PROGRESS IN PEDIATRIC CARDIOLOGY最新文献

{"title":"A de novo FBN1 missense variant associated with a severe phenotype of early onset Marfan syndrome","authors":"Sara Markholt ,&nbsp;Jens Skaerbaek ,&nbsp;Kim Munk ,&nbsp;Brian N. Andersen ,&nbsp;Dorte L. Lilballe ,&nbsp;Jenny Blechingberg ,&nbsp;Jesper P. Petersen ,&nbsp;Jesper V. Bjerre ,&nbsp;Pernille A. Gregersen ,&nbsp;Kasper J. Kyng","doi":"10.1016/j.ppedcard.2024.101751","DOIUrl":"10.1016/j.ppedcard.2024.101751","url":null,"abstract":"<div><p>Early-onset Marfan syndrome is a rare subtype of Marfan Syndrome (MFS), manifesting early in life. Affected individuals typically present with a severe phenotype, with critical signs and symptoms as early as the neonatal or infantile period, most often due to a <em>de novo</em> pathogenic <em>FBN1</em> variant. We describe a patient with a rare <em>de novo</em> missense variant c.3284G&gt;C (p.(Cys1095Ser)) in exon 27 in <em>FBN1</em> leading to early onset MFS with severe cardiovascular involvement including heart enlargement with regurgitation of both atrioventricular valves, aortic dilatation and regurgitation manifest from birth, with a fatal outcome.</p></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":"75 ","pages":"Article 101751"},"PeriodicalIF":0.6,"publicationDate":"2024-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1058981324000493/pdfft?md5=e26303f111c9d5b310bd45292b186d98&pid=1-s2.0-S1058981324000493-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142147675","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Closure of an intrahepatic porto-systemic shunt in a newborn with hypoglycemia, hyperammonemia, and hyperbilirubinemia","authors":"Kencie Ely ,&nbsp;Alvaro Galindo ,&nbsp;Humberto Restrepo ,&nbsp;Abraham Rothman","doi":"10.1016/j.ppedcard.2024.101752","DOIUrl":"10.1016/j.ppedcard.2024.101752","url":null,"abstract":"<div><p>A newborn with hypoglycemia was transferred to the neonatal intensive care unit. An elevated bilirubin level prompted an abdominal ultrasound, which revealed a large portosystemic shunt. Due to persistent hypoglycemia, hyperammonemia, and hyperbilirubinemia for 3 weeks, the patient was taken to cardiac catheterization, where the portosystemic shunt was closed with an Amplatzer Vascular Plug IV. The patient's metabolic abnormalities abated. He remained asymptomatic 12 months after the procedure.</p></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":"75 ","pages":"Article 101752"},"PeriodicalIF":0.6,"publicationDate":"2024-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142147676","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"ECG findings are poor predictors for adverse events and cardiac death in Barth syndrome","authors":"Alexander Hutchinson,&nbsp;Carolyn L. Taylor,&nbsp;Shahryar M. Chowdhury,&nbsp;Lanier Jackson","doi":"10.1016/j.ppedcard.2024.101750","DOIUrl":"10.1016/j.ppedcard.2024.101750","url":null,"abstract":"<div><h3>Background</h3><p>Patients with Barth syndrome (BTHS) can present with cardiomyopathy. BTHS subjects are at risk for cardiac adverse outcomes throughout life, including malignant arrhythmias and death. Electrocardiogram (ECG) parameters have never been assessed as a tool to predict adverse outcomes in individuals with BTHS.</p></div><div><h3>Objectives</h3><p>The purpose of this study was to identify any ECG parameters, including QRS fragmentation, presence of arrhythmia, or abnormal intervals, that could predict adverse outcomes and cardiac death among the BTHS population.</p></div><div><h3>Methods</h3><p>We performed a retrospective case referent study on subjects with BTHS (<em>n</em> = 43) and compared them with our reference group, subjects with idiopathic dilated cardiomyopathy (DCM) from a single institution (<em>n</em> = 53) from 2007 to 2021. BTHS data was obtained from subjects attending the biennial Barth Syndrome Foundation International Scientific, Medical, and Family Conferences (BSFISMFC) from 2002 to 2018. ECG data from the first and last available ECGs prior to an adverse event or cardiac death was analyzed. Then, multivariable regression was performed to determine odd ratios between ECG characteristics and adverse events/cardiac death.</p></div><div><h3>Results</h3><p>No ECG variables were statistically significant predictors of adverse events or cardiac death in the BTHS group. Last ECG QRS fragmentation trended to statistically significance (OR 13.3, <em>p</em> = 0.12) in predicting adverse events in the DCM group.</p></div><div><h3>Conclusion</h3><p>No ECG parameters, including QRS fragmentation, presence of arrhythmia, or abnormal interval values, predict adverse events or cardiac death among BTHS patients. QRS fragmentation may be a predictor of adverse events in the DCM population.