Search Results (227)

Background/Objectives: Cardiovascular diseases (CVDs), including valvular heart disease (VHD), remain the leading cause of morbidity and mortality in patients with rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). Case Presentation: We report a rare case of a woman in her fifth decade of life diagnosed with overlap syndrome (RA and SLE), in whom transthoracic echocardiography (TTE) and transesophageal echocardiography (TEE) revealed a degenerative altered bicuspid aortic valve with moderate aortic regurgitation (AR) and preserved left ventricular systolic function. The patient presented with a recent history of continuous, moderate chest discomfort and progressive exertional dyspnea, along with a mild elevation in highly cardioselective enzymes. AR was confirmed as the cause of her symptoms, rather than acute coronary syndrome or heart failure. Conclusions: This case highlights the potential contribution of chronic systemic inflammation in RA/SLE to the pathogenesis of AR, an extra-articular manifestation associated with adverse clinical outcomes. These findings support the routine use of echocadiography in rheumatologic patients as a key strategy for early detection and prevention of life-threatening CV complications. Full article

Background and Clinical Significance: Fourth ventricular epidermoid cysts are among the least frequently encountered intracranial tumors (less than 1%). Their slow growth pattern along cisternal and subarachnoid spaces, and their close proximity to neurovascular structures (brainstem–cerebellar), create difficulty for surgical treatment. Total removal is often complicated by the capsule’s adherence to eloquent structures and requires a thoughtful surgical approach of weighing radical resection versus neurologic/function preservation. This case description provides an example of using careful clinical–radiological correlation and anatomy-dissecting microsurgery as a method of permanent decompression and neurologic recovery with low operative risk. Case Presentation: A 57-year-old female presented with impaired stability of gait, gaze-evoked nystagmus, appendicular ataxia, minimal ipsilateral hypotonia, and mild bulbar dyscoordination. Imaging (MRI, MRA) revealed a large, lobulated mass that was lobulated and avascular centered in the left cerebellar hemisphere, with an extension into the vermis and cisterna magna, and partial filling of the fourth ventricle with classic epidermoid imaging. Resection was performed via a midline suboccipital telovelar approach with microsurgery, relying on native arachnoid planes and quadrant opportunities of decompression, while preserving critical neurovascular structures. A thin rim of capsule intimately adherent to the floor of the ventricle was intentionally left to minimize irreversible cranial nerve injury. Histology showed keratinizing stratified squamous epithelium with laminated keratin and cholesterol clefts. Following resection, truncal stability, limb coordination, and ocular pursuit improved without additional deficits. Initial and 3-month postoperative MRI showed total decompression, re-established CSF pathways, and no recurrence. Conclusions: This case demonstrates that maximal safe resection (with function preservation) through natural anatomy corridors can achieve excellent neurologic results in fourth ventricular epidermoids. Lifelong MRI surveillance will be needed due to the srisk of delayed recurrence even after near-total resection. Full article

Background and Clinical Significance: This article explores the application of fetal speckle tracking technology in evaluating critical aortic stenosis (AS) in fetuses, highlighting its potential for predicting neonatal outcomes. Case Presentation: We present two cases of fetuses diagnosed with critical AS and associated complications at late gestation. Case 1 demonstrated preserved left ventricular function, as indicated by favorable global strain (GS), fractional area change (FAC), and ejection fraction (EF) values, despite critical conditions. This infant underwent successful postnatal interventions and was discharged after an extended NICU stay. In contrast, Case 2 exhibited severely compromised left ventricular function with significantly reduced GS, FAC, and EF parameters, leading to a tragic outcome despite intensive management. Conclusions: Our findings suggest that innovative echocardiographic parameters such as GS, FAC, and EF for the left ventricle are crucial in prognostic evaluations for fetuses with critical AS. The study underscores the importance of advancements in fetal cardiology and the need for further research to enhance prognostic assessments and improve clinical outcomes in affected neonates. Full article

