Search Results (2,231)

Background/Objectives: Obstructive Sleep Apnea Syndrome (OSAS) is a chronic disorder characterized by repeated upper airway obstruction during sleep, leading to intermittent hypoxia and elevated sympathetic activity. OSAS is strongly linked to cardiovascular comorbidities such as hypertension, arrhythmias, heart failure, and atherosclerosis, contributing to structural and functional cardiac alterations. Methods: This study enrolled 105 consecutive patients diagnosed with OSAS and a control group of 100 patients without the syndrome. All participants underwent a comprehensive echocardiographic evaluation using Doppler imaging to assess cardiac structure and function. Results: Hypertension was significantly more prevalent in the OSAS group (81%) compared to controls (74%). Left ventricular diastolic dysfunction occurred in 56.2% of OSAS patients versus 26% of controls. Left atrial enlargement and left ventricular hypertrophy were also more frequent in the OSAS group (21% and 51.4%, respectively) compared to controls (13% and 5%). Permanent atrial fibrillation was present in 17.1% of OSAS patients, significantly higher than the 7% observed in controls. These findings highlight the pronounced cardiac remodeling and arrhythmic burden associated with OSAS. Conclusions: The data confirm that OSAS is associated with increased cardiovascular abnormalities detectable by echocardiography, underscoring the need for routine cardiovascular screening in OSAS patients. Given the systemic implications of OSAS beyond sleep disturbances, a multidisciplinary approach is essential for early diagnosis and optimized management, aiming to mitigate cardiovascular risk and improve outcomes. OSAS is a significant cardiovascular risk factor requiring comprehensive clinical attention. Full article

Background. Cor triatriatum dexter (CTD) is a rare congenital heart defect where a membrane divides the right atrium into two chambers, resulting from the incomplete regression of the right valve of the sinus venosus. Due to its rarity, only individual case reports and a limited number of case series have been published to date. This study constitutes the most extensive comprehensive review conducted in this area. Eight factors were evaluated: age at diagnosis, sex, clinical presentation, electrocardiographic findings, imaging (ultrasound, CT, or MRI), associated cardiac anomalies, and patient outcomes. Methods. The electronic databases PubMed and Scopus were searched from their inception until 30 October 2025. Only case reports and case series were considered for inclusion. Studies involving foetuses, autopsies, and animals were excluded. The collected data were primarily presented as percentages. Results. One hundred fourteen studies were found encompassing 124 patients. The mean age at diagnosis was 33.3 ± 9.4 years The most common clinical presentations were dyspnoea (44.3%) and cyanosis (29.5%). The most commonly encountered ECG changes were supraventricular tachycardia/atrial flutter/atrial fibrillation (33.3%) and right bundle branch block (22.6%). On chest X-ray, cardiomegaly was noted in 46.5%. CTD was suspected or diagnosed by echocardiography in 95.2% of cases. The diagnosis was confirmed by CT and/or MRI in 34.1% of cases. A concomitant congenital heart defect was found in 67.7%, especially in the form of all kinds of atrial septal defect (38.1%) and of right valvular and right ventricular involvement (20.1%). An outcome was reported in 97/124. Surgical correction was the treatment of choice in 51.6%. Since 1991, a percutaneous approach has been employed in selected cases (5.1%). Conservative management was the treatment of choice in 43.3%. The mortality rate was 8.2%. Discussion. The principal limitation of this systematic review lies in its reliance solely on case reports and small case series, reflecting the absence of large-scale studies on CTD. Nonetheless, it constitutes the most comprehensive analysis available to date. Full article

