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Background: Cardiac involvement is common in Fabry disease (FD) and typically manifests with left ventricular hypertrophy (LVH). Patients with FD are frequently misdiagnosed, and this is mainly related to the lack of disease awareness among clinicians. The aim of this study was to determine whether providing a targeted educational intervention on FD may enhance FD diagnosis. Methods. This research was designed as a single-arm before-and-after intervention study and evaluated the impact of providing a specific training on FD to cardiologists from different Italian centers, without experience in rare diseases. In the 12-month period after the educational intervention, the rate of FD screening and diagnosis was assessed and compared with those conducted in the two years preceding the study initiation. Results: Fifteen cardiologists participated to this study, receiving a theoretical and practical training on FD. In the two previous two years, they conducted 12 FD screening (6/year), and they did not detect any cases of FD. After the training, they performed 45 FD screenings, with an eight-fold rise in the annual screening rate. The screened population (age: 61 ± 11 years, men: 82%) was mainly composed of patients with unexplained LVH (n = 43). There were four new FD diagnoses and, among of them, three had a late-onset GLA variant. After the cascade genetic screening, 11 affected relatives and 8 heterozygous carriers were also detected. Conclusions: A targeted educational intervention for cardiologists allowed the identification of four new families with FD. Enhancing FD awareness is helpful to reduce the diagnostic and therapeutic delay.

Galectin-3 is a circulating biomarker of fibrosis whose prognostic role in pulmonary arterial hypertension (PAH) has not been fully explored. We undertook a pilot study to evaluate the relationship between galectin-3 plasma levels and validated risk scores in PAH. The study included 70 PAH patients admitted to a single referral center from June 2016 to June 2018. Patients were stratified according to the REVEAL 2.0 risk score, according to the parameters suggested by the European Society of Cardiology and European Respiratory Society (ESC/ERS) Guidelines, and according to a focused echocardiographic assessment of right heart performance. The association between galectin-3 levels and risk profiles was evaluated by generalized linear regression model with adjustment for etiology. Galectin-3 plasma levels increased linearly in the three risk strata based on the REVEAL 2.0 score (from 16.0 ± 5.7 in low-risk to 22.4 ± 6.3 in intermediate-risk and in 26.9 ± 7.7 ng/mL in high-risk patients (p for trend < 0.001). Galectin-3 levels were significantly lower in low-risk patients defined according to the prognostic parameters of ESC/ERS Guidelines (delta between low-risk and intermediate/high-risk = −9.3, 95% CI −12.8 to −5.8, p < 0.001, p < 0.001). Additionally, galectin-3 levels were lower in the low-risk profile defined on the basis of the echocardiographic evaluation of right heart performance (delta between low-risk and intermediate-/high-risk = −6.3, 95% CI −9.9 to −2.7, p = 0.001). Galectin-3 plasma levels are directly associated with several risk profiles in PAH patients. The prognostic role of this biomarker in PAH is worthwhile to be explored in larger prospective studies.

Cardiac arrest and electrical storm are two major emergencies. The use of beta blockers in these clinical conditions has been proposed however, definite data about the emergency use of beta blockers in recurrent ventricular tachycardia with pulse have never been published. We report two cases of recurrent ventricular tachycardia which were unresponsive to the standard pharmacological treatment but successfully responsive to esmolol infusion. Both cases showed a reduced left ventricle ejection fraction due to an acute myocardial infarction and to an idiopathic dilated cardiomyopathy respectively. Nevertheless, the use of esmolol was shown to be both safe and effective without inducing low output syndrome.

Razionale. La telemedicina è una risorsa innovativa e impattante nel management dello scompenso cardiaco. Presso la Cardiologia dell’Ospedale di Piacenza è stato avviato un progetto pilota di telemedicina denominato “TeleCuore”, rivolto a pazienti con scompenso cardiaco. In questo lavoro vengono descritti il modello organizzativo adottato e i primi risultati di TeleCuore in termini di impatto clinico e soddisfazione dei pazienti.Materiali e metodi. Il progetto ha coinvolto pazienti con scompenso cardiaco de novo o in follow-up ambulatoriale con recenti episodi di instabilità clinica e competenze digitali adeguate. Un team multidisciplinare, coordinato da un infermiere case manager, ha gestito il monitoraggio e la formazione dei pazienti. Utilizzando la piattaforma AdiLife e dispositivi multiparametrici, sono stati monitorati nel tempo parametri vitali e clinici, con analisi degli alert da parte di infermieri e tecnici della fisiopatologia cardiocircolatoria e perfusione cardiovascolare con il costante supporto del personale medico cardiologico. Oltre ad essere monitorati al fine di intercettare precocemente eventuali instabilizzazioni e favorire l’ottimizzazione delle terapie, i pazienti sono stati sottoposti a questionari per misurare l’impatto del progetto su soddisfazione, consapevolezza della malattia e difficoltà nell’uso della strumentazione.Risultati. In totale, 257 pazienti hanno completato almeno 6 mesi di follow-up. Di questi, 32 (12.5%) hanno mostrato segni di scompenso cardiaco. In 18 casi (56.2%), TeleCuore ha consentito il riconoscimento precoce dell’instabilizzazione con implementazione della gestione ambulatoriale. 14 pazienti (43.8%) sono stati inviati al Pronto Soccorso, 10 dei quali a seguito di anomalie parametriche associate a sintomi emersi al colloquio telefonico. Solo 5 (15.6%) hanno necessitato di ricovero. Durante il follow-up, si è osservato un aumento nell’uso delle terapie raccomandate dalle linee guida. I questionari hanno evidenziato un impatto positivo di TeleCuore su monitoraggio, gestione della terapia e rapporto medico-paziente.Conclusioni. TeleCuore ha dimostrato la fattibilità, l’apprezzamento e l’efficacia della gestione dello scompenso cardiaco tramite telemedicina, con benefici nella riduzione delle ospedalizzazioni, ottimizzazione delle terapie e incremento della consapevolezza della malattia.