Introduction: Changes in left ventricular (LV) wall thickness serve as important diagnostic and prognostic indicators in various cardiovascular diseases. To date, no automated software exists for the measurement of myocardial segmental wall thickness in cardiac MRI (CMR), which leads to reliance on manual caliper measurements that carry risks of inaccuracy. Aims: This paper aims to present a new automated segmental wall thickness measurement software, OptiLayer, developed to address this issue and to compare it with the conventional manual measurement method. Methods: In our pilot study, the algorithm of the OptiLayer software was tested on 50 HEALTHY individuals, and 50 excessively trabeculated noncompaction (LVET) subjects with preserved LV function, whose morphology makes it more challenging to measure left ventricular wall thickness, although often occurring with myocardial thinning. Measurements were performed by two independent investigators who assessed LV wall thicknesses in 16 segments, both manually using the Medis Suite QMass program and automatically with the new OptiLayer method, which enables high-density sampling across the distance between the epicardial and endocardial contours. Results: The results showed that the segmental wall thickness measurement values of the OptiLayer algorithm were significantly higher than those of the manual caliper. In comparisons of the HEALTHY and LVET subgroups, OptiLayer measurements demonstrated differences at several points than manual measurements. Between the investigators, manual measurements showed low intraclass correlations (ICC below 0.6 on average), while measurements with OptiLayer gave excellent agreement (ICC above 0.9 in 75% of segments). Conclusions: Our study suggests that OptiLayer, a new automated wall thickness measurement software based on high-precision anatomical segmentation, offers a faster, more accurate, and more reproducible alternative to manual measurements. Full article

Background/Objectives: Aortic stenosis (AS) leads to progressive left ventricular (LV) pressure overload, adverse myocardial remodeling, and eventual functional decline. While traditional parameters such as left ventricular ejection fraction (LVEF) may remain preserved until advanced stages, they are insufficiently sensitive to early dysfunction. Global longitudinal strain (GLS) offers improved detection but remains load-dependent. In contrast, non-invasive myocardial work (MW)—derived from pressure-strain loops—offers a more load-independent assessment of myocardial function. This systematic review and meta-analysis aimed to evaluate the effects of transcatheter aortic valve implantation (TAVI) on MW indices in patients with severe AS. Methods: We performed a systematic review and meta-analysis of studies reporting non-invasive myocardial work parameters before and after TAVI (PROSPERO ID: CRD420250517138). Databases were searched through 31 March 2025. Pooled mean differences in global work index (GWI), global constructive work (GCW), global wasted work (GWW), and global work efficiency (GWE) were calculated using random-effects models. Sensitivity analyses and meta-regression were conducted to explore heterogeneity and the influence of baseline characteristics. Results: Eleven studies encompassing 1493 patients were included. TAVI was associated with a significant reduction in GWI (−236.67 mmHg% [95% CI: −373.82 to −99.52]; I² = 97.0%; p = 0.002) and GCW (−243.71 mmHg% [95% CI: −407.38 to −80.03]; I² = 97.4%; p = 0.006). No significant changes were observed in GWW or GWE. Meta-regression showed age and baseline LVEF significantly influenced GWE changes, but not other parameters. Conclusions: TAVI leads to a significant reduction in GWI and GCW, reflecting decreased myocardial workload and afterload relief. These findings support the utility of MW indices as valuable tools for assessing myocardial adaptation post-TAVI and potentially guiding clinical decision-making. Full article

Recent evidence demonstrates that mitral valve prolapse (MVP) increases mechanical stress on the subvalvular apparatus and is linked to regional myocardial fibrosis and life-threatening ventricular arrhythmias. However, current surgical guidelines do not account for the extent of myocardial fibrosis or the severity of leaflet involvement, both key features of arrhythmogenic MVP. To address this gap, we conducted histopathological analysis of endomyocardial biopsies from patients with MVP and regionalized myocardial fibrosis (n = 6) who underwent mitral valve repair. Using digital pathology-based quantitative image analysis (QIA), we found that fibrosis in peri-papillary biopsies exhibited a significantly higher Morphometric Composite Score compared with remote biopsies (5.68 ± 0.69 vs. 3.71 ± 0.49, p = 0.042), reflecting larger, more branched, and more assembled collagen fibers, indicative of a mature and persistent fibrotic phenotype. These findings suggest that myocardial scarring in MVP is well-established by the time of surgery and underscore the potential value of earlier surgical intervention to reduce the risk of arrhythmia and preserve post-operative left ventricular function. Full article