Background: Point-of-care ultrasound (POCUS) has emerged as a valuable tool for rapid diagnosis, procedural guidance, and real-time clinical decision-making in neonatal and pediatric critical care. Despite its growing use in acute medicine, the evidence describing its implementation, utility, and impact in interfacility and prehospital transport settings remains limited. This scoping review aims to systematically map the current body of evidence on POCUS use during neonatal and pediatric transport and to identify knowledge gaps to inform future research, training, and clinical integration. Methods: A scoping review was conducted following PRISMA-ScR 2020 guidelines, searching PubMed, Embase, Scopus, CINAHL, and Web of Science for studies describing POCUS use during neonatal and pediatric transport. Results: Of 3676 unique articles identified, 20 met inclusion criteria, including 10 cohort studies, 3 case series, 4 case reports, 2 narrative reviews, and 1 textbook chapter. Fifteen studies reported extractable patient-level data and were included in quantitative synthesis, encompassing 4278 patients. Among these, 1153 (27.0%) patients were under 18 years old, and 576 (13.5%) had POCUS performed during transport. POCUS was primarily used for diagnostic assessment—mainly lung and cardiac imaging—with variability in protocols, operator training, and transport characteristics. Eleven studies (73.3%) reported that POCUS altered clinical management, influencing management in 106 (18.4%) patients through diagnostic clarification, resuscitation decisions, medical or ventilator adjustments, and changes in transport destination. Conclusions: Evidence suggests that POCUS supports clinical decision-making and timely intervention during neonatal and pediatric transport, though use remains inconsistent. Future studies should focus on developing structured training frameworks, validating transport-specific protocols, and assessing the impact of POCUS on clinical outcomes and transport safety. Full article

Obstructive Sleep Apnea (OSA) is a highly prevalent yet frequently underdiagnosed disorder strongly associated with cardiovascular morbidity and mortality. It is characterized by recurrent episodes of intermittent hypoxia, intrathoracic pressure swings, and sleep fragmentation that trigger sympathetic hyperactivation, oxidative stress, systemic inflammation, and progressive structural cardiac remodeling. These mechanisms translate into a wide range of electrocardiographic (ECG) abnormalities, including both nocturnal brady- and tachyarrhythmias, as well as daytime conduction and repolarization changes. This narrative review synthesizes current knowledge on ECG manifestations of OSA, encompassing atrial and ventricular ECG characteristics and the burden of supraventricular and ventricular arrhythmias. Emerging evidence suggests that several daytime ECG markers may represent accessible, low-cost indicators of subclinical cardiac remodeling and autonomic imbalance, with potential clinical implications. In addition, there is a rapidly evolving landscape of artificial intelligence applications and wearable-based ECG monitoring for OSA detection and risk stratification. Standardization of ECG-derived markers, validation across diverse populations, and integration into clinical workflows represent key priorities for future research. Recognizing ECG alterations associated with OSA may support earlier diagnosis, improved arrhythmic risk stratification, and more effective multidisciplinary management. Full article

Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease, classically characterized by right ventricular outflow tract obstruction, ventricular septal defect, overriding aorta, and right ventricular hypertrophy. Recent advances in molecular and genomic research indicate that TOF is part of a phenotypic continuum encompassing Trilogy, Tetralogy, and Pentalogy of Fallot, in which the variability of anatomical presentation reflects shared genetic and epigenetic mechanisms with highly variable penetrance and expressivity. Variants in NOTCH1, FLT4, KDR, GATA6, and TBX1 highlight key pathways in conotruncal development and endothelial–mesenchymal transition, yet these well-known genes explain only a fraction of the genetic landscape. Emerging studies have identified additional candidate genes and networks involved in cardiac morphogenesis, including transcriptional regulators, signaling mediators, chromatin-remodeling factors, and splicing-associated genes such as PUF60 and DVL3. Epigenetic mechanisms, including DNA methylation, histone modifications, and non-coding RNA expression, further modulate phenotypic expressivity and contribute to variability along the Trilogy–Tetralogy–Pentalogy spectrum. This review integrates current genomic and clinical evidence to provide a comprehensive overview of the molecular architecture of Fallot-type conotruncal malformations, emphasizing the interplay between genetic and epigenetic mechanisms, genotype–phenotype correlations, and implications for diagnosis, risk stratification, counseling, and personalized management in the era of precision cardiology. Full article