Cardiogenetics aims to identify the genetic causes of inherited cardiac diseases, with significant implications for early diagnosis, clinical management, and prevention of sudden cardiac death in both patients and their relatives. In Italy, however, access to structured cardiogenetic services remains uneven and is often limited to tertiary care centers, partly due to economic sustainability constraints. We developed a second-level outpatient model that integrates telemedicine to facilitate access to genetic testing. The pathway includes pre-test genetic counseling performed by the cardiologist based on clinical and instrumental phenotype assessment, molecular analysis through blood sample collection and referral to the Medical Genetics Unit of Ferrara, and post-test counseling conducted as a teleconsultation, involving remote participation of a geneticist via a dedicated telemedicine platform (c4C Dedalus). In case of a positive result, the patient undergoes an in-person cardiology consultation in Piacenza, while negative or uncertain results are managed through further phenotypic or familial investigations as needed. In the first year of activity, 78 probands and 20 first-degree relatives underwent genetic testing. The positivity rates, including relevant variants of uncertain significance, were 44% for hypertrophic cardiomyopathy, 75% for non-dilated left ventricular cardiomyopathy, 20% for dilated cardiomyopathy, 100% for arrhythmogenic right ventricular cardiomyopathy, 100% for long QT syndrome, and 50% for Brugada syndrome. This model demonstrates that telemedicine can be an effective and sustainable tool to extend access to specialized genetic counseling in peripheral settings, improving equity of care and optimizing the use of resources for the management of inherited cardiomyopathies.

Telemedicine is an innovative and impactful resource in the management of heart failure. At the Cardiology Department of the Piacenza Hospital, a pilot telemedicine project called \"TeleCuore\" has been launched, aimed at patients with heart failure. This article describes the organizational model adopted and the initial results of TeleCuore regarding its clinical impact and patient satisfaction. The project involved patients with de novo heart failure or those in outpatient follow-up with recent episodes of clinical instability and adequate digital skills. A multidisciplinary team, coordinated by a case manager nurse, managed patient monitoring and education. Using the AdiLife platform and multiparametric devices, vital and clinical parameters were monitored over time, with alert analysis by nurses and technicians in cardiocirculatory pathophysiology and cardiovascular perfusion, with continuous support from the cardiology medical staff. In addition to being monitored to detect potential instabilities early and optimize therapies, patients were subjected to questionnaires to measure the project's impact on satisfaction, disease awareness, and difficulties in using the equipment. Overall, 257 patients completed at least 6 months of follow-up. Of these, 32 (12.5%) showed signs of heart failure. In 18 cases (56.2%), TeleCuore allowed for the early detection of instability, enabling outpatient management. A total of 14 patients (43.8%) were sent to the emergency department, 10 of whom were referred following parametric anomalies associated with symptoms identified during telephone interviews. Only 5 patients (15.6%) required hospitalization. During the follow-up, an increase in the use of guideline-recommended therapies was observed. The questionnaires highlighted a positive impact of TeleCuore on monitoring, therapy management, and the doctor-patient relationship. TeleCuore has demonstrated the feasibility, appreciation, and effectiveness of managing heart failure through telemedicine, with benefits in reducing hospitalizations, optimizing therapies, and increasing disease awareness.

Abstract Introduction The BRING-UP 3 Heart Failure (HF) study was designed to evaluate the real-world implementation of guideline-directed medical therapy (GDMT) for patients with heart failure with reduced ejection fraction (HFrEF), given the limited evidence on the uptake of the contemporary four-pillar treatment strategy. Methods BRING-UP 3 HF study is an observational, prospective, nationwide investigation encompassing 179 sites. This analysis includes HFrEF patients enrolled in the ambulatory and hospitalized cohorts with complete pharmacological data at 6-month follow-up. The objective was to describe the use of the four GDMT pillars after 6 months. Results Among 3201 HFrEF patients enrolled, 142 (4.4%) had died by 6 months, and treatment data were available for 2950 patients. Mean age was 69 ± 11 years (26.6% > 75 years), 18.0% were female. Prescription rates of GDMT were high at baseline and remained stable over 6-months, with a shift from ACE-I/ARBs to ARNIs, and a modest increase in SGLT2i use. A significant reduction in diuretic prescription was also observed. Quadruple therapy was prescribed in 64.3% of patients at 6 months versus 63.9% at baseline/discharge (P = NS), while quadruple therapy including ARNI went from 52.9% to 55.9%, P < .0001. Dose up-titration of GDMT remained suboptimal, with most agents prescribed at <50% of target doses. Discontinuation rates at follow-up were very low. Conclusion In this large nationwide cohort, guideline-directed therapies for HFrEF were widely implemented and maintained over 6 months with excellent treatment persistence. However, dose optimization remains a key unmet need in routine clinical practice. Graphical Abstract Graphical Abstract Six-month management of heart failure patients enrolled in the BRING-UP 3 HF study For image description, please refer to the figure legend and surrounding text.

