Search Results (774)

Total anomalous pulmonary venous connection (TAPVC) is one of the most severe congenital heart defects; however, prenatal diagnosis remains suboptimal. A normal fetal heart has a junction between the pulmonary venous (PV) and left atrium (LA). In contrast, no junctions are observed in patients with TAPVC. In the present study, we attempted to visualize and detect fetal PV-LA connections using artificial intelligence (AI) trained on the fetal cardiac ultrasound videos of 100 normal cases and six TAPVC cases. The PV-LA aggregate area was segmented using the following three-dimensional (3D) segmentation models: SegResNet, Swin UNETR, MedNeXt, and SegFormer3D. The Dice coefficient and 95% Hausdorff distance were used to evaluate segmentation performance. The mean values of the shortest PV-LA distance (PLD) and major axis angle (PLA) in each video were calculated. These methods demonstrated sufficient performance in visualizing and detecting the PV-LA connection. In terms of TAPVC screening performance, MedNeXt-PLD and SegResNet-PLA achieved mean area under the receiver operating characteristic curve values of 0.844 and 0.840, respectively. Overall, this study shows that our approach can support unskilled examiners in capturing the PV-LA connection and has the potential to improve the prenatal detection rate of TAPVC. Full article

Background: Chagas disease, caused by Trypanosoma cruzi, remains endemic throughout Latin America but is increasingly reported in urban areas due to migration and vector adaptation. The cardiac form is the most severe manifestation, associated with arrhythmia, mural thrombus formation, and a high risk of cardioembolic events. Stroke secondary to Chagas cardiomyopathy is uncommon and poses diagnostic and therapeutic challenges. Case Presentation: A 58-year-old woman with serologic evidence of T. cruzi infection presented with sudden-onset dyspnea, oppressive chest pain, and left-sided weakness. Neurological examination revealed left brachiocrural hemiparesis and mild dysarthria (NIHSS = 9). Non-contrast cranial CT showed an acute infarct in the right middle cerebral artery territory (ASPECTS = 7). Electrocardiography demonstrated typical atrial flutter with variable conduction, and transthoracic echocardiography revealed a markedly dilated left atrium containing a mural thrombus and a left ventricular ejection fraction of 45%. Intravenous thrombolysis with alteplase (0.9 mg/kg) was administered within 4.5 h of symptom onset. Pharmacologic rhythm control was achieved using intravenous and oral amiodarone, followed by oral anticoagulation with warfarin (target INR 2.0–3.0) after excluding hemorrhagic transformation. The patient showed rapid neurological improvement (NIHSS reduction from 9 to 2) and was discharged on day 10 with minimal residual deficit (mRS = 1), sinus rhythm, and stable hemodynamics. Conclusions: This case highlights the rare coexistence of Chagas cardiomyopathy, atrial flutter, and cardioembolic stroke due to left atrial thrombus. Early recognition, adherence to evidence-based guidelines, and multidisciplinary management were key to achieving a favorable outcome. Timely diagnosis and intervention remain crucial to preventing severe complications in patients with Chagas disease. Full article

To help assess the relationship between N-terminal pro-B-type natriuretic peptide (NT-proBNP) and feline cardiogenic arterial thromboembolism (ATE), the objective of this retrospective study was to compare plasma NT-proBNP concentrations between cats with cardiomyopathy that developed ATE (ATE group) and cats with occult cardiomyopathy that did not develop ATE within 1 year of testing (occult cardiomyopathy [OCM] group). Cats with cardiomyopathy and congestive heart failure (CHF) but no ATE (CHF group) were included for comparison. Cats with cardiomyopathy that had NT-proBNP testing were classified into ATE, OCM, or CHF groups. Clinical, echocardiographic, treatment, and NT-proBNP data from medical records were reviewed and compared among groups. A receiver operating characteristic curve was generated to develop a cutoff point for NT-proBNP. Cats were then compared based on this cutoff point. The ATE group (n = 25) had significantly higher NT-proBNP concentrations than the OCM group (n = 31; p < 0.001); there was no significant difference in NT-proBNP concentrations between the ATE and CHF groups (p = 0.92). The estimated optimal NT-proBNP cutoff point to separate OCM and ATE groups was 491 pmol/L (sensitivity = 96.0%, specificity = 93.5%). Cats with NT-proBNP > 491 pmol/L had a larger left atrium, thicker left ventricle, lower fractional shortening, and higher prevalence of spontaneous echogenic contrast and left atrial thrombi on echocardiography. These preliminary, hypothesis-generating findings suggest that NT-proBNP concentrations > 491 pmol/L may help detect cats with OCM at risk for ATE, but given the limitations of this retrospective study, prospective studies are needed to evaluate the potential utility of this measurement. Full article

