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Hypertrophic cardiomyopathy (HCM) is a genetic disease characterized by unexplained left ventricular hypertrophy (LVH), diastolic dysfunction, and increased sudden-death risk. Early detection of the phenotypic expression of the disease in genetic carriers without LVH (Gen+/Phen−) is crucial for emerging therapies. This clinical study aims to identify echocardiographic predictors of phenotypic development in Gen+/Phen−. Sixteen Gen+/Phen− (one subject with troponin T, six with myosin heavy chain-7, and nine with myosin-binding protein C3 mutations), represented the study population. At first and last visit we performed comprehensive 2D speckle-tracking strain echocardiography. During a follow-up of 8 ± 5 years, five carriers developed LVH (LVH+). At baseline, these patients were older than those who did not develop LVH (LVH−) (30 ± 8 vs. 15 ± 8 years, p = 0.005). LVH+ had reduced peak global strain rate during the isovolumic relaxation period (SRIVR) (0.28 ± 0.05 vs. 0.40 ± 0.11 1/s, p = 0.048) and lower global longitudinal strain (GLS) (−19.8 ± 0.4 vs. −22.3 ± 1.1%; p < 0.0001) than LVH- at baseline. SRIVR and GLS were not correlated with age (overall, p > 0.08). This is the first HCM study investigating subjects before they manifest clinically significant or relevant disease burden or symptomatology, comparing at baseline HCM Gen+/Phen− subjects who will develop LVH with those who will not. Furthermore, we identified highly sensitive, easily obtainable, age- and load-independent echocardiographic predictors of phenotype development in HCM gene carriers who may undergo early preventive treatment.

Controversial data exist regarding the impact of body mass index (BMI) on TAVI outcomes. Thirteen TAVI studies were included and analyzed for the incidence of procedural complications, 30-day, and long-term all-cause mortality. Three comparisons were executed: (1) underweight versus normal weight, (2) overweight versus normal weight, and (3) obese versus normal weight patients. Underweight patients (BMI <20 kg/m2) had similar 30-day all-cause mortality compared with the normal, although they displayed a significant worse survival at long-term follow-up (hazard ratio 1.68, 95% confidence interval (CI) 1.09 to 2.59, p = 0.02). Underweight patients showed a higher incidence of major and life-threatening bleedings (2,566 patients, odds ratio 1.64, 95% CI 1.10 to 2.45, p = 0.02) and of major vascular complications (2,566 patients, odds ratio 1.86, 95% CI 1.16 to 2.98, p = 0.01), compared with normal weight patients. Overweight patients (BMI ≥25 and <30 kg/m2) display similar 30-day and long-term all-cause mortality, as well as similar procedural complication rate compared with normal weight patients. Obese patients (BMI >30 kg/m2) had similar 30-day all-cause mortality rates compared with the normal weight category, whereas they displayed a significant better survival at long-term (hazard ratio 0.79, 95% CI 0.67 to 0.93, p = 0.004). Procedural complications did not differ between obese and normal body weight patients. In conclusion, a low BMI is linked to a significantly worse prognosis after TAVI. Therefore, BMI represents an important and handily tool that might be used in the risk prediction of patients to be addressed for TAVI.

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.

Transcatheter aortic valve implantation (TAVI) is an effective alternative therapy in selected patients with severe aortic stenosis. The role and effects of coexistent moderate to severe mitral regurgitation (msMR) in patients who undergo TAVI remain unclear. Thirteen studies enrolling 4,839 patients who underwent TAVI, including patients with msMR, were considered in a meta-analysis and analyzed for all-cause-mortality; a further meta-analysis was performed to assess mitral regurgitation (MR) evolution after TAVI. In patients with msMR, all-cause-mortality after TAVI was significantly increased at 30-day (effect size [ES] −0.18, 95% confidence interval [CI] −0.31 to −0.04, I2 = 46.51, Q = 7.48), 1-year (ES −0.22, 95% CI −0.36 to −0.08, I2 = 56.20, Q = 11.41), and 2-year (ES −0.15, 95% CI −0.27 to −0.02, I2 = 0.00, Q = 2.64) follow-up compared with patients with absent or mild MR, independent of baseline left ventricular ejection fraction. Interestingly, the impact of msMR on outcomes was statistically stronger when the CoreValve system was used. TAVI was also associated with an improvement in MR entity at 3- and 6-month follow-up (overall ES −0.19, 95% CI −0.37 to −0.01, I2 = 61.52, Q = 10.39). In conclusion, the presence of preoperative msMR in patients with severe, symptomatic aortic stenosis who undergo TAVI negatively affects outcomes after TAVI. In addition, in the same group of patients, a trend toward a reduction in MR severity was observed. Whether the decrease in MR severity affects mortality after TAVI remains to be defined. •Moderate to severe MR in patients with severe AS negatively affects outcomes after TAVR.•This finding is particularly true when the CoreValve system is used.•TAVR is associated with a trend toward a reduction in MR severity.•Further studies including direct comparisons of different valves are warranted.•Whether MR recovery affects survival is still a matter of concern.