Background: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is a rare multisystem disorder caused by mitochondrial DNA mutations, most commonly the m.3243A>G variant in the MT-TL1 gene. Although neurological manifestations predominate, cardiac involvement, including hypertrophic cardiomyopathy (HCM), heart failure (HF), and arrhythmias, may be the initial or dominant presentation and often remains underrecognized. Case Presentation: We report a 43-year-old man with chronic kidney disease (CKD) and long-standing bilateral sensorineural hearing loss who presented with progressive dyspnea and acute decompensated HF. Transthoracic echocardiography revealed severe left ventricular (LV) systolic dysfunction with diffuse hypertrophy. Cardiac magnetic resonance showed non-ischemic cardiomyopathy with diffuse late gadolinium enhancement and increased LV wall thickness. Coronary angiography excluded obstructive disease. Initial endomyocardial biopsy performed at a referring center showed nonspecific hypertrophy and fibrosis without diagnostic features. Given the multisystem involvement, a metabolic or genetic etiology was suspected. Whole-exome sequencing identified the pathogenic m.3243A>G MT-TL1 mutation, confirming MELAS syndrome. The patient was managed with guideline-directed HF therapy, received an implantable cardioverter-defibrillator for primary prevention, and was subsequently evaluated for heart transplantation. Conclusions: This case highlights the importance of considering mitochondrial disorders in the differential diagnosis of unexplained cardiomyopathy, particularly when cardiac dysfunction coexists with renal impairment and auditory deficits. Comprehensive multimodality evaluation and genetic testing are essential to establishing a unifying diagnosis and optimizing management. Full article

Background/Objectives. Ebstein’s anomaly (EA), which accounts for fewer than 1% of congenital heart diseases, and atrioventricular canal defect (AVCD), present in approximately 4–5% of cases, exceptionally coexist, with this combination observed in fewer than 0.5% of patients with AVCD. We aim to report the oldest documented case of a 45-year-old female with the exceptionally rare combination of complete AVCD, EA, and right ventricular hypoplasia and to provide a concise review of these anomalies. Case presentation. Diagnosed in early childhood with a complete AVCD, pulmonary stenosis, and right ventricular (RV) hypoplasia, the patient underwent palliative surgical intervention with a modified Blalock–Taussig shunt at the age of 10 but did not receive subsequent regular follow-up. Over the ensuing 35 years, she remained largely untreated until presentation at 45 years of age with progressive exertional dyspnea, central cyanosis, and palpitations, corresponding to NYHA class III. Comprehensive multimodal imaging, including transthoracic echocardiography and cardiac magnetic resonance, revealed a complete AVCD with moderate-to-severe mitral regurgitation secondary to an anterior mitral leaflet cleft, severe tricuspid regurgitation, RV hypoplasia, and hallmark features of EA. Given the complex cardiac anatomy and the elevated surgical risk, the patient was considered inoperable, and a strategy of conservative management with multidisciplinary follow-up was implemented. Conclusions. This case highlights the exceptional longevity of a patient with the rare coexistence of complete AVCD, EA, and RV hypoplasia, surviving 45 years from diagnosis despite limited early intervention. It underscores the importance of lifelong follow-up in complex congenital heart disease and illustrates the role of multimodal imaging in assessing anatomy and guiding management when surgical options are high-risk or not feasible. Full article

Background and Objectives: Coronary heart disease is a leading cause of death in developed countries. While ECG-gated coronary CT is commonly used to detect coronary artery stenosis, the potential of non-ECG-gated CT (NECE-CT) to reveal incidental myocardial perfusion defects indicative of acute myocardial infarction (AMI) remains underexplored, particularly in emergency settings where rapid diagnosis is crucial. Materials and Methods: We retrospectively analyzed 22 suspected AMI patients from the emergency department who underwent NECE-CT without either an initial AMI diagnosis or available cardiac enzyme or ECG data. Results: AMI was confirmed in 45% (n = 10) of patients, with 30% (n = 3/10) showing elevated troponin I levels only after the CT exam. In the AMI group, all patients had perfusion defects, with 20% (n = 2) showing transmural defects and 80% (n = 8) showing endocardial defects. In contrast, all patients in the non-AMI group exhibited endocardial defects. Coronary artery calcification was significantly higher in the AMI group (70%) compared to the non-AMI group (25%, p < 0.05). Conclusions: These findings suggest that NECE-CT may reveal myocardial perfusion defects as an ancillary sign of AMI. While not a standalone diagnostic tool, careful evaluation of the myocardium in emergency CT scans may raise suspicion of AMI in patients with atypical presentations, offering more insight than standard methods. Further prospective studies with larger cohorts are needed to validate the clinical utility of these incidental findings. Full article