A 25-year-old woman with decompensated liver cirrhosis and complete inferior vena cava (IVC) occlusion was referred to our department for liver transplantation. The etiology of cirrhosis was Budd-Chiari syndrome (BCS) related to systemic lupus erythematosus, autoimmune hepatitis, and primary biliary cholangitis (AIH-PBC) overlap syndrome. Transplantation was feasible due to an extensive collateral circulation of pre-vertebral veins that drained blood from the lower extremities and both kidneys to the azygos-hemiazygos veins. This venous anomaly enabled the excision of the obstructed retrohepatic IVC, followed by an alternative anastomosis of the suprahepatic IVC to the right atrium without reconstruction of the infrahepatic IVC. Despite good venous patency and normalization of liver graft function, the patient developed cecum perforation, cardiovascular and respiratory insufficiency, which led to the patient’s death two months after transplantation. This case report supports an individual approach and highlights the feasibility of liver transplantation despite an extensive IVC thrombosis. To our knowledge, it is the first description of the application of a deceased donor liver transplantation in patients with AIH-PBC overlap syndrome and lupus-related BCS. A concise review of published literature on IVC-atrial anastomosis in adult liver transplant recipients is provided, and the technique is discussed based on our recent experience. Full article

Background: Primary plasma cell leukemia (pPCL) represents the most aggressive plasma cell dyscrasia with a poor prognosis and survival of <3 years. The International Myeloma Working Group (IMWG) adopted more inclusive diagnostic criteria for pPCL in 2021, including patients with 5% or more circulating plasma cells (down from 20%). Most published studies of pPCL do not include patients who meet the criteria for pPCL based on the newer diagnostic guidelines, and the data on the optimal treatment of pPCL is scarce. In our multi-center retrospective analysis, we report data on treatment regimens used in 67 pPCL patients to characterize outcomes in this population. Methods: We included patients with newly diagnosed pPCL between 2010 and 2023 based on the 2021 IMWG definition at one of three academic centers. Results: Our results suggest significant improvement in overall response rate (ORR) and progression-free survival (PFS) with the use of autologous stem cell transplant, but without additional benefit for a tandem transplant. The presence of high-risk cytogenetics was an independent risk factor for progression in the cohort. Conclusions: Our dataset represents one of the largest cohorts to date using the expanded definition of pPCL adopted by the IMWG in 2021 and stresses the importance of taking pPCL patients to transplant. Unfortunately, our study was not powered to determine the efficacy of individual induction and maintenance regimens, and many patients diagnosed with pPCL are ineligible for transplant based on end-organ damage at diagnosis or from disease that is refractory to induction therapy, underscoring the need for early diagnosis and treatment in hopes of preserving transplant eligibility. Full article

Background: Globalization, increased mobility, changes in dietary habits, and a growing number of immunocompromised patients have heightened exposure to rare or opportunistic pathogens. Here, we present a case of cardiac implantable electronic device-related infective endocarditis (CIED-IE) caused by Bacillus cereus bacteremia originating in the gastrointestinal tract. Case presentation: A 66-year-old female, who had a cardiac resynchronization pacemaker (CRT-P) implanted in 2017 due to second-degree atrioventricular block and left bundle branch block, had undergone device replacement due to battery depletion 4 months earlier and was scheduled for transvenous lead extraction (TLE) due to generator pocket infection. During the TLE procedure, transoesophageal echocardiography revealed vegetations on the leads and in the right atrium. Standard empirical therapy covering methicillin-resistant Staphylococci and Gram-negative bacteria was administered, including oritavancin and gentamicin. Surprisingly, intraoperative samples cultured B. cereus, a Gram-positive, spore-forming rod that usually causes food poisoning through contamination of rice and other starchy foods. B. cereus is generally resistant to β-lactam antibiotics except for carbapenems but is susceptible to glycopeptides. The oritavancin treatment was extended to four fractionated doses (1200, 800, 800, and 800 mg) administered at 7-day intervals. To eradicate bacteria in the gastrointestinal tract, oral vancomycin (125 mg 4 times a day) was added. After 4 weeks of effective antibiotic therapy, a CRT-P with a left bundle branch area pacing lead was reimplanted on the right subclavian area, with no recurrence of infection during the 3-month follow-up. Clinical discussion: In the patient, a diet high in rice and improper storage of rice dishes, together with habitual constipation, were identified as risk factors for the development of invasive Bacillus cereus infection. However, the long half-life lipoglycopeptide antibiotic, oritavancin, administered weekly, proved effective in treating CIED-IE. Conclusions: Infection with rare or opportunistic microorganisms may require extended microbiological diagnostics and non-standard antibiotic therapy; therefore, the medical history should consider risk factors for such infections. Full article