Arterial hypertension is a leading risk factor for developing atrial fibrillation. CHA 2 DS 2 -VASc score can help to decide if patients with atrial fibrillation need anticoagulation. Whether CHA 2 DS 2 -VASc may predicts incident atrial fibrillation and how it interacts with left atrial dilatation is unknown. We tested this hypothesis in a large registry of treated hypertensive patients. From 12154 hypertensive patients we excluded those with prevalent atrial fibrillation (n 51), without follow-up (n 3496), or carotid ultrasound (n 1891), and low ejection fraction (i.e. <50%, n 119). A CHA 2 DS 2 -VASc score ≥3 was compared with CHA 2 DS 2 -VASc score ≤2. Incident symptomatic or occasionally detected atrial fibrillation was the end-point of the present analysis. At baseline, 956 (15%) patients exhibited high CHA 2 DS 2 -VASc; they were older, most likely to be women, obese and diabetic, with lower glomerular filtration rate, and higher prevalence of left ventricular hypertrophy, left-atrial dilatation and carotid plaque (all p < 0.005). Prevalent Stroke/TIA was found only in the subgroup with high CHA 2 DS 2 -VASc. During follow-up (median = 54 months) atrial fibrillation was identified in 121 patients, 2.57-fold more often in patients with high CHA 2 DS 2 -VASc (95% Cl 1.71–4.86 p < 0.0001). In multivariable Cox analysis, CHA 2 DS 2 -VASc increased incidence of atrial fibrillation by 3-fold, independently of significant effect of left-atrial dilatation (both p < 0.0001) and other markers of organ damage. Incident AF is more than doubled in hypertensive patients with CHA 2 DS 2 -VASc ≥3. Coexisting CHA 2 DS 2 -VASc score >3 and LA dilatation identify high risk subjects potentially needing more aggressive management to prevent AF and associated cerebrovascular ischemic events.

Aortic stenosis (AS) is a valvular heart disease that significantly contributes to cardiovascular morbidity and mortality worldwide. The condition is characterized by calcification and thickening of the aortic valve leaflets, resulting in a narrowed orifice and increased pressure gradient across the valve. AS typically progresses from a subclinical phase known as aortic sclerosis, where valve calcification occurs without a transvalvular gradient, to a more advanced stage marked by a triad of symptoms: heart failure, syncope, and angina. Echocardiography plays a crucial role in the diagnosis and evaluation of AS, serving as the primary non-invasive imaging modality. However, to minimize misdiagnoses, it is crucial to adhere to a standardized protocol for acquiring echocardiographic images. This is because, despite continuous advances in echocardiographic technology, diagnostic errors still occur during the evaluation of AS, particularly in classifying its severity and hemodynamic characteristics. This review focuses on providing guidance for the imager during the echocardiographic assessment of AS. Firstly, the review will report on how the echo machine should be set to improve image quality and reduce noise and artifacts. Thereafter, the review will report specific emphasis on accurate measurements of left ventricular outflow tract diameter, aortic valve morphology and movement, as well as aortic and left ventricular outflow tract velocities. By considering these key factors, clinicians can ensure consistency and accuracy in the evaluation of AS using echocardiography.

Hypertrophic cardiomyopathy (HCM) is a genetic disease with heterogeneous clinical presentation and prognosis. Within the broad phenotypic expression of HCM, there is a subgroup of patients with a left ventricular (LV) apical aneurysm, which has an estimated prevalence between 2% and 5%. LV apical aneurysm is characterized by an area of apical dyskinesis or akinesis, often associated with regional scarring. To date, the most accepted pathomechanism of this complication is, in absence of coronary artery disease, the high systolic intra-aneurysmal pressure, which, combined with impaired diastolic perfusion from lower stroke volume, results in supply–demand ischemia and myocardial injury. Apical aneurysm is increasingly recognized as a poor prognostic marker; however, the efficacy of prophylactic anticoagulation and/or intracardiac cardioverted defibrillator (ICD) in improving morbidity and mortality is not yet clearly demonstrated. This review aims to elucidate the mechanism, diagnosis and clinical implication of LV aneurysm in patients with HCM.