Cardiopulmonary Exercise Testing (CPET) is the gold standard for the functional assessment in patients with heart failure (HF), providing objective parameters that reflect the integrated response of the cardiovascular, respiratory, and muscular systems, in addition several CPET-derived variables have shown independent prognostic value in patients with both reduced (HFrEF) and preserved ejection fraction (HFpEF) HF. This review aims to critically analyze the main CPET prognostic variables in heart failure, highlighting their underlying pathophysiological mechanisms, their predictive capacity for mortality and hospitalizations, and their integration into clinical decision-making models. Parameters such as peak oxygen uptake (VO₂), minute ventilation/carbon dioxide production (VE/VCO₂) slope, periodic breathing (or exercise oscillatory ventilation—EOV), anaerobic threshold (AT), oxygen pulse, and VO₂/work slope provide complementary insights into clinical risk; moreover, the combination of multiple CPET variables allows for more accurate risk stratification compared to the isolated use of each parameter. Multiparametric prognostic models such as the Metabolic Exercise Cardiac Kidney Index (MECKI) score, the Seattle Heart Failure Model, and the Heart Failure Survival Score (HFSS) incorporate these variables alongside clinical and laboratory data to guide advanced management and therapeutic decisions, including heart transplantation or left ventricular assistant device (LVAD) implantation. For these reasons, CPET-derived variables are essential prognostic tools in heart failure. Beyond improving risk stratification, their integration into multiparametric models supports a more personalized therapeutic approach, including tailored pharmacological management. Full article

Background: Gorlin syndrome (GS) is a rare autosomal dominant disorder, associated with pathogenic PTCH1 or SUFU variants, predisposing to tumors such as basal cell carcinoma, medulloblastoma (MB), odontogenic keratocyst, and, rarely, cardiac fibroma (CF). MB occurs in ~5% of GS cases, typically in early childhood, while CF appears in 1–3%. Their coexistence in childhood is extremely rare. This report describes a pediatric GS case with synchronous MB and CF, focusing on the management priorities between oncologic and cardiac interventions. Methods: A 15-year follow-up is reported for a girl diagnosed at 22 months with desmoplastic/nodular MB and left ventricular CF. GS diagnosis was based on clinical features, imaging, and confirmation of a pathogenic PTCH1 variant (c.3306+1G>T). A literature narrative review on CF in GS was also conducted. Results: MB gross total resection was followed by chemotherapy, during which ventricular tachycardia episodes occurred, managed with cardioversion and antiarrhythmics. Given the favorable prognosis of early-treated MB in GS, oncologic therapy was prioritized. Cardiac status was monitored with ECG, Holter, echocardiography, and cardiac MRI. An adapted AIEOP protocol minimized cardiotoxicity. CF was managed conservatively, with no further arrhythmias and preserved ventricular function throughout 15 years. MB has not recurred. Conclusions: In GS patients with concurrent MB and CF, prioritizing MB treatment and adopting a conservative, closely monitored approach to CF can yield excellent long-term outcomes. In children with MB, especially syndromic forms, routine echocardiography is recommended to detect CF. This case underscores the value of multidisciplinary care in managing complex GS presentations. Full article

Left ventricular diastolic dysfunction (LVDD) is characterized by impaired ventricular relaxation and increased chamber stiffness during diastole, resulting in increased left ventricular filling pressures. It represents a highly prevalent yet frequently underdiagnosed cardiac condition with significant clinical implications, serving as a major contributor to heart failure with preserved ejection fraction (HFpEF), particularly among elderly individuals and those with hypertension, diabetes mellitus, obesity, or coronary artery disease. Multiple studies have identified the progression of LVDD as a marker of adverse prognosis, associated with increased morbidity and mortality, highlighting the importance of early recognition and targeted therapeutic strategies to improve diastolic function and clinical outcomes. This review summarizes the pathophysiology, current diagnostic strategies, and treatment options for LVDD, emphasizing its importance in clinical practice. Full article

Background: In arterial hypertension (AH), adverse hemodynamic consequences in the left atrium (LA) are often observed. The prognostic significance of functional vs. structural LA abnormalities among high-risk AH patients (with heart failure with preserved ejection fraction [HFpEF]) are not clearly defined. Objective: to compare the prognostic significance of structural vs. functional LA indices in hypertensive patients with HFpEF. Methods: We retrospectively selected 274 hypertensive patients with AH, HFpEF, and sinus rhythm. The primary outcome was a composite of all-cause mortality and HF hospitalization; the median follow-up was 4.3 (2.5–6.5) years. Results: The composite endpoint occurred in 133 patients (49%). Kaplan–Meier analysis revealed significantly lower event-free survival rates in patients with lower functional LA reservoir strain [LASr] (≤median) compared to patients with higher LASr (p < 0.001). Patients with higher structural LA volume index (LAVI) as well as with higher LV filling pressure (E/e′ ratio) or more severe left ventricular (LV) hypertrophy (higher LV mass index) had a similar prognosis to patients with lower values. In multivariable analysis, decreased LASr and paroxysmal atrial fibrillation (AF) were independently associated with adverse outcomes after accounting for potential confounders (for both p < 0.05). Conclusions: Among patients with AH and HFpEF, the functional LA parameter LASr seems to be more effective than the structural LA parameter LAVI, or traditional indexes of LV hypertrophy and filling pressure, in predicting prognosis. Full article