Objective: The study aims to evaluate the diagnostic and prognostic efficacy of gut-derived trimethylamine N-oxide (TMAO) as a molecular biomarker for heart failure (HF) in comparison to the N-terminal pro-B-type natriuretic peptide. Background: The clinical value of N-terminal pro-B-type natriuretic peptide (NT-proBNP) is frequently affected by non-cardiac physiological variables, including adiposity, advanced age, and renal clearance rates. Consequently, there is a compelling need for additional biomarkers. This analysis investigates TMAO as a critical mediator within the gut–heart axis, reflecting systemic inflammation and myocardial fibrosis secondary to intestinal dysbiosis. Methods: A comprehensive literature search was conducted using PubMed. Keywords such as “trimethylamine N-oxide”, “heart failure”, “heart failure with preserved ejection fraction” and “N-terminal pro-B-type natriuretic peptide” were used. The inclusion criteria comprised original research and literature reviews describing the pathophysiological mechanisms and clinical utility of TMAO in the context of HF diagnosis and prognosis. Results: The analyzed literature suggests that TMAO functions as an independent predictor of major adverse cardiovascular events, correlating with all-cause mortality and rehospitalization risk across all HF phenotypes. Furthermore, data indicate that using TMAO alongside NT-proBNP measurements may predict patient risk more accurately, particularly in patients where natriuretic peptide interpretation is traditionally obscured by comorbidities such as diabetes mellitus and chronic kidney disease. Conclusions: Although NT-proBNP remains the gold standard for acute diagnosis, TMAO provides significant value for long-term clinical management. By serving as a metabolic–inflammatory indicator, TMAO complements standard diagnostic panels, offering deeper insights into the prognostic trajectory and the underlying intestinal barrier integrity of patients with HF. Full article

Background and Clinical Significance: Absorbable haemostatic agents such as Surgicel^® Fibrillar are useful adjuncts to control post-surgical bleeding in cardiac surgery. The material is purposefully left in situ and it slowly degrades over time. Previous publications, mainly in general and gynaecological surgery, have demonstrated that these materials can mimic gangrenous infection, abscesses, anastomotic leak, and early tumour recurrence in imaging studies. These findings can often lead to unnecessary re-interventions or re-operations. The number of reports in the cardiothoracic surgical field is limited. Case Presentation: We report a 45-year-old man who underwent aortic valve replacement and ascending aorta and hemiarch replacement. In this case, Surgicel^® Fibrillar was used to optimise graft contouring, contributing to postoperative imaging appearances that initially raised concern for infection. The patient was conservatively managed given his stable clinical picture and focused review of CT images with the knowledge of location of Surgicel^® Fibrillar. Repeat CT scan after 2 weeks showed a significant reduction in collection size and complete resolution of air bubbles within the collection. Conclusions: It is important for cardiothoracic surgeons and radiologists to be aware of the early CT appearances of haemostatic agents to minimise erroneous diagnosis of postoperative complications leading to unnecessary interventions. This case highlights a diagnostic pitfall in postoperative imaging, where retained absorbable haemostatic material may mimic serious infective complications and lead to unnecessary re-intervention if operative and radiological findings are not carefully correlated. Full article