Epidemiological studies have documented a high incidence of diabetes in hypertensive patients.Insulin resistance is defined as a less than expected biologic response to a given concentration of the hormone and plays a pivotal role in the pathogenesis of diabetes. However, over the last decades, it became evident that insulin resistance is not merely a metabolic abnormality, but is a complex and multifaceted syndrome that can also affect blood pressure homeostasis. The dysregulation of neuro-humoral and neuro-immune systems is involved in the pathophysiology of both insulin resistance and hypertension. These mechanisms induce a chronic low grade of inflammation that interferes with insulin signalling transduction. Molecular abnormalities associated with insulin resistance include the defects of insulin receptor structure, number, binding affinity, and/or signalling capacity. For instance, hyperglycaemia impairs insulin signalling through the generation of reactive oxygen species, which abrogate insulin-induced tyrosine autophosphorylation of the insulin receptor. Additional mechanisms have been described as responsible for the inhibition of insulin signalling, including proteasome-mediated degradation of insulin receptor substrate 1/2, phosphatase-mediated dephosphorylation and kinase-mediated serine/threonine phosphorylation of both insulin receptor and insulin receptor substrates. Insulin resistance plays a key role also in the pathogenesis and progression of hypertension-induced target organ damage, like left ventricular hypertrophy, atherosclerosis and chronic kidney disease. Altogether these abnormalities significantly contribute to the increase the risk of developing type 2 diabetes.

Background: The influence of age and gender on strain-imaging-derived myocardial work (MW) was recently investigated in healthy subjects. No information is available on the impact of heart rate (HR) on MW. Methods: 177 healthy subjects (47% men, mean age 42 years) underwent an echo-Doppler exam, including quantification of global longitudinal strain (GLS). Cuff blood pressure was used as a surrogate of left ventricular peak pressure to estimate global work index (GWI), global constructive work (GCW), global wasted work (GWW) and global work efficiency (GWE). Statistical analyses were performed according to age and HR tertiles. Results: GWW was higher in the third HR tertile, i.e., ≥74 bpm (74.7 ± 33.6 mmHg %) than in the first HR tertile (<66 bpm) (61.0 ± 32.5 mmHg %) (p < 0.02). In the pooled population, by adjusting for systolic blood pressure, GLS, E/e’ ratio and left atrial volume index, age was independently associated with GCW (β = 0.748) and GWI (β = 0.685) (both p < 0.0001) and HR with GWW (β = 0.212, p = 0.006) and GWE (β = −0.204, p = 0.007). Conclusions: In healthy subjects age shows a mild influence on GCW. HR exerts an independent negative impact on GWW and GWE: the higher HR the greater wasted work and lower myocardial efficiency.

Mitral valve prolapse (MVP) is frequently associated with mitral annular disjunction (MAD). Although numerous studies and emerging consensus suggest an arrhythmogenic role for MAD, there is a lack of large-scale meta-analyses of longitudinal studies to definitively confirm this association. We aim to evaluate the longitudinal arrhythmic risk in patients with MVP and MAD. We systematically searched PubMed, Cochrane Library, and Scopus for longitudinal studies assessing arrhythmic risk in MVP patients with MAD, from inception to May 2025. Diagnostic performance measures (sensitivity, specificity, diagnostic odds ratio, positive/negative predictive values) were pooled. Odds ratios (OR) with 95% confidence intervals (CI) were calculated using a DerSimonian and Laird random-effects model. Heterogeneity was assessed via I² and Kendall’s tau. The summary receiver operating characteristic (sROC) curve and area under the curve (AUC) were estimated using Martínez-Camblor’s method. Six studies, including 1880 MVP patients, 751 with MAD, and 1129 without, were analyzed. There was no unique method to diagnose MAD. The pooled prevalence of MAD was 36% (95% CI 22–53%). MAD was associated with increased arrhythmic risk (OR: 2.60; 95% CI: 1.99–3.38, I 2 : 14.7%, p  < 0.0001). Sensitivity and specificity were 0.512 (95% CI: 0.245–0.778) and 0.667 (95% CI: 0.506–0.828), respectively. The AUC was 0.561. MAD is linked to an increased risk of arrhythmias in MVP. However, its predictive accuracy remains limited. This is due to the possible influence of additional prognostic factors and, importantly, to the absence of standardized protocols for MAD measurement, including imaging techniques and anatomical reference points.