The reasons for the aggressive clinical phenotype of signet ring cell carcinoma (SRCC) have not been fully elucidated. Previous studies suggest similarities in the genotype of colorectal and gastric SRCC and a clear distinction from non-SRCC. The immune microenvironments of gastric and colorectal SRCC have not been comprehensively examined. We isolated RNA from formalin-fixed, paraffin-embedded (FFPE) sections of 34 tumor specimens, 10 colorectal SRCC, 24 gastric SRCC, 4 non-SRCC colorectal (CCC), and 3 gastric adenocarcinoma (GCC) samples. The PanCancer Immune Profiling Panel was used to evaluate the expression of 770 immune-related genes. We compared the expression profiles of colorectal and gastric SRCC and non-SRCC adenocarcinoma. We found that the immune-related gene expression profiles (GEPs) of colorectal SRCC (CR-SRCC) and gastric SRCC (G-SRCC) were distinct from the non-SRCC. A total of 127 genes were upregulated and 32 downregulated in CR-SRCC compared to CCC. Only two genes (CCL27 and LAIR2 reached statistical significance (p-adj < 0.05)) among the differentially expressed genes in G-SRCC compared to GCC. None of the clinically relevant immune checkpoints were significantly differentially expressed in SRCC vs. non-SRCC. Overall, we noted a relative abundance of CD8+ cells in CR-SRCC and G-SRCC and relative overexpression of genes involved in innate immune response including the complement pathway. Finally, we identified IL13RA2 as a potential biomarker and therapeutic target candidate for CR-SRCC. The immune microenvironments of CR-SRCC and G-SRCC are distinct from non-SRCC. Broadly, both CR-SRCC and G-SRCC are characterized by a complex immune microenvironment that features cytotoxic cells and innate immune activity that may facilitate immune evasion. Full article

Glucagon is an endogenous peptide that is produced in the pancreas. Via glucagon receptors, glucagon increases the beating rate in cultured rat neonatal cardiomyocytes and also in isolated right atrial preparations from adult rats. Moreover, in living adult mice, injections of glucagon can elevate the heart rate. It is unknown whether these effects of glucagon in living adult mice are mediated via central glucagon receptors or via a direct effect on cardiac glucagon receptors. Thus, we tested the hypothesis that glucagon can exert a direct positive chronotropic effect in the adult mouse heart. We measured the contractile effects of cumulatively increasing concentrations of glucagon (0.1–100 nM) in isolated paced (1 Hz) left atrial preparations, in isolated spontaneously beating right atrial preparations and in isolated spontaneously beating retrogradely perfused whole hearts. We detected in isolated right atrial preparations time- and concentration-dependent positive chronotropic effects of glucagon that were reversed by the glucagon receptor antagonists SC203972 and desglucagon. The positive chronotropic effects of glucagon were also attenuated by 1 µM of ivabradine, an inhibitor of the hyperpolarization-activated cation channels (HCN), but not by 100 nM rolipram, a phosphodiesterase 4 inhibitor, nor by 10 µM of propranolol, a β-adrenoceptor antagonist. Moreover, the positive chronotropic effects of glucagon were also attenuated by stimulation of the A₁-adenosine receptor or muscarinic receptors. Glucagon decreased the force of contraction in right atrial preparations. In left atrial preparations, glucagon failed to alter the force of contraction. In isolated adult mouse hearts perfused in the Langendorff mode, 10 nM of glucagon increased the beating rate and reduced left ventricular force of contraction. The gene expression of the glucagon receptors was lowest in the left atrium, higher in the ventricle and highest in the right atrium of adult mice. In summary, glucagon exerted a positive chronotropic effect in the mouse heart via glucagon receptors, mediated, at least in part, via HCN channels in the sinus node. Full article