Neonatal arrhythmias, though relatively uncommon, can range from benign self-limiting conditions to life-threatening disorders requiring intensive management. Data on their clinical spectrum, management, and outcomes remain limited. This study aimed to evaluate the types, frequency, clinical characteristics, treatment strategies, and prognosis of neonatal arrhythmias in a tertiary pediatric cardiac center. We retrospectively reviewed neonates diagnosed with arrhythmia within the first 28 days of life at Basaksehir Cam and Sakura City Hospital between 1 January 2021 and 1 May 2025. Demographic data, electrocardiographic and echocardiographic findings, treatment modalities, recurrence, morbidity, and mortality were analyzed. Patients were categorized as having benign or non-benign arrhythmias. A total of 65 neonates (57% male, mean weight 3.2 kg) were included. Non-benign arrhythmias were more frequent (77%) compared to benign arrhythmias (23%). Supraventricular tachycardia (35%) was the most common non-benign arrhythmia, followed by long QT syndrome (10.7%) and complete atrioventricular block (9.2%). Antiarrhythmic therapy was required in 55% of patients. Pacemaker implantation was performed in seven infants with conduction disorders. Recurrence occurred in 3% of cases, exclusively among patients with supraventricular tachycardia. During a median follow-up of 12.8 months, no mortality was observed. Prenatal diagnosis and early management contribute to favorable outcomes, as reflected in the absence of mortality in this cohort. Larger, prospective studies are warranted to define optimal management strategies and treatment durations for neonatal arrhythmias. Full article

Objectives: The diagnosis of infective endocarditis (IE) is clinically challenging. This study aimed to examine an endocarditis network and the effects of delayed diagnosis. Methods: We reviewed the patients who were admitted for infective endocarditis at our institution between January 2012 and December 2021. Infective endocarditis was diagnosed according to ESC/EACTS guidelines for the management of endocarditis. Details of admitting hospitals were obtained from the German Hospital Directory. Data are presented as medians (25th–75th quartiles) or absolute values (percentages) unless otherwise specified. Results: A total of 812 consecutive patients were admitted to our centre for IE. Exact records on the time to diagnosis were available for 707 patients (87.1%). The patients were divided into two groups based on the time to diagnosis, i.e., up to 7 days (n = 509; 72.0% group ED) and more than 7 days (n = 198; 28.0% group LD). The EuroSCORE II (p = 0.001) and the EndoSCORE (p = 0.019) were significantly higher in the LD group. The median time to diagnosis was shorter in university hospitals as compared to non-teaching hospitals (p = 0.008) and among patients admitted to cardiology and cardiac surgery departments (p < 0.001). Patients diagnosed later had higher rates of tracheostomy (p < 0.001), longer ICU (p = 0.004) and hospital stays (p < 0.001) and higher in-hospital mortality (p = 0.027). We found that a delayed diagnosis (p = 0.040), stroke (p = 0.004), age > 75 years (p = 0.044) and atrial fibrillation (p < 0.001) were independently associated with in-hospital mortality. Furthermore, survival at 1 and 5 years was significantly higher in the ED group (p < 0.001). Conclusions: The diagnosis of IE may be influenced by a multitude of factors. Our results indicate that a delayed diagnosis is independently associated with an increased rate of in-hospital mortality. According to our results, an early diagnosis of IE may be associated with improved outcomes. Full article

Background/Objectives: Interest in myocardial mapping for cardiac MRI has increased, enabling differentiation of various cardiac diseases through T1, T2, and T2* mapping. This study evaluates the impact of deep learning (DL)-based image reconstruction on the mean and standard deviation (SD) of these techniques. Methods: Fifty healthy adults underwent cardiac MRI, with images reconstructed using the AIR Recon DL prototype. This DL approach, which reduces noise and enhances image quality, was applied at three levels and compared to non-DL reconstructions. Results: Analysis focused on the septum to minimize artifacts. For T1 mapping, mean values were 988 ± 50, 981 ± 45, 982 ± 43, and 980 ± 24 ms; for T2 mapping, mean values were 53 ± 5, 54 ± 5, 54 ± 5, and 54 ± 5 ms and for T2* mapping, mean values were 37 ± 5, 37 ± 5, 37 ± 5, and 38 ± 5 ms for no DL and increasing DL levels, respectively. Results showed no significant differences in mean values for any mappings between non-DL and DL reconstructions. However, DL significantly reduced the SD within regions of interest for T1 mapping, enhancing image sharpness and registration accuracy. No significant SD reduction was observed for T2 and T2* mappings. Conclusions: These findings suggest that DL-based reconstructions improve the precision of T1 mapping without affecting mean values, supporting their clinical integration for more accurate cardiac disease diagnosis. Future studies should include patient cohorts and optimized protocols to further validate these findings. Full article

