Publications by authors named "Limongelli G"
Objectives: To provide comprehensive information on the burden of myasthenia gravis (MG) in Italy, including the unmet needs of patients and several other aspects related to the disease, based on skilled viewpoints of MG experts.
Design: Iterative analysis conducted in accordance with the best practices of the Delphi method, including anonymity, controlled feedback, and statistical stability of consensus.
Setting And Participants: 24 clinicians, 18 public health experts and 4 patient associations experts completed all the Delphi iterations between 18 April and 3 July 2023, for a total of 46 participants from several Italian Regions.
Article Synopsis
- Left ventricular hypertrophy (LVH) is linked to serious cardiovascular issues, and identifying its cause is important for treatment; this systematic review explores how AI can help in diagnosing LVH and its causes from imaging data.
- A thorough search was conducted utilizing multiple databases, leading to the inclusion of 30 studies which mainly focused on echocardiography and cardiac magnetic resonance imaging (CMR), with a smaller number on cardiac computed tomography (CT).
- The review found that AI methods, especially deep learning and convolutional neural networks, showed good diagnostic performance, with the highest accuracy in identifying the causes of LVH rather than just detecting it; more real-life validation studies and cost-effectiveness assessments are recommended.
The knowledge of pericardial diseases has now improved, including prospective and retrospective cohort studies focusing on the pathogenesis, diagnosis, treatment, and outcomes. The complex interplay between genetic predisposition (especially for autoinflammatory conditions), inflammation, and autoimmunity is now known to trigger recurrences of pericarditis. Moreover, diagnostic capabilities have improved with the implementation of multimodality imaging, particularly cardiac magnetic resonance (CMR), to detect and monitor pericardial inflammation, to allow diagnosis in more complicated cases, and tailor the duration of therapy based on objective parameters.
View Article and Find Full Text PDFTreatment options for hypertrophic obstructive cardiomyopathy: a patient-centric review.
Expert Rev Cardiovasc Ther
November 2024
Article Synopsis
- Hypertrophic cardiomyopathy (HCM) is a condition characterized by thickening of the heart's left ventricle walls, affecting 1 in 200-500 people, with 60% of cases being hereditary.
- The review discusses various treatments for HCM, including medications (like beta-blockers and calcium channel blockers) and surgical options, along with the importance of personalized patient care in improving outcomes.
- Future treatments, such as new drugs and gene therapies, are also highlighted, emphasizing the significance of tailoring management strategies to individual patient needs and preferences.
Article Synopsis
- Acute myocarditis cases in kids are increasing in Italy, with 65 suspected cases reported in 2024, largely linked to parvovirus B19 infection.
- Among these cases, 29 children needed intensive care and there were eight fatalities, emphasizing the severity of the situation.
- The study suggests a need for better diagnosis, enhanced monitoring, and standardized treatment strategies, as only about one-third of affected children received effective intravenous immunoglobulins.
RASopathies are a group of genetic syndromes caused by germline mutations in genes involved in the RAS/Mitogen-Activated Protein Kinase signaling pathway, which regulates cellular proliferation, differentiation, and angiogenesis. Despite their involvement at different levels of this pathway, RASopathies share overlapping clinical phenotypes. Noonan syndrome is the most prevalent RASopathy, with an estimated incidence of 1 in 2500 live births, and it is typically inherited in an autosomal dominant manner, with 50% of cases involving gain-of-function mutations in the PTPN11 gene.
View Article and Find Full Text PDFAims: To assess the presence and the extent of an "aortic remodeling" in elite athletes.
Methods: A systematic review and meta-analysis of literature were conducted for studies (1981-2024) reporting echocardiographic aortic diameters of elite athletes compared to non-athlete healthy controls. Among the 5,494 studies retrieved, 21 (9,464 elite athletes vs.
Article Synopsis
- The understanding of cardiac amyloidosis has significantly evolved in the past decade, leading to better diagnostic and treatment methods.
- This complex disease requires collaboration among various medical specialists to ensure timely diagnosis, risk assessment, and effective management.
- The inter-society consensus document aims to standardize diagnostic approaches in Italy and address clinical challenges for healthcare providers working with patients suspected of having cardiac amyloidosis.
The journal retracts the article, titled "Left Ventricular Non-Compaction in Children: Aetiology and Diagnostic Criteria" [...
View Article and Find Full Text PDFArticle Synopsis
- Unicuspid aortic valve (UAV) is a rare heart condition commonly confused with the more common bicuspid aortic valve (BAV), affecting young adults primarily around 36 years old.