Background and Clinical Significance: The crista terminalis (CT) is a fibromuscular ridge located on the posterolateral wall of the right atrium, formed by the junction of the sinus venosus and the primitive right atrium. A hypertrophic or prominent CT (HCT) refers to a thickened or conspicuous configuration of this normal anatomical structure. In prenatal ultrasound (US) and/or echocardiographic assessments, HCT can mimic a right atrial mass, such as a tumor or a thrombus. Case Presentation: Herein, we describe a case of a fetal right atrial echogenic mass detected at 32 weeks, which remained stable through gestation and was confirmed postnatally as a likely HCT. No hemodynamic compromise, growth, or pathological sequelae were observed. Conclusions: Our case reinforces the importance of including atrial structural variants in the differential diagnosis of intracardiac masses, particularly when features favor stability and low risk. Serial imaging, avoidance of premature invasive measures, and careful counseling are key to appropriate management. Full article

Background: Umbilical venous catheter (UVC) placement is common in neonates but carries risks of migration and infection. This study evaluates safety of a novel fixation technique using the umbilical cord clamp after a side-entry insertion. Methods: A retrospective analysis of 264 neonates was conducted at a tertiary center in order to assess safety of the novel UVC fixation method. The new technique involved side-entry catheter insertion without severing the cord, secured to the clamp with a sterile patch. Catheter tip position was confirmed and monitored every 24 h via ultrasound. Results: Catheter migration occurred in 18.9% of cases, mostly inward into the right atrium which was managed by repositioning. Migration into the ductus venosus requiring removal occurred in 0.7% of cases and unscheduled removal due to stump detachment in 1.5%. No central line-associated bloodstream infections (CLABSIs) were observed. Conclusions: The umbilical cord clamp method is a safe, single-operator alternative for UVC fixation. This technique had a low rate of catheter migration, did not increase the risk of infection, and was cost-effective and simple. Full article

Background: Ewing sarcoma (ES) is an aggressive malignancy and there is an unmet need for more effective treatment options for patients. Histone deacetylases (HDACs) have been shown to be involved in ES tumorigenesis and HDAC inhibitors have been investigated in the context of ES. Our objective for this study was to investigate the efficacy and mechanism of action of HDAC inhibition in vitro and in vivo in ES models, alone and in combination with standard of care therapies. Methods/Results: HDAC inhibitors were tested for in vitro efficacy against ES cell lines and romidepsin was found to be most effective. The mechanistic changes induced by romidepsin were investigated by Western blotting and proteins involved in cell cycle progression and DNA damage repair were found to be repressed. In vitro we identified that romidepsin synergizes with doxorubicin and etoposide and that it increases the efficacy of the standard of care combinations VDC/IE. Further, the combination treatments lead to an increase in caspase 3/7 cleavage, a decrease in DNA damage repair proteins, and an accumulation of DNA damage. In vivo, the combination of romidepsin and ifosfamide/etoposide (IE) leads to a significant decrease in tumor volume compared to that of IE alone. Conclusions: Our data indicates that romidepsin improves efficacy of chemotherapeutic agents in vitro and leads to a decreased tumor volume in vivo, suggesting that the addition of romidepsin may improve upfront treatment in ES patients. Full article

We report the case of a 53-year-old male patient who presented to the cardiology department with presyncope and atypical chest pain. The transthoracic echocardiography revealed a homogeneous hypoechoic mass measuring 2.5 × 5.7 cm at the level of the anterolateral wall of the right ventricle. In order to further characterize the identified right-ventricle-adjacent mass, we performed a cardiac computed tomography, which confirmed the presence of a homogeneous hypodense mass with a single wall, without septation. Cardiac magnetic resonance imaging demonstrated a serous fluid mass capping the right atrium, right atrial appendage, and coronary sinus, without evidence of myocardial invasion. The multimodality imaging performed clarified the diagnosis of an uncomplicated pericardial cyst. The patient was managed conservatively with every 6 months echocardiographic evaluation. At a 2-year follow-up, he presented no recurrent symptoms, and the pericardial cyst maintained the same characteristics. The cornerstone of this case report was relying on multimodality imaging in order to characterize the adjacent cardiac mass and to arrive at the diagnosis of an uncomplicated pericardial cyst, which established the prognosis and management of the patient. Full article