</p></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":"75 ","pages":"Article 101750"},"PeriodicalIF":0.6,"publicationDate":"2024-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142147674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Surgery for the right vertical infra-axillary thoracotomy in treatment of outlet ventricular septal defect in children","authors":"Hoang Duy Chiem,&nbsp;Manh Dien Truong,&nbsp;Quoc Tuong Duong,&nbsp;Phi Duong Nguyen,&nbsp;Buu Linh Tran,&nbsp;Kinh Bang Nguyen","doi":"10.1016/j.ppedcard.2024.101749","DOIUrl":"10.1016/j.ppedcard.2024.101749","url":null,"abstract":"<div><h3>Background</h3><p>Outlet ventricular septal defect is often associated with aortic valve regurgitation. Early intervention in these subjects is essential to avoid complications of irreversible aortic valve regurgitation after surgery.</p></div><div><h3>Objective</h3><p>This study aims to evaluate the safety and feasibility of right vertical infra-axillary thoracotomy for the treatment of outlet ventricular septal defect in pediatric patients.</p></div><div><h3>Methods</h3><p>This report includes data from 39 pediatric patients who underwent right vertical infra-axillary thoracotomy from January 2020 to April 2023. The ventricular septal defect was approached via the pulmonary artery and closed using autologous or bovine pericardium. Intraoperative management of associated lesions included tricuspid valve repair, widening of the right ventricular outflow tract with excision of jet lesions, and ligation of the ductus arteriosus.</p></div><div><h3>Results</h3><p>The average weight of the pediatric patients was 8.4 ± 6 kg, with the average age at intervention being 17.1 months. Approximately 50 % of the patients exhibited signs of heart failure preoperatively, and in 38.5 % of cases, the defect was located beneath the two great arteries. The mean durations for extracorporeal circulation and cardioplegia were 113.5 ± 22 min and 70.3 ± 17 min, respectively. There were no postoperative deaths, and no patient required conversion to an alternative surgical approach. The average duration of mechanical ventilation was 17.6 ± 20.7 h, and the postoperative hospital stay averaged 6.8 ± 2.2 days. Follow-up was conducted in all patients, with an average duration of 17.4 months. There was one case of mild residual shunt, one case requiring re-intervention for aortic valve regurgitation, and one case of elevated shoulder blade due to damage to the long thoracic nerve. No instances of mammary asymmetry were observed.</p></div><div><h3>Conclusion</h3><p>Right vertical infra-axillary thoracotomy is a safe and feasible alternative for the treatment of outlet ventricular septal defect in children. Further studies across multiple centers are recommended to assess the efficacy of this approach.</p></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":"75 ","pages":"Article 101749"},"PeriodicalIF":0.6,"publicationDate":"2024-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142012176","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patient-specific computational fluid dynamic modeling accurately predicts systolic pressure gradients across stenotic right ventricular outflow tracts","authors":"Michael J. Shorofsky ,&nbsp;Xuanming Zhao ,&nbsp;Michael C. Spaeder ,&nbsp;D. Scott Lim ,&nbsp;Haibo Dong ,&nbsp;Michael R. Hainstock","doi":"10.1016/j.ppedcard.2024.101747","DOIUrl":"10.1016/j.ppedcard.2024.101747","url":null,"abstract":"<div><h3>Background</h3><p>Transcatheter options for interventions on stenotic right ventricular outflow tracts have become the standard of care for many individuals. Determining which patients should have interventions uses a combination of echocardiography derived gradients and axial imaging scans. Being able to predict catheter derived gradients from scans using computational fluid dynamic modeling can help with the pre-procedural planning of patients.</p></div><div><h3>Objectives</h3><p>The aim of this study is to validate a computational fluid dynamic modeling technique that accurately predicts pressure gradients when compared to in vivo cardiac catheterization measurements across a stenotic right ventricle outflow tract.</p></div><div><h3>Methods</h3><p>A retrospective chart review of patients who underwent TPVR (transcatheter pulmonary valve replacement) at our institution was performed. Five patients who underwent TPVR and had a CT scan prior to intervention were identified for this study. Each CT was processed using a 3D Slicer to build a 3-dimensional (3D) model. The model was then processed via ANSYS ICEM software to construct a mesh model for CFD testing. ANSYS Solver was then used to model the fluid dynamics through the heart model.