The Degree of Cardiovascular Autonomic Dysfunction is not Different in GBA-Related and Idiopathic Parkinson's Disease Patients: A Case-Control Instrumental Evaluation.

Background: Increased prevalence of cardiovascular autonomic failure might play a key role on Parkinson's disease (PD) progression of glucocerebrosidase gene (GBA)-mutated patients, determining a malignant phenotype of disease in these patients. Objective: To objectively characterize, for the first time, the cardiovascular autonomic profile of GBA-mutated patients compared to idiopathic PD patients by means of cardiovascular reflex tests (CRTs). Methods: This is a case-control (1 : 2) study on PD patients belonging to well-characterized prospective cohorts. For each PD patient carrying GBA variants, two idiopathic PD patients, matched for sex and disease duration at CRTs, were selected. Patients recruited in these cohorts underwent a complete clinical and instrumental evaluation including specific autonomic questionnaires, CRTs and extensive genetic analysis. Results: A total of 23 GBA-PD patients (19 males, disease duration 7.7 years) were included and matched with 46 non-mutated PD controls. GBA-mutated patients were younger than controls (59.9±8.1 vs. 64.3±7.2 years, p = 0.0257) and showed a more severe phenotype. Despite GBA-mutated patients reported more frequently symptoms suggestive of orthostatic hypotension (OH) than non-mutated patients (39.1% vs 6.5%, p = 0.001), the degree of cardiovascular autonomic dysfunction, when instrumentally assessed, did not differ between the two groups, showing the same prevalence of neurogenic OH, delayed OH and cardiovascular reflex impairment (pathological Valsalva maneuver). Conclusion: GBA-PD patients did not show different instrumental cardiovascular autonomic pattern than non-mutated PD. Our findings suggested that symptoms suggestive of OH should be promptly investigated by clinicians to confirm their nature and improve patient care and management.

New Non-Invasive Imaging Technologies in Cardiac Transplant Follow-Up: Acquired Evidence and Future Options.

Heart transplantation (HT) is the established treatment for end-stage heart failure, significantly enhancing patients' survival and quality of life. To ensure optimal outcomes, the routine monitoring of HT recipients is paramount. While existing guidelines offer guidance on a blend of invasive and non-invasive imaging techniques, certain aspects such as the timing of echocardiographic assessments and the role of echocardiography or cardiac magnetic resonance (CMR) as alternatives to serial endomyocardial biopsies (EMBs) for rejection monitoring are not specifically outlined in the guidelines. Furthermore, invasive coronary angiography (ICA) is still recommended as the gold-standard procedure, usually performed one year after surgery and every two years thereafter. This review focuses on recent advancements in non-invasive and contrast-saving imaging techniques that have been investigated for HT patients. The aim of the manuscript is to identify imaging modalities that may potentially replace or reduce the need for invasive procedures such as ICA and EMB, considering their respective advantages and disadvantages. We emphasize the transformative potential of non-invasive techniques in elevating patient care. Advanced echocardiography techniques, including strain imaging and tissue Doppler imaging, offer enhanced insights into cardiac function, while CMR, through its multi-parametric mapping techniques, such as T1 and T2 mapping, allows for the non-invasive assessment of inflammation and tissue characterization. Cardiac computed tomography (CCT), particularly with its ability to evaluate coronary artery disease and assess graft vasculopathy, emerges as an integral tool in the follow-up of HT patients. Recent studies have highlighted the potential of nuclear myocardial perfusion imaging, including myocardial blood flow quantification, as a non-invasive method for diagnosing and prognosticating CAV. These advanced imaging approaches hold promise in mitigating the need for invasive procedures like ICA and EMB when evaluating the benefits and limitations of each modality.

Cardiac magnetic resonance imaging of arrhythmogenic cardiomyopathy: evolving diagnostic perspectives.

Arrhythmogenic cardiomyopathy (ACM) is a genetically determined heart muscle disease characterized by fibro-fatty myocardial replacement, clinically associated with malignant ventricular arrhythmias and sudden cardiac death. Originally described a disease with a prevalent right ventricular (RV) involvement, subsequently two other phenotypes have been recognized, such as the left dominant and the biventricular phenotypes, for which a recent International Expert consensus document provided upgrade diagnostic criteria (the 2020 "Padua Criteria"). In this novel workup for the diagnosis of the entire spectrum of phenotypic variants of ACM, including left ventricular (LV) variants, cardiac magnetic resonance (CMR) has emerged as the cardiac imaging technique of choice, due to its capability of detailed morpho-functional and tissue characterization evaluation of both RV and LV. In this review, the key role of CMR in the diagnosis of ACM is outlined, including the supplemental value for the characterization of the disease variants. An ACM-specific CMR study protocol, as well as strengths and weaknesses of each imaging technique, is also provided. KEY POINTS: • Arrhythmogenic cardiomyopathy includes three different phenotypes: dominant right, biventricular, and dominant left. • In 2020, diagnostic criteria have been updated and cardiac magnetic resonance has emerged as the cardiac imaging technique of choice. • This aim of this review is to provide an update of the current state of art regarding the use of CMR in ACM, with a particular focus on novel diagnostic criteria, CMR protocols, and prognostic significance of CMR findings in ACM.