High induction doses of propofol (PPF) may cause adverse effects. Co-induction protocols can reduce doses and enhance the beneficial profile of each drug. This study compared the induction quality, clinical, and echocardiographic effects of two rapid co-inductions in healthy, unpremedicated dogs. Baseline cardiorespiratory and echocardiographic variables were recorded. Dogs randomly received rapid intravenous PPF (2.2 mg/kg) with either dexmedetomidine (3 µg/kg) (PROPODEX; n = 12) or butorphanol (0.4 mg/kg) (PROPOBUT; n = 12). Induction quality, additional PPF dose, intubation time, cardiorespiratory parameters (2, 5, 10, 15, 20 min), and recovery quality were recorded. A second echocardiography was performed 5 min after induction. Induction quality was significantly higher in PROPODEX, with significantly lower additional PPF requirements and shorter intubation time. In PROPODEX, heart rate significantly decreased from baseline and was significantly lower than PROPOBUT, while arterial blood pressures significantly increased in PROPODEX and decreased in PROPOBUT from baseline. PROPOBUT significantly reduced left ventricular (LV) diastolic volumes and increased E/A ratio, while PROPODEX significantly increased LV systolic diameter and volumes, and significantly decreased fractional shortening. Recovery was significantly faster and better in PROPODEX. PROPOBUT preserved cardiac function but caused hypotension. PROPODEX provided superior induction and recovery quality, and cardiorespiratory stability, with only mild systolic function depression. Full article

Background and Clinical Significance: Percutaneous vertebroplasty is an effective procedure for patients with osteoporosis and fractures. However, notable side effects may occur. Cement leakage into the vascular system may be incidental, with effects ranging from asymptomatic to life-threatening conditions. The treatment of extravasation of the cement and pulmonary embolism does not have definitive guidelines and requires specific treatment for every patient, ranging from basic anticoagulation to surgical procedures. Cement embolisms without periprocedural complications—such as cardiac perforation or massive pulmonary embolism—are often stable. However, symptomatic presentations with hemodynamic instability can occur. We report a clinically significant case of symptomatic cement pulmonary embolism resulting in shock. Case Presentation: A 68-year-old female patient with osteoporosis and a history of cement vertebroplasty two weeks prior to admission for vertebral compression fracture arrived with a three-day history of left leg swelling and shortness of breath. Vital signs revealed hypotension and the lab tests showed elevated lactate and D-dimer, mild leucocystosis, normal PCT and a threefold increase in CRP. The ultrasound confirmed complete thrombosis of the left external iliac and common femoral vein. The thoraco-abdominal CT demonstrated the extravasation of the cement from vertebroplasty to the inferior vena cava, lumbar veins, coupled with multiple cement structures in the segmental lobar pulmonary arteries. The echocardiography showed preserved right ventricular function. The management included intravenous fluids, anticoagulation and norepinephrine. Conclusions: This case underlines that cement pulmonary embolism following vertebroplasty, while typically undetected, can result in significant hemodynamic compromise even in the absence of right heart failure, potentially mediated by an inflammatory response. Importantly, it highlights the possibility of delayed clinical deterioration, with instability manifesting two weeks post-procedure—distinct from the more commonly observed immediate peri-procedural complications or other stable delayed presentation. Full article

