observed (WHO functional class IIIa to I), along with echocardiographic improvement (PASP reduced to 80 mmHg, TAPSE increased to 16 mm, resolution of pericardial effusion), and a marked decrease in NT-proBNP (171 pg/mL).</p><p><strong>Conclusions: </strong>The rapid progression of PH in this patient, despite normal lung function and unremarkable CT scan findings, is atypical for PH associated with lung disease. Extensive investigation for alternative causes of PH, including genetic testing, yielded negative results. A more aggressive treatment strategy for PH is currently being pursued.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1734-1739"},"PeriodicalIF":0.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144815854","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":"Effects of amiodarone infusion on clinical parameters in the cardiac intensive care unit: what does it do to heart rate and oxygen delivery?","authors":"Amar Ingravera, Frank Zimmerman, Rohit S Loomba","doi":"10.1017/S1047951125101030","DOIUrl":"10.1017/S1047951125101030","url":null,"abstract":"<p><strong>Background: </strong>Amiodarone is a frequently used medication in paediatric patients to manage atrial and ventricular arrhythmias, but its acute haemodynamic effects, particularly in children, remain underexplored. This retrospective, single-centre study aimed to characterise the clinical impact of amiodarone intravenous infusions on heart rate, blood pressure, oxygen delivery, and transaminase levels within the first 48 hours of amiodarone initiation in paediatric cardiac ICU patients.</p><p><strong>Methods: </strong>Single-centre, retrospective study of patients receiving amiodarone infusions, with measurements taken at baseline and at various intervals up to 48 hours after initiation. The primary outcome was the effect on heart rate, while secondary outcomes included blood pressure, arterial saturation, near-infrared spectroscopy values, central venous pressure, and transaminase levels. Several types of analysis models were employed to assess the results.</p><p><strong>Results: </strong>Data were collected from 87 paediatric patients. No significant changes in liver enzymes, blood pressure, or renal oxygen extraction were observed. These findings provide novel insights into the acute haemodynamic effects of amiodarone infusions in paediatric patients, suggesting that while amiodarone significantly lowers heart rate, it does not substantially affect oxygen delivery or necessitate increased vasoactive support.</p><p><strong>Conclusion: </strong>Amiodarone infusions are associated with a significant decrease in heart rate without greatly impacting oxygen delivery or requiring increased vasoactive support. Heart rate decreases most until a cumulative dose of 30,000 mcg/kg, and heart rate decrease is most pronounced in those with ventricular tachycardia.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1669-1675"},"PeriodicalIF":0.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144943954","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 aneurysm of the ductus arteriosus in neonates; should we be afraid?","authors":"V Doğan, İ U Sayıcı, B Kaya, Ö N Aksoy, K Sel","doi":"10.1017/S1047951125101182","DOIUrl":"10.1017/S1047951125101182","url":null,"abstract":"<p><strong>Background: </strong>Although isolated ductus arteriosus aneurysm has been reported as 0.8% in autopsy series, it has recently been reported as up to 8.8% with increased awareness. Most cases are asymptomatic and regress spontaneously. In this study, we aimed to evaluate the characteristics, clinical manifestations, and outcomes of ductus arteriosus aneurysm in neonates.</p><p><strong>Material and methods: </strong>A total of 22 newborns with echocardiographic images recorded in the hospital registry system were identified to have a ductus arteriosus aneurysm. The demographic, clinical, and echocardiographic findings of the patients were extracted from the hospital records.</p><p><strong>Results: </strong>The mean gestational age and weight at birth of the newborns were 38 ^6/7 weeks (35 ^3/7 - 40 ^6/7 weeks) and 3203 g (2445-4080 g), respectively. The maximal length and width of the aneurysm ranged from 6 to 21 mm and 5.3 to 13 mm, respectively. In three of the patients, thrombus in the aneurysm was detected on the third day of life, leading to surgical excision of thrombus and ligation of the aneurysm in two. In the remaining 19 patients, the aneurysm regressed spontaneously and closed in an average of 5.3 days.</p><p><strong>Conclusion: </strong>With increased awareness and earlier and more frequent application of echocardiography in newborns, the diagnosis of ductus arteriosus aneurysm is being reported more frequently. The most common scenario is spontaneous regression, however, it should not be forgotten that it can lead to serious complications, as reported previously. In selected cases, surgical treatment may be an option to prevent more serious or late complications, though the indications for surgical intervention remain unclear.