Metabolic syndrome and breast cancer: a dangerous association for postmenopausal women.

BACKGROUND: Breast cancer(BC) is the most common cancer in women worldwide, the relationship between metabolic syndrome(MetS) and BC needs to be better clarified. Today the early diagnosis of breast cancer(BC) is yet a challenging problem in clinical practice, so the evidence that a well identified population of postmenopausal women, affected by MetS, presents a high risk, of breast cancer occurrence, is useful for breast cancer prevention. Our study aims to assess the prevalence of metabolic syndrome, diagnosed according to current guidelines, in postmenopausal women with breast cancer, and its role as an independent risk factor. RESULTS: MetS rate was significantly higher among women affected by BC:10.1%, 33 women, than CG:5.4%, 18 women, Chi-squared4.8,Odds ratio1.94,c.i.95%,p<0.02. Metabolic cardiomyopathy rate was significantly higher among women affected by BC:5.8%, 18 women, than CG:1.8%, 6 women, Chi-squared6.5,Odds ratio3.2,c.i.95%,p<0.01. Otherwise MetS rate without cardiomyopathy was higher among women affected by BC:4.8%, 15 women, than CG:3.4%, 11 women, but in a not statistically significant way, Chi-squared0.8,Odds ratio1.35,c.i.95%,p<0.36. CONCLUSION: There was a significant relationship, in our population, between MetS and BC, adding evidence to this controversial association, the relationship was even tighter, when restricted to women affected by metabolic cardiomyopathy; otherwise it, restricted to women affected by MetS, without metabolic cardiomyopathy, was not statistically significant. Since the prevalence of MetS is increasing worldwide, just like the incidence of BC, an intervention is needed to improve physical activity and weight reduction to decrease the MetS rate.

Percutaneous Edge-to-Edge Transcatheter Mitral Valve Repair: Current Indications and Future Perspectives.

Mitral regurgitation (MR) is the most prevalent valvular heart disease (VHD) and represents an important cause of heart failure. Medical therapy has a limited role in improving symptoms and does not hinder the progression of valvular disease. Surgery is the treatment of choice for severe symptomatic MR; valve repair is currently the preferred surgical approach because it reduces peri-operative mortality and ensures a good medium- to long-term survival outcome. Nevertheless, a non-negligible proportion of patients with indications for surgical correction are considered to be at prohibitive perioperative risk, mainly because of old age and multiple comorbidities. The introduction of percutaneous interventions to clinical practice has changed the natural history of this population. Percutaneous edge-to-edge transcatheter mitral valve repair (Mitraclip®, Abbott Vascular, Menlo Park, CA) is a state-of-the-art therapy for approaching MR in patients with a high surgical risk. Despite having been only recently introduced, this transvenous transfemoral percutaneous intervention has already been performed in more than 40,000 subjects worldwide, with reassuring post-operative results in terms of safety, feasibility, mortality and morbidity. Since Mitraclip® is considered to be minimally invasive, it is currently indicated in "frail" patients with severe comorbidities. We provide a critical review of the literature to clarify current indications, procedural details, patient selection criteria, and future perspectives for this innovative technique.

Idarucizumab: What Should We Know?

BACKGROUND: Idarucizumab, a humanized monoclonal antibody fragment acting as a specific antidote for dabigatran, is approved for reversing the dabigatran-associated possible bleeding from critical sites or bleeding persisting despite local post-procedure haemostasis. Moreover, it can also be applied to reverse the dabigatran anticoagulant activity in emergency surgery or in other invasive procedure at high risk of bleeding. OBJECTIVE: In this study, we discuss idarucizumab in light of the available literature data by conducting extensive research in the PubMed, EMBASE and Cochrane Library on the topic, using idarucizumab, dabigatran and their combinations as Mesh terms, and focusing on high impact investigations. RESULTS: Several studies have demonstrated the capacity of idarucizumab to reverse laboratory measures of dabigatran-associated coagulopathy, however its efficacy and safety in real world patients are still not very clear because of the scarcity of available data which should be assessed with an extensive post market surveillance. CONCLUSION: The introduction of idarucizumab as dabigatran antidote in clinical practice represents a useful tool for clinicians. The possibility to rapidly restore the anticoagulation activity of dabigatran makes its use simpler and more manageable.