- This study involved a systematic review and meta-analysis of 2953 studies, focusing on the demographic and clinical characteristics of UAV, which often includes associations with conditions like aortic coarctation and Turner syndrome.
- Surgical intervention, primarily aortic valve replacement (AVR), showed high survival rates (95-98%) over ten years, highlighting the need for further research into UAV as a distinct condition apart from BAV.
This study aimed to evaluate the impact of Fabry disease (FD) on retinal microvasculature using optical coherence tomography angiography (OCTA), arterial stiffness, and the resistive index (RI) of the central retinal artery (CRA) in early disease stages. Twenty-nine genetically confirmed FD patients and twenty-six healthy controls were enrolled. Vessel density (VD) values of the superficial, deep, and choriocapillaris plexuses (SCP, DCP, and CC) were measured via OCTA.
View Article and Find Full Text PDFMyocarditis is an inflammatory condition of cardiac tissue presenting significant variability in clinical manifestations and outcomes. Its etiology is diverse, encompassing infectious agents (primarily viruses, but also bacteria, protozoa, and helminths) and non-infectious factors (autoimmune responses, toxins, and drugs), though often the specific cause remains unidentified. Recent research has highlighted the potential role of genetic susceptibility in the development of myocarditis (and in some cases the development of inflammatory dilated cardiomyopathy, i.
View Article and Find Full Text PDFArticle Synopsis
- * Analyzed data from 7948 HF patients over a minimum of 2 years, employing topological data analysis (TDA) to find 19 patient clusters and trajectory analysis to outline disease evolution.
- * Findings included a 5-year survival rate across clusters ranging from 20% to 100%, with strong validation results from external and internal cohorts, confirming the reliability of the identified patient pathways.
Article Synopsis
- * A retrospective analysis was conducted on 811 patients from the DIAMOND study, which included a total of 1281 patients diagnosed in Italy between 2016-2021, focusing on characteristics leading to their diagnosis and calculating their respective scores.
- * Findings showed that only 1% of patients had early diagnoses, with significant differences in prognostic variable distribution based on diagnostic pathways, and both NAC and Columbia scores were linked to all-cause mortality.
Article Synopsis
- Transthyretin cardiac amyloidosis (ATTR-CA) primarily impacts older adults with various chronic health issues, leading to significant physical and emotional difficulties.
- New drugs show promise in early treatment stages, prompting a need for thorough assessments of patients' functional abilities and quality of life.
- Incorporating comprehensive geriatric assessment tools into standard care can help identify early signs of frailty and improve management strategies for older ATTR-CA patients.
Background: Evidence about early cardiac mechanics abnormalities in patients with mitochondrial diseases (MDs) before overt cardiomyopathy is limited.
Methods: In this prospective study, we performed a comparative analysis of conventional and speckle tracking echocardiographic parameters between patients with genetically identified MDs and no overt cardiomyopathy vs controls matched for age, sex and cardiovascular risk factors. The Newcastle mitochondrial disease adult scale (NMDAS) was calculated, using a threshold of > 21 as indicator of high disease severity.
Article Synopsis
- A Loeys-Dietz syndrome patient underwent mitral valve repair and replacement of the aortic root and valve, revealing a previously misdiagnosed Morgagni hernia during a preoperative CT scan.
- The Morgagni hernia was found to contain omentum and was compressing the right ventricle, complicating the patient’s condition.
- Intraoperative observations revealed abnormal blood flow back into the left ventricle, later attributed to major aorto-pulmonary collateral arteries, highlighting the need to consider these congenital features in diagnosis and surgical treatment.
Background: A sex-based evaluation of prognosis in heart failure (HF) is lacking.
Methods And Results: We analyzed the Metabolic Exercise test data combined with Cardiac and Kidney Indexes (MECKI) score registry, which includes HF with reduced ejection fraction (HFrEF) patients. A cross-validation procedure was performed to estimate weights separately for men and women of all MECKI score parameters: left ventricular ejection fraction (LVEF), hemoglobin, kidney function assessed by Modification of Diet in Renal Disease, blood sodium level, ventilation vs.
Article Synopsis
- * Out of 53 patients, 32 (60%) exhibited some form of LV remodeling, with varying patterns: 6% showed thinning, 30% thickening, and 24% progressed to a severe end-stage condition, while 40% had no remodeling.
- * The findings indicate that understanding LV remodeling patterns in children with HCM, especially during different developmental stages, could be crucial for the timing and effectiveness of future targeted therapies.