Background: Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease and affects male patients more often than women. Prior studies, however, suggested that women are diagnosed later and at advanced stages of the disease, present with more pronounced symptoms, and experience worse outcomes. Objectives: To investigate sex-specific differences in clinical, laboratory, and comprehensive imaging characteristics in a contemporary cohort of HCM patients from a tertiary referral center in Austria. Methods: We retrospectively analyzed 321 HCM patients enrolled in a prospective registry (2018–2024). All patients underwent a comprehensive baseline evaluation, including medical history, laboratory assessment, transthoracic echocardiography, and cardiac magnetic resonance imaging. Results: At diagnosis, women were significantly older (62 vs. 53 years, p < 0.001) and presented with more advanced functional class (NYHA ≥ II: 80% vs. 49%, p < 0.001). Six-minute walking distance was lower and obstructive HCM was more prevalent in women (425 vs. 505 m, p < 0.001, and 55% vs. 32%, p < 0.001, respectively). Echocardiographic assessment revealed higher diastolic filling pressures (E/E′ 18 vs. 10, p < 0.001), larger indexed atrial volumes (29.5 vs. 26.6 mL/m², p < 0.001), a higher left ventricular ejection fraction (70% vs. 62%, p < 0.001), and a larger indexed interventricular septal thickness in women (10.2 vs. 9.3 mm/m², p = 0.004). Moreover, serum levels of NT-proBNP were significantly higher in women (760 vs. 338 pg/L, p < 0.001). Conclusions: Female patients with HCM were diagnosed at an older age, presented with more advanced symptoms, had higher rates of obstructive physiology, and a phenotype characterized by diastolic dysfunction and elevated biomarkers, closely resembling heart failure with preserved ejection fraction. Recognizing these sex-specific disparities is crucial in improving diagnostic awareness and individualized therapeutic management. Full article

Background: Immune checkpoint inhibitors (ICIs), such as anti-programmed death (PD)-1 and anti-cytotoxic T-lymphocyte-associated protein (CTLA)-4 agents, have revolutionized oncology but are associated with immune-related adverse events (irAEs). Among these, ICI-associated myocarditis (ICI-M) is a rare but life-threatening complication, with mortality rates ranging from 27% to 50%. Objective: This narrative review summarizes the pathogenesis, epidemiology, clinical presentation, diagnostic methods, and management strategies for ICI-induced myocarditis, specifically highlighting emerging biomarkers and immunosuppressive therapeutic approaches. Results and Discussion: ICI-M typically presents within the first 65 days of treatment and is significantly more frequent with combination therapies. Pathologically, it is characterized by myocyte necrosis and massive infiltration of cluster of differentiation (CD)4+ and CD8+ T-cells, often overlapping with myositis (irM/M). Diagnosis relies on a multimodal approach. Management requires immediate ICI cessation and initiation of high-dose corticosteroids as first-line therapy. For steroid-refractory cases, second-line options include mycophenolate mofetil (MMF), intravenous immunoglobulin (IVIG), and emerging therapies like abatacept and ruxolitinib. Rechallenge with ICIs after high-grade ICI-M must be approached with extreme caution by the multidisciplinary team (MDT). Emerging biomarkers and omics techniques hold promise for earlier diagnosis and risk stratification. Conclusions: ICI-M is a rare yet highly lethal cardiac complication demanding high clinical vigilance and timely diagnosis. Management hinges on an aggressive multidisciplinary approach, aiming to minimize toxicity while balancing oncological efficacy. Full article