Coronary artery calcium score and coronary computed tomography angiography for patients with asymptomatic polyvascular (non-coronary) atherosclerosis.

INTRODUCTION: The primary endpoint of this study was to determine the prevalence of coronary artery disease (CAD) and coronary artery calcium score (CACS) using coronary computed tomography angiography (CCTA) among patients with polyvascular atherosclerosis (PVA). Secondary endpoints were to evaluate the prevalence of cardiovascular risk factors and determine the predictors of PVA. METHODS: The presence of atherosclerotic disease was assessed using ultrasonographic vascular examination in 515 asymptomatic patients. All patients with presence of stenosis over 50% and moderate-to-severe cardiovascular risk profile underwent CCTA to identify atherosclerotic coronary disease. RESULTS: Among 515 participants, 143 patients had no evidence of atherosclerotic plaque. Of the 372 patients with atherosclerotic plaque, 184 patients had single-vessel disease, 111 patients had double-vessel disease and 77 patients had triple-vessel disease; among these patients, those who also presented with stenosis > 50% underwent CCTA. Coronary stenosis categories included: normal (6.4%); haemodynamically insignificant (34.6%); intermediate (28.7%); significant (26.6%); and total artery occlusion (3.7%). Based on the coronary vessel involved, the patients were categorised as having single- (41.0%), double- (42.0%) or triple- (17.0%) coronary disease. CACS was significantly higher in patients with double- or triple-vessel disease when compared to those with single-vessel disease. CONCLUSION: Our study confirmed not only the high sensitivity of CCTA for highlighting CAD, but also its negative predictive value for excluding the presence of coronary stenosis or ischaemia. We found good correlation between PVA and CACS, and were able to confirm the risk factors for PVA.

Postoperative outcome of body core temperature rhythm and sleep-wake cycle in third ventricle craniopharyngiomas.

OBJECTIVE One of the more serious risks in the treatment of third ventricle craniopharyngiomas is represented by hypothalamic damage. Recently, many papers have reported the expansion of the indications for the endoscopic endonasal approach (EEA) to be used for these tumors as well. The aim of this study was to assess the outcome of sleep-wake cycle and body core temperature (BCT), both depending on hypothalamic control, in patients affected by craniopharyngiomas involving the third ventricle that were surgically treated via an EEA. METHODS All consecutive adult patients with craniopharyngiomas that were treated at one center via an EEA between 2014 and 2016 were prospectively included. Each patient underwent neuroradiological, endocrinological, and ophthalmological evaluation; 24-hour monitoring of the BCT rhythm; and the sleep-wake cycle before surgery and at follow-up of at least 6 months. RESULTS Ten patients were included in the study (male/female ratio 4:6, mean age 48.6 years, SD 15.9 years). Gross-total resection was achieved in 8 cases. Preoperative BCT rhythm was pathological in 6 patients. After surgery, these disturbances resolved in 2 cases, improved in another 3, and remained the same in 1 patient; also, 1 case of de novo onset was observed. Before surgery the sleep-wake cycle was pathological in 8 cases, and it was restored in 4 patients at follow-up. After surgery the number of patients reporting diurnal naps increased from 7 to 9. CONCLUSIONS The outcome of the sleep-wake cycle and BCT analyzed after EEA in this study is promising. Despite the short duration of the authors' experience, they consider these results encouraging; additional series are needed to confirm the preliminary findings.

Persistent Haglund's disease after conventional treatments: the innovative role of radiotherapy.

Haglund's disease, an inflammation of the retrocalcaneal bursa and a bone enlargement on the back of the heel, is a painful syndrome mainly caused by the exostotic prominence of the posterior calcaneus. Conventional treatment consists of rest, shoewear modification, medical therapy and, in selected cases, surgery. We report the case of a 59-year-old male with a history of severe atraumatic monolateral heel pain treated with foot orthotics, rest and surgery with partial regression of symptoms. Owing to the persistent heel pain and physical impairment after surgery, the patient underwent radiotherapy, which was successful in relieving his symptoms.

Tilt-induced cardioinhibitory syncope: a follow-up study in 16 patients.

INTRODUCTION: The exact clinical and prognostic significance and the therapeutic implications of asystole induced by head-up tilt test are still a matter of debate. METHODS: We assessed, by means of a semi-structured interview, the long-term outcome of cardioinhibitory syncope in all the patients who presented a tilt-induced sinus arrest of more than 3 s in our Autonomic Unit between 1996 and 2010. CONCLUSIONS: Although syncopal recurrences were common, tilt-induced asystole did not imply a poor prognosis in terms of death or major therapeutic procedures.