</p></div><div><h3>Results</h3><p>CFD results were obtained for the models and compared to the catheterization data for the specific patient. Linear regression demonstrated a very strong correlation between our model gradients and the gradients obtained during cardiac catheterization with an adjusted R of 0.9959. Model coefficient values were beta-1 = 0.9329 and beta-0 = 3.2916 (<em>p</em> = 0.001).</p></div><div><h3>Conclusions</h3><p>This proof-of-concept study has shown that taking 3-dimensional imaging and building a CFD model can accurately and reliably predict the change in pressure across the right ventricular outflow tracts. This proof-of-concept model can hopefully be applied to the pre-catheterization planning prior to patients requiring a PVR once further refinement and validation have been performed.</p></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":"75 ","pages":"Article 101747"},"PeriodicalIF":0.6,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142147673","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unforeseen turn of events in a toddler with a hypoxic spell and its successful management","authors":"Nisanth Selvam,&nbsp;Navaneetha Sasikumar,&nbsp;Raman Krishna Kumar","doi":"10.1016/j.ppedcard.2024.101748","DOIUrl":"10.1016/j.ppedcard.2024.101748","url":null,"abstract":"<div><p>Cyanotic spells can oftentimes be refractory to medical stabilization and necessitate emergency palliative procedures. One such situation that we came across was managed with right ventricular outflow tract stenting. This was complicated by stent dislodgement, successful retrieval, and re-stenting. While recovering in the intensive care unit, there was sudden hemodynamic instability, which was later attributed to Takatsubo Syndrome. Continued vigilance of such children in the immediate post procedural period is of utmost importance as certain unforeseen events such as Takatsubo Syndrome may occur.</p></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":"75 ","pages":"Article 101748"},"PeriodicalIF":0.6,"publicationDate":"2024-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142012177","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Anomalous left coronary artery from the pulmonary artery in an extremely premature neonate: A case report","authors":"Marcos Mills ,&nbsp;Hunter C. Wilson ,&nbsp;Shannon Jones ,&nbsp;Kera McNelis ,&nbsp;Maureen McKiernan ,&nbsp;Nikhil Chanani ,&nbsp;Paul Chai ,&nbsp;Shanelle Clarke","doi":"10.1016/j.ppedcard.2024.101746","DOIUrl":"10.1016/j.ppedcard.2024.101746","url":null,"abstract":"<div><p>Anomalous Left Coronary Artery from the Pulmonary Artery (ALCAPA) is a rare congenital cardiac lesion that requires surgical correction as soon as safely possible. In the very premature neonate, the surgical and medical considerations are complicated by the intrinsic risk of surgical manipulation of fragile tissue, the potential for severe multiorgan injury from cardiopulmonary bypass, and the ability to offer salvage operations, including extracorporeal membrane oxygenation and mitral valve replacement. Herein, we present a case of a very premature patient diagnosed with ALCAPA who underwent eventual successful repair.</p></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":"75 ","pages":"Article 101746"},"PeriodicalIF":0.6,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141998651","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cardiac magnetic resonance imaging-derived 3-D printed model for pre-procedural planning in a patient with pulmonary venous baffle obstruction following senning palliation: Case report","authors":"Ugonna T. Nwankwo","doi":"10.1016/j.ppedcard.2024.101745","DOIUrl":"10.1016/j.ppedcard.2024.101745","url":null,"abstract":"<div><p>Pulmonary venous baffle obstruction (PVBO) is a clinically significant complication following atrial switch palliation for D-transposition of the great arteries. 