Razionale. La cardiogenetica consente l’identificazione delle cause genetiche delle malattie cardiache ereditarie, con implicazioni rilevanti per la diagnosi precoce, la gestione clinica e la prevenzione della morte cardiaca improvvisa nei pazienti e nei loro familiari. In Italia, tuttavia, l’accesso a percorsi strutturati è disomogeneo e spesso limitato ai centri di terzo livello, con ostacoli legati anche alla sostenibilità economica del sistema.Materiali e metodi. È stato sviluppato un modello ambulatoriale di secondo livello che integra la telemedicina per favorire l’accesso alle indagini genetiche. Il percorso si articola in counseling genetico pre-test condotto dal cardiologo sulla base del fenotipo clinico, analisi molecolare con invio del campione biologico alla U.O.C. di Genetica Medica di Ferrara e counseling post-test realizzato come teleconsulto, con la partecipazione remota del genetista tramite piattaforma dedicata (c4C Dedalus). In caso di risultato positivo è prevista una valutazione in presenza presso la U.O. di Cardiologia di Piacenza, mentre in caso di test negativo o presenza di varianti di significato incerto il paziente viene rivalutato per eventuali approfondimenti fenotipici o familiari.Risultati. Nel primo anno di attività sono stati sottoposti ad analisi genetica 78 probandi e 20 familiari di primo grado. I tassi di positività, comprensivi dei casi con varianti rilevanti di significato incerto, sono risultati pari a 44% per la cardiomiopatia ipertrofica, 75% per la cardiomiopatia non dilatativa del ventricolo sinistro, 20% per la cardiomiopatia dilatativa, 100% per la cardiomiopatia aritmogena del ventricolo destro, 100% per la sindrome del QT lungo e 50% per la sindrome di Brugada.Conclusioni. Il modello proposto dimostra come la telemedicina possa rappresentare uno strumento efficace e sostenibile per estendere l’accesso alla consulenza genetica specialistica anche in contesti periferici, migliorando l’equità dell’assistenza e ottimizzando le risorse dedicate alla gestione delle cardiomiopatie ereditarie.

Demographic and social changes in the last decades have resulted in improvements in health and longevity. The survival of elderly people has improved significantly and thus centenarians are becoming the fastest growing population group. Environmental, genetic, and accidental factors have influenced the human life span. Researchers have gained substantial evidence that advanced glycation end products may play an important role in the processes of physiological aging. The aim of the present study was to investigate any differences in the frequencies of −374T/A polymorphism in subjects aged >90 years and in middle-aged individuals. We observed association between the A allele and genotype homozygous for this allele (AA) with a longer life expectancy in the male population. In particular, there was a prevalence of AA genotype and A allele in long-living subjects and a prevalence of the allele T in middle-aged subjects, indicating a possible protective role of the allele A to aging. In conclusion, our results support the hypothesis that longevity is the result of a good functioning of the immune system and a presumable hyper-expression of variants of anti-inflammatory genes of immunity. The differences in the genetic regulation of inflammatory processes may influence the presence of age-related disorders.

Mitochondrial metabolism in the trabecular meshwork (TM) plays a critical role in maintaining intraocular pressure homeostasis by supporting the energy-demanding processes involved in aqueous humour outflow. In primary open-angle glaucoma, oxidative stress impairs mitochondrial function, leading to TM dysfunction. Therefore, understanding and targeting mitochondrial health in TM cells could offer a novel therapeutic strategy. Pyrroloquinoline quinone (PQQ) is a redox cofactor with antioxidant and mitochondrial-enhancing properties. However, its effects on human TM (HTM) cells remain largely unexplored. This study examined PQQ cytoprotective effects against H2O2-induced oxidative stress in HTM cells. Seahorse analyses revealed that PQQ alone improves mitochondrial respiration and ATP production. Moreover, PQQ mitigates H2O2-induced cellular damage and preserves mitochondrial function by normalising proton leak and increasing ATP levels. Furthermore, TEM and confocal microscopy showed that PQQ can partially alleviate structural damage, restoring mitochondrial network morphology, thereby leading to reduced cell death. Although these protective effects seem not to be mediated by changes in mitochondrial content or activation of the SIRT1/PGC1-α pathway, they may involve modulation of SIRT3, a key factor of mitochondrial metabolism and homeostasis. Overall, these results suggest that PQQ may represent a promising candidate for restoring mitochondrial function and reversing oxidative damage in HTM cells.