The interaction between the left ventricle (LV) and aorta is critical for cardiovascular performance, particularly under pathophysiological conditions. However, how changes in LV mechanics, including preload and afterload, affect aortic function via LV–aorta interactions remains poorly understood due to the challenges associated with varying loading conditions in vivo. To overcome these limitations, the effects of varying LV preload or afterload on LV and aortic functions via LV–aorta interactions are quantified using ex vivo beating rat heart experiments in this study. In five healthy rat hearts under retrograde Langendorff and antegrade working heart perfusion, LV pressure, volume, aortic pressure, and aortic blood flow were measured. Key findings include the following: (1) under Langendorff perfusion, aortic flow increased linearly with LV developed pressure (DP), with a slope of 4.04 mmHg·min/mL; under working heart constant-pressure perfusion (2) a 12.4% increase in afterload decreased aortic flow by 58.8%, indicating that elevated aortic pressure significantly impedes aortic flow; (3) a 10.4% increase in preload enhanced aortic flow by 44.2%, driven primarily by an increase in LV DP that promoted forward flow. These results suggest that aortic pressure predominantly influences aortic flow under varying afterload conditions, whereas LV DP plays the dominant role in regulating aortic flow under different preload conditions. These findings demonstrate that the heart’s loading conditions strongly impact aortic blood flow. Specifically, elevated LV afterload can severely limit forward blood flow, while increased LV filling with increased LV preload can enhance blood flow, highlighting the importance of managing both afterload and preload in conditions such as hypertension and heart failure with preserved ejection fraction. This pilot study also established the feasibility of experimental platforms for coronary and ventricular function analysis. Full article

Objective: Fabry disease (FD) is a rare, X-linked lysosomal storage disorder resulting from deficient α-galactosidase A activity, which can manifest as left ventricular hypertrophy (LVH). We aimed to assess the prevalence of FD in an unselected cohort of patients with unexplained LVH. Methods and results: We screened 202 unrelated adults with LVH using enzymatic assays for α-galactosidase A in dried blood spots. Patients with low activity underwent GLA gene sequencing. Echocardiographic parameters were evaluated according to ESC guidelines. FD was diagnosed in 4 women (2%), each carrying distinct pathogenic GLA mutations. All affected individuals showed normal or borderline enzyme activity. Cardiac, renal, or neurological symptoms were observed variably among patients. Echocardiographic findings revealed slightly lower wall thickness and preserved systolic function in FD patients compared to those without FD. Cascade genetic screening identified 16 additional family members with the same mutations. One patient (0.5%) was incidentally diagnosed with Gaucher disease based on syndromic features and enzymatic testing. Conclusions: FD was identified in 2% of patients with unexplained LVH, who were females. Enzyme-based screening followed by targeted genetic testing is a cost-effective strategy for FD detection. Early diagnosis is essential for prompt treatment and family counselling, underscoring the importance of routine FD screening in patients with LVH of unclear aetiology. Our findings support the use of targeted screening for Fabry disease in patients with LVH and systemic features, and highlight the potential to identify other lysosomal disorders in selected cases. Full article

Background: Hereditary transthyretin amyloidosis (ATTRv) is a rare, autosomal dominant multisystem disease caused by pathogenic variants in the transthyretin (TTR) gene. Although ATTRv is classically categorized into “cardiac” and “neurologic” phenotypes, recent evidence suggests a more complex and overlapping disease spectrum. Objectives: This study investigates the relationship between neurological staging and cardiac involvement through an integrated assessment of patients with confirmed TTR mutations. Methods and Results: Fifty-eight patients with genetically confirmed ATTRv (41% female, mean age 60 ± 15 years) were evaluated. Genotypes included Phe64Leu, Val30Met, Val122Ile, and others. Patients were stratified by neurological stage: G0 (asymptomatic carriers), G1 (symptomatic but ambulatory), and G2 (requiring walking support). Cardiac assessment included clinical evaluation, echocardiography with tissue Doppler, global longitudinal strain (GLS), and NT-proBNP levels. Cardiac markers worsened with neurological stage. NT-proBNP, left ventricular mass index, maximal wall thickness, and E/E′ ratio increased progressively, while GLS declined (G0: –19%, G1: –14%, G2: –13%; p < 0.001), indicating a progressive structural and functional myocardial disease. Ejection fraction remained preserved. Neurological stage independently predicted cardiac dysfunction after age adjustment. Conclusions: This is the first study to assess cardiac abnormalities across neurological stages in a well-characterized cohort of ATTRv patients. Cardiac involvement in ATTRv begins early, even in asymptomatic carriers, and progresses with neurological deterioration. GLS and diastolic parameters are sensitive indicators of early myocardial dysfunction, highlighting the need for integrated neurologic and cardiac monitoring in all patients with ATTRv, regardless of initial phenotype. Full article