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1690-1695"},"PeriodicalIF":0.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144815849","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":"13-year follow-up of total aortic cusp replacement for paediatric aortic valve regurgitation: a case report.","authors":"Toshi Maeda, Hiroki Ito, Keiichi Hirose","doi":"10.1017/S1047951125101480","DOIUrl":"10.1017/S1047951125101480","url":null,"abstract":"<p><p>Long-term results of total aortic cusp replacement such as the Ozaki procedure in paediatric patients have rarely been reported. We describe the 13-year follow-up of a 9-year-old boy with aortic valve regurgitation who underwent total aortic cusp replacement without the need for reintervention. His aortic valve regurgitation is mild with peak pressure gradient of 22 mmHg at the last follow-up.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1740-1742"},"PeriodicalIF":0.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144834034","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":"Determining associations between prenatal maternal mental health and social determinants of health with outcomes in children with critical CHD.","authors":"Amy Jo Lisanti, Jungwon Min, Lyla Hampton, Joanna Cole, Alexandria Budney, Alisa Burnham, Lauren Zimmerman, William Quarshie, Amanda J Shillingford, J William Gaynor","doi":"10.1017/S1047951125100772","DOIUrl":"10.1017/S1047951125100772","url":null,"abstract":"<p><p>Prenatal maternal mental health and social determinants of health may influence pregnancy, child hospitalisation, and child neurodevelopmental outcomes in critical congential heart disease (CHD). We examined 189 mother-child dyads of children born with CHD who underwent neonatal cardiac surgery and completed neurodevelopmental assessment between the ages 13 and 29 months. We used latent profile analysis to identify distinct maternal groups based on prenatal maternal mental health screening scores and individual- and neighbourhood-level social determinants of health factors. We examined the association between maternal groups with their child's gestational age, birth weight, hospital length of stay (HLOS), and neurodevelopment. Latent profile analysis identified two distinct groups: high-risk (<i>n</i> = 46) and low-risk (<i>n</i> = 143). Mothers in the high-risk group had higher mental health screening scores, lower age, higher social vulnerability, lower education, and were more likely to have Medicaid insurance and represent a minority group than mothers in the low-risk group. The high-risk group had children with lower gestational age and weight at birth, longer HLOS, and lower cognitive, language, and motor scales than children in the low-risk group (<i>p</i> < 0.05). Sensitivity analysis in mother-infant dyads without foetal extracardiac conditions found that significant relationships persisted in the high-risk group, with lower gestational age and lower language scale scores than the low-risk group <i>(p</i> < 0.05). Children of mothers with adverse prenatal maternal mental health and social determinants of health risks had significantly worse pregnancy and child outcomes. Interventions are critically needed to address maternal mental health and social determinants of health risks beginning in the prenatal period.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1654-1662"},"PeriodicalIF":0.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144815850","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":"Life-saving stepwise management of pulmonary hypertension in an infant with Down syndrome presenting with a large patent ductus arteriosus and giant hepatic arteriovenous malformation.","authors":"Emine Gulsah Torun, Nevin Özdemiroğlu, Velihan Çayhan, İbrahim Ece","doi":"10.1017/S1047951125101662","DOIUrl":"10.1017/S1047951125101662","url":null,"abstract":"<p><p>We report a rare case of a 3-month-old male infant with Down syndrome, severe pulmonary arterial hypertension (a large patent ductus arteriosus, an atrial septal defect, and a giant hepatic arteriovenous malformation). Initial treatment involved hepatic arteriovenous malformation embolisation using 17 Azur® CX Peripheral Coils, resulting in clinical improvement. However, persistent pulmonary arterial hypertension led to patent ductus arteriosus closure using an 8-mm Lifetech Cera™ vascular plug after a successful balloon occlusion test. Post-intervention, the patient showed symptomatic relief, reduced right ventricular overload, and atrial septal defect shunting shifted to left to right. This is the first reported paediatric case combining these features successfully managed through a multidisciplinary and stepwise treatment approach, eliminating the need for liver transplantation.</p>","PeriodicalId":9435,"journal":{"name":"Cardiology in the Young","volume":" ","pages":"1730-1733"},"PeriodicalIF":0.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144871615","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}