3-dimensional printed models have become a valuable tool in pre-procedural planning for cardiac interventions. We report successful PVBO stenting using a cardiac magnetic resonance imaging (MRI)-derived three-dimensional (3-D) printed model. A 20-year-old male with a history of D-transposition of the great arteries s/p Senning procedure was twice hospitalized for respiratory failure. Transthoracic echocardiogram (TTE) and cardiac MRI demonstrated severe PVBO. MRI images were utilized to create a 3-D printed cardiac model that was used to guide the approach for trans-baffle puncture. During cardiac catheterization, there was a mean gradient of 15 mmHg across the pulmonary venous baffle by Gorlin equation and transesophageal echocardiogram (TEE) continuous Doppler. A trans-baffle approach was utilized under fluoroscopic and TEE guidance. The tiny pulmonary vein confluence was crossed with a Judkins Right (JR) 3.5 catheter and a 0.035“ Glidewire, and a 10 mm x 17 mm Valeo stent was deployed in the pulmonary venous baffle over a 0.035” Rosen wire. The stent was post-dilated with a 12 mm × 2 cm Atlas Gold balloon, and pressure pullback demonstrated resolution of the gradient. The trans-baffle puncture site was then closed with a 4 mm Amplatzer septal occluder device. The patient's respiratory symptoms resolved, and his baseline saturations increased. This case demonstrates the utility of MRI-derived 3-D printing in pre-procedural planning for pulmonary venous baffle intervention.</p></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":"74 ","pages":"Article 101745"},"PeriodicalIF":0.6,"publicationDate":"2024-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141841393","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transcatheter closure of perimembranous ventricular septal defect using the cocoon membranous VSD occluder","authors":"Anil Kumar Singhi ,&nbsp;Soumya Kanti Mohapatra ,&nbsp;Arnab De","doi":"10.1016/j.ppedcard.2024.101744","DOIUrl":"10.1016/j.ppedcard.2024.101744","url":null,"abstract":"<div><h3>Background</h3><p>Transcatheter device closure is a well-established treatment for suitable ventricular septal defects (VSDs). The Cocoon Membranous VSD Occluder is a relatively new device specifically designed for perimembranous VSDs. Existing research on the Cocoon Membranous VSD Occluder for closing PM VSD is limited.</p></div><div><h3>Objective</h3><p>This study aimed to describe a single-center experience using the Cocoon Membranous VSD Occluder for perimembranous VSD.</p></div><div><h3>Methods</h3><p>We retrospectively analyzed data from patients who underwent device closure of perimembranous VSD using the Cocoon occluder between May 2023 and April 2024. Procedural success, complications, and short-term outcomes were evaluated.</p></div><div><h3>Results</h3><p>Between May 2023 and April 2024, 13 patients with perimembranous VSD and left-to-right shunt underwent device closure with the Cocoon Membranous VSD Occluder. Twelve patients (92.3 %) achieved successful VSD closure. The mean age was 8.06 years with standard deviation (SD) of 7.24 years. The mean weight was 11.98 kg with SD of 18.93 kg. The mean VSD size was 4.96 mm with SD of 0.92 mm. The VSD was crossed from the right ventricle in 5 patients and from the left ventricle in 9 patients. All patients had successful device placement from the right ventricle approach. The Cocoon Membranous VSD device size ranged from 6 to 4 mm to 12–4 mm. In one smaller patient, the device was electively removed due to significant flow through an additional exit, and the patient subsequently underwent surgery. Another patient developed hemoglobinuria on the fourth day, which resolved by the tenth day with hydration therapy. Two patients experienced trivial to mild aortic regurgitation, and one had Wenckebach phenomenon that resolved the next day. In the short-term follow-up (mean duration of 4.33 months), all patients were doing well, had good device performance, and showed no evidence of heart block.</p></div><div><h3>Conclusions</h3><p>Device closure of perimembranous VSD in infants with the Cocoon Membranous VSD Occluder appears to be safe and effective in carefully selected patients during short-term follow-up. Larger studies with long-term data are necessary for future recommendations.</p></div>","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":"74 ","pages":"Article 101744"},"PeriodicalIF":0.6,"publicationDate":"2024-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141840381","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Commentary: “Pediatric cardiomyopathy illustrates the importance of reinterpreting the significance of genetic variants”","authors":"Robert Weintraub ,&nbsp;David J. Amor","doi":"10.1016/j.ppedcard.2024.101742","DOIUrl":"10.1016/j.ppedcard.2024.101742","url":null,"abstract":"","PeriodicalId":46028,"journal":{"name":"PROGRESS IN PEDIATRIC CARDIOLOGY","volume":"74 ","pages":"Article 101742"},"PeriodicalIF":0.6,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141848633","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}