This retrospective study evaluated the clinical utility of Virtual Reality (VR) in visualizing extracardiac CHD (eCHD) abnormalities involving great vessels, pericardium, or structures outside the heart in nine pediatric patients. Anonymized computed tomography angiography (CTA) DICOM images were processed using Elucis (Version 1.10 elucis next) software to generate interactive 3D models via segmentation. VR models were reviewed for a variety of cases: vascular rings (two with right aortic arch, aberrant left subclavian artery, and diverticulum of Kommerell; two with double aortic arch), pericardial teratomas (n = 2), right superior vena cava draining into the left atrium (n = 1), left pulmonary artery sling (n = 1), and aortopulmonary window (n = 1). VR video images were presented during weekly heart center conferences. A survey conducted among heart center staff assessed the perceived value of VR in clinical practice. A total of 62% found traditional diagnostic modalities very effective, 100% considered VR a valuable diagnostic tool, 65% responded positively to VR image resolution, 50% highlighted its educational benefit, 81% believed VR enhanced diagnostic accuracy and surgical planning, and 100% would recommend its use to colleagues. This study demonstrates the successful integration of VR-based segmentation into clinical workflows, underlining its potential as both an educational resource and a tool to support diagnostic and surgical decision-making. Full article

Background/Objectives: Primary cardiac sarcomas are rare and aggressive tumors. Management is often guided by evidence from other sarcoma types due to limited disease-specific data. This study aimed to analyze the clinical characteristics, pathology, treatment, and outcomes of primary cardiac sarcomas at a national referral center in Spain. Methods: We conducted a retrospective, observational, single-center study from February 2017 to December 2024. Patient data were collected from medical records, and a descriptive analysis was performed. Results: Twelve patients were identified (58% female; median age 43 years, range 13–76). Dyspnea was the most common symptom (8/12, 67%), and the right atrium was the most frequent tumor site (6/12, 50%). Angiosarcoma was the predominant histologic subtype (6/12, 50%). Seven patients had localized disease at diagnosis. Surgery was performed in six patients, with complete (R0) resection in two. Two patients received adjuvant chemotherapy, one underwent cardiac transplantation, and one received sequential chemo- and radiotherapy. All patients experienced tumor recurrence, with a median recurrence-free survival of 5 months (95% CI, 1.5–8.6). Median overall survival for localized disease was 22 months (95% CI, 16–28). Five patients were metastatic at diagnosis, and 11 of 12 developed metastases. Median progression-free survival for first-line therapy was 5.9 months (95% CI, 1.8–9.9), and median overall survival for advanced disease was 12 months (95% CI, 10–13.6). Conclusions: Complete surgical resection was rarely achieved, and recurrence was universal. Outcomes remained poor even for localized disease, highlighting the limited efficacy of current therapies and the need for improved multimodal treatment strategies. Full article

Background/Objectives: Canadian Advanced Physiotherapist Practitioner (APP) roles have existed for over 25 years in pediatric rheumatology. The APP can manage many common pediatric rheumatic conditions most often in Shared-Care Models (SCMs) with pediatric rheumatologists (PRs). The quality of care children receive in an APP SCM compared to traditional care is unknown. The Pediatric Rheumatology Care and Outcomes Improvement Network (PR-COIN) tracks quality measures as Key Performance Indicators (KPIs) in juvenile idiopathic arthritis (JIA) care. This study aimed to analyze the frequency of KPIs documented in a pediatric rheumatology APP SCM from a single center and compare to PR-COIN’s performance targets to assess the quality and safety of care. Methods: A retrospective chart review of JIA cases managed in a pediatric rheumatology APP SCM over a 2-year period was conducted. KPIs for disease activity, safety monitoring and access to care were evaluated. Frequency of KPI documentation by the APP were compared to target performance goals (≥40, ≥70 or ≥80% documentation rate depending on KPI) and with PR-COIN data from the Same Center (SC) (three rheumatologists) and PR-COIN (15 centers). Results: Documented KPIs were compared between the APP SCM, SC and PR-COIN registry (138; 140; 11,431 eligible visits, respectively) between June 2022–May 2024. Demographics were similar between groups. Increased percentages of patients with polyarticular rheumatoid factor positive and psoriatic subtypes were seen by APP compared to SC and PR-COIN. Documentation frequency of all disease activity and safety monitoring KPI performance goals were either higher in the APP SCM or comparable to SC and PR-COIN. Conclusions: The pediatric rheumatology APP SCM exceeded PR-COIN performance goals for KPI documentation, establishing a high level of quality and safety of care for children with JIA when managed in this model of care. Next steps include replicating this study in other pediatric rheumatology centers with an APP SCM. Full article